ABSTRACT FINAL ID cv TITLE Portal Vein Thrombosis Associated by mikesanye


									ABSTRACT FINAL ID: cv 35;
TITLE: Portal Vein Thrombosis Associated with Primary Cytomegalovirus Infection in an Immunocompetent Child
AUTHORS/INSTITUTIONS: V. Okwu, N. Alkhouri, R. Alkhouri, B. Rouphail, M. Elias, C. Carter-Kent, , Cleveland
Clinic, Cleveland, OH;
Abstract Body: Cytomegalovirus (CMV) infection may occur in immunocompetent children and adolescents and often
follows an asymptomatic course. Portal vein thrombosis in association with acute CMV infection is a very rare
condition in an immunocompetent host. An 18-year-old female with no significant medical history presented with a
one-week history of right upper quadrant pain and low grade fever. On examination, the upper part of the abdomen
was tender and the spleen was palpable at 4 cm below the costal margin. Initial laboratory testing showed WBC of
10.1 k/uL (lymphocytes 71%), platelet count of 156 k/uL, ALT 193 U/L, AST 134 U/L, LDH 360 U/ml with normal
prothrombin time, alkaline phosphatase and bilirubin. An abdominal ultrasound showed a thrombus in the portal vein
trunk and splenomegaly of 19.5 cm. Serologic tests were negative for hepatitis A, hepatitis B, hepatitis C, Epstein-
Barr virus, HIV infection and antibodies to toxoplasmosis. Antibodies were detected against CMV with both positive
IgG and IgM; CMV DNA was detected by PCR. Screening for thrombophilia revealed normal levels of protein C,
protein S, antithrombin III and homocysteine with no prothrombin or factor V Leiden mutations and no antiphospholipid
antibodies. A diagnosis of portal vein thrombosis secondary to acute CMV infection was made. The patients was
started on heparin and transitioned to oral anticoagulant therapy. Repeated ultrasound in 3 months showed
recanalization of the portal vein and improved splenomegaly.
This case illustrates that in the presence of acute CMV infection with abdominal pain, the possibility of abdominal
venous thrombosis should be always entertained in order to start anticoagulation as soon as possible. Acute CMV
hepatitis should be added to the list of risk factors of acute portal vein thrombosis.
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TITLE: Chronic Hepatitis B in Chinese Children: what are we waiting for?
AUTHORS/INSTITUTIONS: S. Narwal, A. Felix, O. Yugay, , Maimonides Medical Center, Brooklyn, NY;
Abstract Body: Background: Chronic Hepatitis B (CHB) is common in Chinese children. Most of these children get
CHB via vertical transmission (VT). Treatment with Interferon and Lamuvidine has not been very successful in these
patients. Entecavir and Tenofovir have been used only in adults with CHB with some success.
Aim: To evaluate the effectiveness and the side effects of Entecavir and Tenofovir in Asian children with CHB.
Methods:34 Chinese children with CHB were treated with Entecavir aged between 1-17 years. 18 patients were born
in China and acquired CHB via VT. All of the patients were positive for HBsAg, HBeAg and had high HBV loads for
more than 6 months. 29 % of the patients had elevated liver function tests (LFTs). 3 patients underwent liver biopsy
showing fibrosis with CHB activity. All patients were monitored at 3 month intervals with blood tests for Electrolytes,
CBC, LFTs, Hepatitis B profile and viral load. Tenofovir was added to Entecavir therapy in 7 patients after 1 year of
treatment and 5 were started on both as the initial treatment. 7 patients failed to follow up after 3 months.
Results: 27 of the initial 34 patients completed therapy with either Entecavir alone or in combination with
Tenofovir.100% of the treated patients experienced a significant decrease in the viral load and normalization of LFTs.
HBsAg and HBeAg became negative in 4 patients, HBeAb became positive in 9 patients and HBcAb became
nonreactive in all the patients between 3-12 months of therapy. Only 2 patients from this positive response group were
on combination therapy and within 3 months of treatment they showed significant viral load decrease and converted to
HBeAb. No side effects were noted in any of the patients.
Conclusion: Significant viral load reduction, normalization of LFTs and conversion of HBsAg, HBeAg and HBcAb were
noted in children treated with Entecavir alone, or in combination with Tenofovir. We suggest that these two drugs can
be safely used in children with CHB, but careful monitoring is needed. Further studies with larger number of patients
should be done to determine the guidelines to treat pediatric patients with CHB.
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TITLE: A nine month-old with acute liver failure: the approach to diagnosis of a rare but treatable condition
AUTHORS/INSTITUTIONS: J. Kaplan, E.J. Israel, Pediatrics, Massachusetts General Hospital, Boston, MA;
Abstract Body: Acute liver failure is a rare but serious cause of morbidity and mortality in children and its etiology is
not found in up to 50% of pediatric cases. A recent evaluation of the PALF database showed that children with acute
liver failure deemed indeterminate had a less than complete evaluation for metabolic and autoimmune causes. Here
we present a case of liver failure in a young child. A thorough and expedited multidisciplinary evaluation led to a rare
but treatable diagnosis.
A 9 month-old previously healthy boy presented to the emergency room with two days of intermittent fever, lethargy,
rhinorrhea, vomiting and non-bloody diarrhea. Evaluation showed a significant elevation of his transaminases and
hepatomegaly. Over the next 24 hours, acute liver failure ensued with coagulopathy and encephalopathy. The
patient required mechanical ventilation and multiple pressor medications. Initial evaluation for infectious, autoimmune,
toxic and ischemic causes was negative. Biopsy of the liver within 48 hours of admission revealed steatosis with a
microvesicular pattern in the centrilobular regions and a macrovesicular pattern in periportal regions. Out of concern
for persistent lethargy, brain magnetic resonance imaging with spectroscopy was performed, revealing normal brain
structure and parenchyma but two very abnormal lipid peaks, suggesting a metabolic condition. Plasma acylcarnitine
and urine organic acid profiles were suspicious for a fatty acid oxidation defect. The diagnosis of carnitine-
acylcarnitine translocase (CACT) deficiency was entertained. A low-fat diet and carnitine replacement resulted in a
rapid improvement in liver function and overall clinical status. Molecular genetic testing revealed three mutations in
the CACT gene confirming the diagnosis. The patient made a full recovery and has normal liver function 15 months
later. This patient’s story supports the notion that with decreasing age, metabolic disorders are more likely to be found
as a cause of acute liver failure. An aggressive approach to searching for that cause may very well be life-saving.
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TITLE: Ruptured hepatic adenoma in an adolescent male
AUTHORS/INSTITUTIONS: K. Romeo, M. Greifer, L. Moy, J. Levine, Pediatric Gastroenterology, Cohen Children's
Medical Center of New York, New Hyde Park, NY;
Abstract Body: Introduction: Hepatic adenomas are benign liver lesions most commonly found in females with long
term use of oral contraceptives. We describe an unusual presentation of hepatic adenoma found in a 16 year old
male with no risk factors.
Case: A 16 year old obese male was referred for elevated liver enzymes. History was notable for 10 days of high
fevers, decreased appetite and 15 lb weight loss. Blood tests revealed ALT 566 and AST 82 (IU/L). He had a
normocytic anemia with platelets 399 thous/mcL and albumin 4.2 g/dL, total bilirubin 1.6 mg/dL, and alkaline
phosphatase 188 IU/L. Physical exam was notable for an obese male with mild pallor, anicteric sclera and no
hepatosplenomegaly. Stool was guaiac negative. Sonogram revealed an enlarged liver and a large heterogeneous
solid mass measuring 18.6x13.4x17.7 cm with a hypoechoic component. An MRI showed a large mass with fluid and
hemorrhagic components and irregular enhancing margins. On admission, ALT was 31 and AST 21 (IU/L). On night
of admission, he developed hypotension and an acute drop in his hemoglobin from 9 to 7.9 (g/dL). An angiogram
revealed a right hepatic artery adjacent to a large hypovascular area consistent with the known area of the
hemorrhage. No AV malformation or tumor vascularity was identified and the right hepatic artery was embolized. The
patient underwent a right liver lobectomy and cholecystectomy. On pathology, a hepatic adenoma measured 20 cm in
diameter with diffuse infarction and intralesional hemorrhage. Post-operative course was unremarkable.
Discussion: While hepatic adenomas are most commonly found in young women using oral estrogens, they are
unusual in a teenage male. There is a higher incidence in patients with glycogen storage disease, diabetes mellitus,
hemochromatosis, and anabolic steroid use. Our patient had no known risk factors. The greatest risks of hepatic
adenoma are hemorrhage and malignant transformation. Treatment is surgical. Hepatic adenoma, while rare, should
be considered in the differential diagnosis of a liver mass in an adolescent male.
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TITLE: A Rare Form of Histiocytosis Causing Cholestasis
AUTHORS/INSTITUTIONS: P. Minar, K. Jensen, V. Goh, V. Biank, Pediatric Gastroenterology and Nutrition, Medical
College of Wisconsin, Milwaukee, WI;
Abstract Body: A 27 day term, female was transferred for evaluation of tachypnea, pallor and massive
Exam:tachycardic, tachypnic, hypoxic requiring 1/2 L of oxygen; pallor; no jaundice, petechiae or bruising. Liver span
was 9 cm with splenomegaly.

Labs: WBC 75.7 K/uL; Hgb of 5.9 g/dL; platelets of 7 K/uL. Bone marrow excluded malignancy. Infectious, metabolic
and immune workup was negative.

Ultrasound showed hepatomegaly with normal flow, a gallbladder with sludge and wall thickening, no ductal dilatation

Direct bilirubin increased from 0 to 9.5mg/dL over 24 hours and peaked at 28.7 mg/dL. U/S showed no obstruction.

Liver biopsy showed mononuclear and polymorphonuclear infiltrate without fibrosis or bile plugs. Central veins and
sinusoids contained cell aggregates with pale gray eosinophilic cytoplasm and abnormal nuclei. Clusters of
degenerated hepatocytes were accompanied by neutrophils. Immunohistochemistry staining was positive for CD68,
S100, CD163, Factor XIIIa and negative for CD1a.

Histiocytes on liver biopsy were immunoreactive to Anaplastic Lymphoma Kinase (ALK) diagnosing ALK + Non-
langerhans cell histocytosis (NLCH).

Initially, she required oxygen, daily platelet and twice weekly PRBC transfusions. Treatment with prednisolone
(40mg/m2) for 8 weeks and vinblastine for 6 weeks resolved the oxygen need, cholestasis, anemia and

NLCH describes a rare group of disorders defined by accumulation of histiocytes that do not meet phenotypic criteria
for diagnosis of langerhan’s cell histiocytosis and are differentiated based on their clinical presentation and
immunohistochemistry. This is the 4th documented case of ALK+ NLCH. ALK is an insulin receptor family of cell
membrane spanning receptors that display intrinsic tyrosine kinase activity. Aberrant expression and/or activation of
ALK results in a spectrum of malignancies: ALK+ large B cell lymphomas, inflammatory myofibroblastic tumors and
non-small cell lung cancer.

This case emphasizes the role of immunohistochemistry staining when confronted with abnormal liver specimens.
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TITLE: Recessive TWINKLE mutation presenting as acute liver failure
AUTHORS/INSTITUTIONS: V. Goh, K. Jensen, K. El-Chammas, G. Telega, V. Biank, Pediatric Gastroenterology and
Nutrition, Medical College of Wisconsin, Milwaukee, WI;
Abstract Body: 10 wk-old presented with feeding intolerance, jaundice, and respiratory distress. She was born term
without complications but hospitalized at 1wk of age for lethargy. Metabolic work up was normal and symptoms were
attributed to transient hyperammonemia of the newborn. At 2 month visit, was documented as thriving without
concerns. Family history: unremarkable with 5 healthy siblings. Parents not consanguineous.
Exam:Weight and length at 1%. She had scleral icterus without dysmorphic features and was in respiratory distress.
Her abdomen was distended with liver palpated 5cm below costal margin; no splenomegaly.
Labs:Hgb 7.8g/dL, platelet 527K/µL, total & direct bilirubin 10.9/7.6mg/dL, AST 1033 IU/L, ALT 634 IU/L, GGT 77 IU/L,
albumin 2.5g/dL, LDH 2633 IU/L, Alkaline phosphatase 1084 IU/L, ammonia 29µM/L, INR 15.22, PTT 60sec,
fibrinogen <60mg/dL, D-dimer 10.12µg/dL, ferritin 973ng/mL, alpha fetoprotein 84800ng/mL.
Hospital Course:CD was diagnosed of acute liver failure. Infectious, toxicology and metabolic workup including
hemachromatosis and hemophagocytic lymphohistiocytosis was negative. She was later noted to have dysconjugate
gaze. Brain MRI was normal but she failed visual and auditory evoked potential testing. At 4 months old, she
developed Fanconi syndrome. Liver biopsy showed active cirrhosis with bile ductular proliferation, cholestasis, diffuse
hemosiderosis and scattered macrovesicular steatosis. Mitochondrial content in the liver was 17% of mean value.
Genetic workup revealed mitochondrial DNA depletion with two deleterious mutations in the TWINKLE gene c.85C>T
(p.R29X) and c.1523A>G (p.Y508C). She passed away at 6 months from sepsis and multiorgan failure. Autopsy
revealed no histo-pathological changes in the brain, spinal cord, skeletal muscle, peripheral nerves or heart

Few cases of recessive TWINKLE mutations with infantile onset spinocerebellar ataxia (IOSCA) have been reported.
Our case is significant as this is the first report of IOSCA associated with a recessive TWINKLE mutation presenting
with marked biliary cirrhosis and Fanconi syndrome.
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TITLE: Autoimmune cholangitis in a 3 year old patient
AUTHORS/INSTITUTIONS: S.H. Ibrahim, D.K. Freese, Pediatric Gastroenterology and Hepatology, Mayo Clinic,
Rochester, MN; L. Zhang, Anatomic Pathology, Mayo Clinic, Rochester, MN;
Abstract Body: Immunoglobulin G4 (IgG4)-associated cholangitis (IAC) is a steroid responsive biliary disease, often
associated with autoimmune pancreatitis. It is characterized by elevation of serum IgG4 and infiltration of IgG4
positive plasma cells in bile ducts. This condition is well-recognized in adults, but has not been previously described
in pediatric patients. We report a 3- year-old female patient with IAC. The patient presented with hepatomegaly,
jaundice, and abdominal distention. There was no evidence of IBD. Laboratory studies revealed markedly elevated
ALT, alkaline phosphatase, and mildly increased bilirubin. ANA, SMA and IgG4 levels were increased. Liver biopsy
revealed mild focal interface activity, focal mild lymphocytic cholangitis, and positive IgG4 immunostaining. GGT and
alkaline phosphatase were increased out of proportion to ALT and AST. MRCP showed diffuse thickening of
intrahepatic ducts, but did not have features characteristic of PSC. She had intermittent elevation of amylase and
lipase, but pancreas appeared normal on MRCP. The patient responded initially to prednisone and azathioprine, but
relapsed upon tapering of prednisone. Addition of vancomycin to her regimen resulted in improvement of her liver
enzymes. Follow up MRCP was normal and repeat liver biopsy showed resolution of inflammation, absent IgG4
staining and no progression of fibrosis. We speculate that the incidence of IgG4 associated cholangitis in the pediatric
population might be higher than previously recognized. Screening for this condition in children with suspected overlap
syndrome may be indicated, especially for patients with pancreatic involvement and/or no evidence of IBD, and may
identify a subset of patients more responsive to immunosuppression. The course and prognosis of IAC in the
pediatric population needs to be clarified in the future.
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TITLE: ARC syndrome, another cause of low-GGT cholestasis
AUTHORS/INSTITUTIONS: M.K. Jensen, V. Goh, G. Telega, V. Biank, Pediatric Gastroenterology, Medical College of
Wisconsin, Milwaukee, WI;
Abstract Body: History: EG is a 43 day-old Hispanic female with jaundice & failure to thrive since 2 weeks-old. Mom
denied acholic stools, dark urine, fever, bleeding or bruising. EG was born at 38 weeks via repeat c-section. She failed
her hearing screen, but has been well without hospitalizations or surgeries. She lives with parents and healthy 4-year-
old sister. Family history identified a previous sister who died at 7 months of age from Arthrogryposis, Renal
dysfunction and Cholestasis (ARC) syndrome. Parents are not consanguineous.

Exam: EG weighed 3.85kg(10%) with length 51.7cm(3%). She had scleral icterus, low set ears, but was not
dysmorphic. Cardiopulmonary exam was normal. Her liver edge was palpable 3cm below right costal margin, without
splenomegaly. Stools were acholic.

Labs: Hemoglobin 8.5, INR-1.0, Protein 5mg/dL, albumin 3mg/dL, Total & conjugated bilirubin 8.9 & 7.4mg/dL,
alkaline phosphatase 1,329IU/L, Free T4-normal with elevated TSH. GGT 24. UA-positive glucose, protein & bilirubin.
Immune workup demonstrated elevated B-cells . Urine bile acids were elevated.

Ultrasound showed normal gallbladder and bile duct. Scintigraphy demonstrated uptake but no excretion.

Genetic testing confirmed a homozygous nonsense mutation (c.1498G→T; p.Glu500x) in exon 20 of the VPS33B gene
consistent with ARC syndrome.

Disease progression: She was frequently admitted for fever without source and passed away at 9months from
respiratory failure complicated by worsening renal and hepatic function with intermittent bleeding from
thrombocytopenia. Contractures never developed.

ARC syndrome: An autosomal recessive condition causing low GGT cholestasis with renal dysfunction. Arthrogryposis
is less frequently documented. Other common findings include: sensorineural deafness, elevated TSH with normal T4
and an increased susceptibility to infections. Patients have increased bleeding risk with >50% developing significant
bleeding. Patients are developmentally delayed, have failure to thrive and average life expectancy of 7months. Death
is frequently due to respiratory illnesses and/or sepsis.
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TITLE: Liver failure from copper overload in a 6 year old
AUTHORS/INSTITUTIONS: M.G. Bartlett, Pediatric Gastroenterology, University of Minnesota, Minneapolis, MN;
Abstract Body: A six year old boy with autism presented with gradual onset of fatigue. The family had previously
sought treatment for his autism from numerous caregivers including a chiropracter who provided him with dietary
supplements thought to improve his communication skills. After multiple visits to primary care providers he was
admitted to the hospital with hepatosplenomegaly, elevated transaminases, and anemia. At the time of presentation
his ALT was 214, AST 707, GGT 353, total bilirubin 1.1 mg/dl, and hemoglobin 8.7 mg/dl. Further evaluation found
positive ANA and positive F-Actin Antibody IgG test. He also had borderline low Ceruloplasmin (24 ug/dl). A 24 hour
urine copper test was elevated (218 mcg/dl)and increased significantly after penicillamine challenge test (1480
mcg/dl). Liver biopsy demonstrated pericellular fibrosis and cirrhosis and special orcein staining showed abundant
copper. A dry copper weight of 1430 mg/gram (normal 10-25) was considered diagnostic of Wilson's Disease. He was
started on trientene and zinc. Within one week of admission he developed liver failure with INR rising to 6 and total
bilirubin elevated to 46.3 mg/dl. He was listed status 1A for liver transplant and received a deceased-donor split liver
on day 3. Since he has 4 siblings, genetic testing was done with complete sequencing analysis of the coding region
for the ATP7B gene. No known mutations for Wilson's Disease were found. One single amino acid substitution was
found which may represent a previously unknown mutation, although it occurs in a region of the gene that does not
code for a known functional domain. Review of his dietary history, which included 3 separate supplements all mixed
with chocolate milk,show his approximate daily copper intake to be 3-4 mg, tenfold the recommended daily allowance.
This case may be classic Wilson's Disease with an undetected mutation, a heterozygote for Wilson's with a newly
dicovered mutation, or copper toxicity in a child predisposed to injury from autoimmune hepatitis.
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TITLE: Glycogenic Hepatopathy: Hepatic Complication of Poorly Controlled Diabetis Mellitus
AUTHORS/INSTITUTIONS: V.V. Gopalareddy, M. Parker, R. Caicedo, J. Dranove, V. Pineiro, Pediatrics, Levine
Children's Hospital at Carolinas Medical Center, Charlotte, NC; W. Ahrens, Pathology, Carolinas Medical Center,
Charlotte, NC;
Abstract Body: A 12 year old boy presented with hepatomegaly of unknown duration. He had a past medical history
significant for poorly controlled Type 1 diabetes,diagnosed two years ago. He complained of upper abdominal fullness
and intermittent emesis for about 4 weeks. Examination revealed distended upper abdomen and a massive tender
Lab work revealed AST 849, ALT 568, alkaline phosphatase 404, total bilirubin 1.2, direct bilirubin 0.2, albumin 4,
GGTP 191. HbA1C level was elevated at 10.2%. Ultrasound abdomen performed revealed marked hepatomegaly,
mild splenomegaly with no focal lesions nor ascites. Hepatic arteries, portal venous wave forms were normal.
Liver biopsy showed abundant glycogenated hepatocytes with no significant inflammatory activity, necrosis nor
steatosis. Better glycemic control over the next 3-4 weeks lead to a marked decrease in hepatomegaly and
normalization of transaminases.

Discussion: Glycogenic Hepatopathy (GH) most often occurs in individuals with type 1 diabetis and poorly controlled
blood sugar. It is also known to occur following short term high-dose steroid therapy.GH results from excess
accummulation of glycogen in hepatocytes, occuring when marked or prolonged hyperglycemia is treated with insulin.
Glucose in the sinusoidal blood is rapidly taken upbyhepatocytes, followed by rapid conversion to glycogen, which is
then trapped within the liver. The most severe form of GH is Mauriac syndrome, consisting of growth retardation,
delayed puberty, hepatomegaly and cushingoid features. Key clinical features are hepatomegaly and mild to markedly
elevated transaminases, rarely ascites, which typically return to normal with adequate blood sugar control. Histologic
features include marked glycogen accumulation leading to pale, swollen hepatocytes, no or mild fatty
change/inflammation/spotty lobular necrosis and intact architecture with no significant fibrosis. The pathology is
distinct from steatohepatitis. GH is often under recognized by clinicians.
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TITLE: Chronic Malaria Mimicking Autoimmune Hepatitis
AUTHORS/INSTITUTIONS: V.V. Gopalareddy, A. Ahmed, R. Caicedo, J. Dranove, V. Pineiro, Pediatrics, Levine
Children's Hospital at Carolinas Medical center, Charlotte, NC; W.A. Ahrens, Pathology, Carolinas Medical Center,
Charlotte, NC; J. Menendez, Transplant Surgery, Carolinas Medical Center, Charlotte, NC;
Abstract Body: A 7-year old girl adopted from Liberia was referred for elevated liver enzymes. She had a firm spleen
measuring 5 cm and a mild hepatomegaly. Tests revealed AST of 226 IU/L, ALT of 126 IU/L, bilirubin of 0.8 mg/dl,
albumin of 3.5gm/dl. IgG level was 2.6gm/dl. Chronic hepatitis evaluation was otherwise negative. ANA was 1: 40
positive, SMA was 1: 64 positive, AMA was 1:55 positive. Abdominal ultrasound revealed a normal sized liver with an
enlarged spleen. Liver biopsy revealed chronic mild lobular and portal hepatitis with no significant fibrosis.

The patient was diagnosed with AIH-Type 1 and Prednisone 2mg/kg/day was initiated. Her AST and ALT normalized
within 3 weeks on prednisone therapy and autoantibody levels also improved. In the interim she developed daily
fevers with headache and was diagnosed with malaria. Repeat analysis of liver biopsy revealed the presence of
Hemazoin pigment, typically seen in malaria. Steroid therapy for autoimmune hepatitis was discontinued and malarial
treatment with quinine 10mg/kg/dose TID for 3 days and doxycycline 100mg BID for 7 days was completed. Serial
LFT monitoring over the subsequent 6 months has been normal off all immunosuppressive therapy.

Discussion: Autoimmunity can be seen in malaria and other infectious processes. It can present as chronic
hepatosplenomegaly, mimicking autoimmune hepatitis. This case study suggests that autoimmune hepatitis can be
misdiagnosed even when International Autoimmune Hepatitis Group (IAHG) score is used. Hypergammaglobulinemia,
autoantibodies and immune-mediated liver damage can be seen in cases of infectious etiologies including viruses,
leishmaniasis and malaria. This case study supports the need for histologic confirmation of diagnosis even in the
setting of high-score autoimmune hepatitis.

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TITLE: Left ventricular aneurysm in a pediatric liver transplant recipient following presumed cocaine ingestion.
AUTHORS/INSTITUTIONS: V.V. Gopalareddy, R. Caicedo, J. Dranove, W. Tsai, D. Bailey, V. Pineiro, Pediatrics,
Levine Children's Hospital at Carolinas Medical Center, Charlotte, NC; J. Menendez, L. Eskind, Transplant Surgery,
Carolinas Medical Center, Charlotte, NC; L. Watts, Cardiovascular Surgery, Levine Childrens Hospital at Carolinas
Medical Center, Charlotte, NC;
Abstract Body: A 23-month old African-American male, who underwent liver transplantation for biliary atresia,
presented 5 months after transplant with low grade fever, decreased level of activity and cough. The chest
examination was unremarkable, with the exception of fine crackles. Chest radiograph demonstrated an enlarged
cardiac silhouette compatible with cardiomegaly or pericardial effusion. An echocardiogram demonstrated a large
pericardial effusion with early diastolic collapse of the right ventricle and right atrium. The child was immediately
admitted to the pediatric intensive care unit where a pericardiocentesis was performed. After insertion of pericardial
drain, the patient developed ventricular dysrhythmias and hemodynamic instability requiring intravenous inotropic
support. A repeat echocardiogram revealed a left ventricular apical aneurysm. Review of the patient’s social history
revealed the child had been found carrying a bag of cocaine and had possible ingestion. Serial echocardiograms
demonstrated increasing size of the ventricular aneurysm. Due to risk of rupture and sudden death, the child
underwent surgical repair with temporary cardiopulmonary bypass. Recovery was uneventful with stable liver functions
throughout hospitalization. The patient was discharged to the maternal grandmother with normal cardiac and hepatic
function 9 days after his surgery.

Discussion: Ventricular aneurysm in a pediatric liver transplant patient is extremely rare. We found no other reports in
the literature with this association. Ventricular aneurysm due to coronary spasm and infarction with cocaine exposure
is well recognized. Prompt recognition and surgical intervention in the pediatric liver transplant population can lead to
uneventful cardiac recovery and stable liver function.

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TITLE: Unique cause of chronic abdominal pain
AUTHORS/INSTITUTIONS: T.L. Sutton, , Walter Reed Army Medical Center, Washington, DC;
Abstract Body: AD is a 13 year old white female with a long history of chronic abdominal pain. The dull, but intense,
pain involves her entire abdomen and is triggered by eating. Occurring in discrete episodes, it typically lasts 2-3 days.
She is completely well between episodes. Her physical exam is unremarkable. Two extensive workups revealed
normal laboratory, endoscopic, and histologic findings. Abdominal radiography showed fecal retention. She
experienced transient improvements with various treatments for functional abdominal pain and constipation. Due to a
change in the quality of her pain, a repeat examination was performed. Abdominal ultrasound identified a cystic mass
near the gallbladder neck. MRCP confirmed a Type II choledochal cyst. She underwent a laparascopic cyst excision,
cholecystectomy with biliary reanastamosis. She experienced complete resolution of her symptoms.
Choledochal cysts are rare cystic dilations along the biliary tree. The current classification scheme divides them into 5
subtypes. Type II, characterized by discrete diverticula along the extrahepatic biliary ducts, account for only 2% of
choledochal cysts. These cysts are unique from other choledochal cysts in their pathogenesis and outcome. Though
the exact pathogenesis is unknown, they are thought to arise from true diverticula of the common bile duct or
duplication cysts. Clinically, most children and adults are asymptomatic or present with only one symptom, chronic or
intermittent abdominal pain being the most common. Abdominal ultrasound is very sensitive in indentifying
choledochal cysts. MRCP is now considered the gold standard for confirming diagnosis and delineating the biliary
anatomy prior to surgery. For Type II cysts, complete cyst excision with or without cholecystecomy is recommended.
In contrast to the other types of choledochal cysts, there is minimal increased risk of subsequent cancer.
This case highlights a unique cause of chronic abdominal pain and underscores the importance of maintaining a high
index of suspicion in these patients. An abdominal ultrasound is safe and has a high sensitivity in identifying
choledochal cysts and should be considered in this population.
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TITLE: A rare case of juvenile polyposis syndrome
AUTHORS/INSTITUTIONS: T.L. Sutton, P.L. Rogers, , Walter Reed Army Medical Center, Washington, DC;
Abstract Body: Juvenile polyposis syndrome (JPS) is a rare disorder defined as the presence of more than 5 juvenile
polyps in the colon or multiple juvenile polyps throughout the gastrointestinal tract. Further, it is associated with an
increased risk of cancer. These hamartomatous polyps have a characteristic appearance and histology. We report on
a patient with JPS who presented at 8-months-of-age (mo) with severe hypoproteinemia and anemia. By maternal
report, he began experiencing hematochezia at 2 mo. Subsequently, he passed a polyp at 6 and 7 mo. EGD and
colonoscopy revealed a few duodenal polyps but numerous distal ileal and colonic polyps; appearance and histology
were consistent with juvenile polyposis. Despite regular endoscopic sessions, he continued to manifest severe protein
losing enteropathy, hypogammaglobulinemia associated with numerous respiratory infections, hyponatremia,
hyperaldosteronism, hypertension, anemia, and malnutrition, attributable to his polyp burden. Treatments included
regular IVIG and albumin infusions. At 14 mo, a total colectomy was performed after he presented with an
incarcerated inguinal hernia due to an entrapped polyp. Postoperatively, his polyp growth slowed for 4-6 month with
subsequent rapid development of new polyps throughout the remaining bowel and stomach. Of particular note, he
developed 2 perianal juvenile polyps. In contrast to the clinical progression of his disease over the years, his albumin
and immunoglobulin levels have stabilized and he no longer requires intervention. Developmentally, the patient has
significant delays and has been diagnosed with autism. This case is unique for many reasons. First, our now 7-year-
old patient is the longest surviving patient presenting with infantile juvenile polyposis. Second, he has no family history
of polyps and has tested negative for PTEN, SMAD4, and BMPR1A mutations, which are associated with severe
hamartomatous polyposis disorders. Third, this case provides information on the natural history of an often fatal
condition and may offer insight on the medical management of juvenile polyposis syndrome.
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TITLE: Colon Cancer in a 10-year-Old Girl: A Rare Suspect
AUTHORS/INSTITUTIONS: V.V. Gopalareddy, C. Jacobson, R. Caicedo, J. Dranove, V. Pineiro, Pediatrics, Levine
Children's Hospital at Carolinas Medical Center, Charlotte, NC; W. Ahrens, Pathology, Carolinas Medical Center,
Charlotte, NC;
Abstract Body: A 10 year old Caucasian girl presented with a 3 week history of intermittent non bilious vomiting and
periumbilical crampy abdominal pain. There was no history of constipation or bloody diarrhea. She also reported
fatigue and six pound weight loss. She denied fever, rash or swellings. The physical exam was unremarkable.
Complete blood count, metabolic panel and sedimentation rate were all normal. Fecal occult blood testing was
negative. Computed tomography of the abdomen revealed fluid filled loops of distal small intestine, with dilation of
right hemicolon, with a focal segment of thickened bowel at the transition point near the hepatic flexure.Colonoscopy
revealed a non-bleeding, firm, 3cm long sessile mass, completely obstructing the lumen at the level of hepatic flexure.
Biopsy confirmed a signet-ring cell adenocarcinoma of the colon. Wild-type KRAS mutation and elevated carcino
embryonic antigen (CEA) of 25.5ng/ml were noted. Genetic studies for hereditary nonpolyposis colon cancer
(HNPCC) and Li-Fraumeni syndrome mutations were negative.
She underwent a laparoscopic- assisted right hemicolectomy for Stage IV colon cancer. Chemotherapy regimen with
avastin, oxaliplastin, 5-flurouracil and leucovorin was started. Unfortunately at the end of 12 cycles of chemotherapy,
she developed local recurrence with diffuse peritoneal seeding

Discussion: Colorectal cancer is rare in children and only a few cases have been described. Most cases present in
2nd decade. Only 12%-20% of these cases occur in children 10yrs of age and under. Inflammatory bowel disease and
hereditary disorders are known to predispose individuals to colorectal cancers.The most common site of primary
colorectal tumors in children is the transverse colon. The majority of colorectal cancers are adenocarcinomas. Primary
signet-ring cell carcinoma, a rare subtype of mucinous adenocarcinoma, is characterized an abundance of intracellular
mucin, giving the cells a ‘signet ring’ appearance. It has a poor prognosis in children with few 5-year survivors.

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TITLE: Hemophagocytic lymphohistiocytosis in a patient with Crohn's disease and a subtheraputic 6-mercaptopurine
AUTHORS/INSTITUTIONS: E. Kutsch, S. Khan, Gastroenterology , AI duPont Hosp, Wilmington, DE; C. Frantz,
Hematology, Al duPont Hosp, Wilmington, DE;
Abstract Body: A 14 yo girl with Crohn’s disease, on 6-mercaptopurine (6-MP), admitted with fever and fatigue for 3
wk, and positive monospot. Exam notable for fever 38.9C, hypotension, abdominal distention and palpable spleen.
Lab work showed WBC 1.1, ANC 500, Hgb 7.1, plt 37, normal peripheral smear, EBV PCR 833. Compliance with 6MP
was previously questioned. Her 6-TGN level was 77, 6-MMPN level undetectable. On admission, 6-MP was held due
to possibility of myelosupression. Other abnormal labs noted: albumin 2.3, fibrinogen 97, ferritin 468, TG 138,
coagulopathy and persistent cytopenias. She was negative for CMV and other viral hepatitides. Abdominal CT
revealed bilateral pleural effusions, splenomegly with focal infarction, gallbladder edema, moderate ascites. Bone
marrow (BM) biopsy showed 1+ hemophagocytosis with significant excess of macrophages. She had low NK cell
function. She was diagnosed with acquired hemophagocytic lymphohistiocytosis (HLH). Genetic testing (MUNC13-4,
STX11 and PRF1) was negative. She completed 8 wks of dexamethasone and etoposide, with HLH resolution. Six
months later, EBV PCR level was 1. She is in clinical remission of Crohn’s disease on maintenance 5-ASA therapy.
HLH is a rare, life-threatening, but potentially reversible disease in which the immune system is inappropriately
stimulated rendering it highly ineffective and overwhelming. Her clinical features, labs, and BM results are consistent
with HLH. The presence of EBV and negative HLH genetics support the diagnosis of acquired HLH. Conceivably, she
is at risk due to underlying Crohn’s disease and its alterations of the immune system, but it is unclear as to what role
6MP may have played as her metabolites were undetectable. To our knowledge, previously reported cases of HLH in
IBD were all associated with immunosuppressive therapy. This case raises concerns about the risk for a serious
immunologic complication in IBD children who are not on immunomodulators. Our patient was successfully treated
with chemotherapy and did not require antiviral therapy.

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TITLE: New Onset Pseudotumor Cerebri in a Child Treated with Adalimumab for Crohn's Disease.
AUTHORS/INSTITUTIONS: P.D. Wali, H. John-Kelly, Pediatric Gastroenterology, A. I. duPont Hospital for Children,
Wilmington, DE;
Abstract Body: Adalimumab is a recombinant, fully humanized immunoglobulin-1 monoclonal antibody which has been
shown to be efficacious in pediatric Crohn’s disease.We present the first known case of pseudotumor cerebri in a child
with Crohn’s disease started on adalimumab. A 7-year-old female presented with a 4 month history of abdominal pain,
chronic diarrhea and heme-occult positive stool. An upper and lower endoscopy was performed showing pancolitis
with an ulcerated terminal ileum. She was started on oral prednisone and mesalamine. After 1 month she was weaned
off steroids and started on 6-MP. Six months later she again had abdominal pain and bloody diarrhea. She was
started on infliximab but developed abdominal pain, nausea and vomiting during an infusion. Methotrexate therapy
also failed. She was then started on adalimumab induction, and progressed to maintenance therapy. She had
resolution of her symptoms and normal inflammatory markers. After the fifth injection, she had a localized skin
reaction which resolved spontaneously. After the seventh dose she started to complain of headaches, intermittent
blurry and double vision. She was evaluated by a pediatric ophthalmologist and was found to have papilledema and
sixth nerve palsy. MRI of her brain was normal. Spinal tap showed an elevated opening pressure of 29 cm of H2O,
CSF studies were all negative. She was started on acetazolamide and had improvement of symptoms within 24 hours.
Adalimumab was discontinued. Pseudotumor cerebri is defined as elevated CSF pressure above 20 cm of H2O, with
normal CSF studies, normal sized ventricles and exclusion of other underlying abnormalities. Clinical features include
headache, visual disturbances and papilledema. The goals of therapy are relief of symptoms and preservation of
visual function. The most effective first line therapy is acetazolamide. Permanent optic atrophy is a severe
complication when patients do not respond to medical therapy. Clinicians must be aware of possible neurologic
complications of anti-TNF therapy, including development of pseudotumor cerebri.
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TITLE: Autologous Hematopoietic Stem Cell Transplantation (HSCT)in a Child with Refractory Crohn’s Disease (CD).
AUTHORS/INSTITUTIONS: C.S. Huang, G. Tenjarla, A. Lobdell, R. Scherr, B. Schoen, C. Sauer, K. Chiang, S.
Kugathasan, Pediatric Gastroenterology, Hepatology and Nutrition, Emory University, Atlanta, GA;
Abstract Body: Many advances have been achieved in the treatment of CD during the past decade. Biologics
including tumor necrosis factor antagonist and anti-adhesion molecules have greatly improved our treatment options
in CD. However, a subset of patients with CD will fail to respond to any available medical therapy. Surgical therapy
may not be an option in those when the disease is diffuse throughout the GI tract with multi-system involvement.
Autologous HSCT represents a new hope as rescue treatment for patients with refractory CD. A 15 year old female
diagnosed with CD involving her entire GI tract (esophagus, stomach, small and large bowel and perianal disease).
She also had pulmonary disease with altered pulmonary function and bronchoscopy with tracheal ulcerations and
granulomas. She also developed Pyoderma Grangrenosum involving both legs. She was admitted 10 times within 18
months due to CD exacerbations & complications of her disease. She failed 5-ASA, steroids, immunomodulators (6-
MP and Methotrexate), anti–TNF(Infliximab and Adalimumab) and anti-adhesion monoclonal antibody therapy
(Natalizumab). She became TPN dependent secondary to intestinal failure. She had a colonic perforation during
colonoscopy that left her with a colostomy. She underwent an elective autologous HSCT for refractory CD. Peripheral
blood stem cells were mobilized with GCSF. Conditioning was achieved by Cyclophosphamide. Only toxicity observed
immediate post-transplant was a culture negative fever. Her recovery was complete and was assessed by several
parameters including repeat colonoscopy which showed endoscopic remission. The colostomy was closed after 3
months post-transplant. She was able to resume her normal life style after 2 years including her schooling.
Conclusions: Autologous HSCT should be considered as a reasonable option for children with refractory Crohn’s
disease as it resets the immune system. Long-term follow up will be necessary to confirm the duration of the induced
clinical remission.
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TITLE: Nasal Septal Perforation: Unusual Manifestation Of Ulcerative Colitis
AUTHORS/INSTITUTIONS: P. Mohanty, M. Beg, , SUNY Upstate Medical University, Syracuse, NY;
Abstract Body: Introduction:
Ulcerative Colitis (UC) involves the rectum and colon with upper gastrointestinal involvement in 15- 69% of cases.
Ear-nose-throat (ENT) manifestations are seen in inflammatory bowel disease (IBD), mainly Crohn’s disease. We
report a case of nasal septal perforation in a patient with UC.

Case description:
A 10 year old Caucasian girl initially presented in 2003 with bloody diarrhea and weight loss. Physical examination
showed disabling erythema nodosum and asymptomatic nasal septal perforation. Endoscopic and histologic diagnosis
of UC was made. She remained refractory to standard medical therapy with prednisone, mesalamine, azathioprine
and tacrolimus. She underwent a staged colectomy with ileostomy followed by ileoanal anastomosis with subsequent
improvement of her gastrointestinal symptoms.
Nasal examination revealed a smooth nasal septal perforation approximately 10mm in diameter. There was no history
of previous trauma, nasal surgery, application of topical agents or environmental exposure to metals. Workup for
vasculitides, collagen vascular disorders and Wegener’s granulomatosis was negative. A five year follow up
examination showed a gradual decrease in the size of the septal perforation. We speculate that the nasal septal
perforation was an extra intestinal manifestation of her underlying severe UC.

 Nasal manifestations especially septal perforation in IBD is quite rare.
 Asymptomatic nasal perforation rarely requires any treatment.
 The uniqueness of this case is the association of nasal septal perforation in UC.
 Review of literature showed only two cases of nasal involvement in UC in adult patients; however none were reported
in the pediatric population.

This case has been reported to emphasize the importance of a careful physical examination of ear-nose-throat in IBD
patients, including those with Ulcerative Colitis.

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TITLE: Cap Polyposis in Pediatric Patients
AUTHORS/INSTITUTIONS: R.H. Alkhouri, S. Sendupta, S. Desai, D. Gelfond, A. Khan, H. Hashmi, R. Baker, S.
Baker, Digestive Disease and Nutrition Center, SUNY at Buffalo, Buffalo, NY;
Abstract Body: Introduction:
                                       Cap polyposis (CP) was first described in 1985 by Williams Bussey and Morson.
The pathogenesis of CP is not completely understood, and it has not been described in pediatric population as an
isolated finding. We describe two children/adolescents with CP.
 A 15 year old male presented with painless rectal bleed for one month. He had no evidence of helicobacter pylori
infection, or long standing constipation. At colonoscopy multiple polyps were found, one of which was removed. His
stool was positive for clostridium difficile and he was treated with metronidazole. Additional polyps were removed by a
repeat colonoscopy after which his symptoms resolved.
 A 9 year old female presented with painless rectal bleed for 2 weeks. She had no history of constipation, and there
was no evidence of H.pylori infection. She underwent a colonoscopy, one polyp was found in the rectum and
removed. Upon follow up a month later, her symptoms resolved.
CP, clearly differentiated from juvenile polyps, is an uncommon condition that has been described as an isolated
finding in adults, but not in pediatric population. These polyps are characterized by a distinct histopathological
appearance, which includes a mixed inflammatory cell infiltrate and fibrinopurulent exudates together forming a “cap”
over the body of the polyp. Most polyps are located in the recto-sigmoid area.
 The pathogenesis of CP is not understood, but it has been linked to constipation, rectal prolapse, and H.pylori
infection. Treatment of CP includes endoscopic removal, surgical excision, H.pylori eradication, and treatment with
metronidazole. Either the antibiotic or the anti-inflammatory properties of metronidazole could have been responsible
for its effectiveness. More recently, Infliximab has been effective in few cases. Polypectomy appears to have been
curative in our cases. No long term follow up seems to be necessary.
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TITLE: Neurological deterioration as the primary presentation of Crohn’s Disease
AUTHORS/INSTITUTIONS: E.J. Rothbaum Perito, M.B. Heyman, Division of Pediatric Gastroenterology, Hepatology,
and Nutrition, University of California-SF, San Francisco, CA; E.J. Rothbaum Perito, E. Zaid, K. Hoffman, E. Stumpf,
S. Wilson, M.B. Heyman, Department of Pediatrics, University of California-SF, San Francisco, CA;
Abstract Body: Introduction: Approximately one-fourth of children with inflammatory bowel disease (IBD) have extra-
intestinal manifestations (EIM). Lack of clear intestinal symptoms accompanying EIM may delay diagnosis.
Case Report: We report on a nine-year-old boy with two episodes of lower extremity weakness and pain, without joint
swelling, following self-limited diarrheal illnesses. Initial evaluation by a rheumatologist led to diagnosis of post-
infectious myositis. Seven months later a neurologist evaluated him for persistent symptoms and diagnosed proximal
weakness and peripheral neuropathy. Magnetic resonance imaging of his spine and legs, cerebrospinal fluid analysis,
and bone scan were normal. With the third episode, 11 months from initial symptom onset, the patient developed
unilateral ankle swelling, eye redness, and diffuse abdominal pain without diarrhea. He had persistent proximal
weakness, peripheral hyporeflexia, and diffuse leg pain. Laboratory tests revealed elevated erythrocyte sedimentation
rate, mild iron deficiency anemia, and hypoalbuminemia. These findings raised suspicion for IBD. Endoscopy with
biopsies revealed gastritis and severe colitis, consistent with Crohn’s disease. Electromyography and nerve
conduction velocities were normal. The patient’s symptoms—including the lower extremity pain and
weakness—resolved within three days after the initial induction dose of infliximab.
Discussion: While arthralgias and arthritis are common causes of extremity pain in children with Crohn’s disease,
presentation with primarily neuromuscular symptoms is rare and delayed diagnosis in this case. Previously reported
causes of neuromuscular symptoms without joint swelling in IBD include peripheral neuropathy, myositis, and
ankylosing spondylitis. Testing for these was negative in our patient. Awareness of cases in which EIM are severe but
intestinal symptoms are subtle or absent is essential to minimize diagnosis delays.
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TITLE: Case Report: Rectocele in the Pediatric age group
AUTHORS/INSTITUTIONS: M. Osman, Department of Pediatrics, Louisiana State University Health Sciences Center,
Shreveport, LA; M. Brown, Department of Surgery-Section of Pediatric Surgery, Louisiana State University Health
Sciences Center, Shreveport, LA; M. Osman, Department of Pediatric Surgery, Ain Shams University, Cairo, Cairo,
EGYPT; S. Hussain, Department of Pediatrics-Section of Pediatric Gastroenterology, Louisiana State University
Health Sciences Center, Shreveport, LA;
Abstract Body: Rectocele is protrusion of the anterior wall of the rectum. More common in females than male and
never been described in the literature in children younger than 18 years of age. We are presenting three pediatric
cases of Rectocele who presented by the complaint of constipation that was refractory to treatment. Diagnosis was
achieved by radiological studies including defecography and barium enema. Two of these cases were treated
surgically and one conservatively. Surgery completely cured the problem with uneventful Postoperative course.
Further multicenter studies with the aid of radiological evaluation should be considered on children with hard to treat
constipation to better describe that disorder in the pediatric age group.
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TITLE: 11 Year Old Child presenting with Crohn’s Disease and Auto-Immune Hemolytic Anemia
AUTHORS/INSTITUTIONS: G. Laroche, I. Hill, K. Buckley, Pediatrics, Wake Forest University Baptist Medical Center,
Winston-Salem, NC;
Abstract Body: Learning Objectives:
1. Increase attentiveness of Autoimmune Hemolytic Anemia associated with Crohn’s Disease.
2. The cause of Anemia can be multifactorial in patients with Inflammatory Bowel Disease.

Case Report:
An 11-year old previously healthy unimmunized Caucasian male presented to ED with 3 month history of abdominal
pain and diarrhea. Patient had been having fevers along with bloody stools. Pediatrician had been checking his Hgb
and noticed he was getting pale and had a significantly decreased Hgb. Because of concern that he was clinically
worsening he was referred to our hospital for further evaluation.

On Presentation: Patient is appeared pale dehydrated but alert and oriented, tachycardic, sunken eyes, conjunctival
pallor, with soft, tender, distended abdomen.
Significant Labs: Na: 127; K: 2.9; ESR: >119; CRP: 136.2; Protein 5.9; Albumin 1.8; WBC 14, 300; Hgb: 7.8; Hct:
22.5%; Granulocyte 4%; Band 50%; Lymphocytes 31%; Monocytes 12%; Retic 3.7%
As a type and screen was done our patient was found to be Coombs Positive with a Warm Autoantibody
Colonoscopy revealed pancolitis with thick, cobblestone appearance, ulcerations, and friability.

Autoimmune Hemolytic Anemia (AIHA) has been commonly reported as occurring along with Ulcerative Colitis. It has
been less commonly associated with Crohn’s Disease especially in pediatric patients. Our case report describes a
previously healthy unimmunized child presenting with fever, diarrhea, and anemia eventually diagnosed with Crohn’s
Disease and AIHA with a warm antibody. The pathophysiology of the association between AIHA and IBD is not yet
completely understood especially for Crohn’s Disease since its rare. Anemia in this child was multifactorial,
contributed by anemia of chronic disease with minor contribution from AIHA. Transfusion is indicated in symptomatic
patients. Treatment for both of these diseases is immunosuppression. Our patient was started on Prednisone,
Pentasa, and Azathioprine. Colectomy maybe necessary if patient becomes refractory to medications.
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TITLE: Severe vulvar lymphedema and perianal lesions related to Crohn’s disease
AUTHORS/INSTITUTIONS: C.A. Camacho, V. Velazquez, A. Mercado, Pediatrics, Hospital Episcopal San Lucas,
Ponce, PR;
Abstract Body: A previously healthy 12 year old girl admitted with a 2 month history of abdominal pain and bloody
stools for the last 3 days, denies anorexia, vomiting, fever, dysuria, cough, or rash. Patient was pale and wasted with
a heart rate, of 120 beats/min. Physical exam of genitalia showed edematous, ulcerated, excoriated vulvar area and
perianal wart like lesions skin tags and openlacerations. Hemoglobin of 7.9g/dl. Therapy was started with
metronidazole, methylprednisolone, mesalamine, and pantoprazole. Peribulbar biopsy showed granulomatous lesions.
Colonoscopy revealed mucosal inflammation from terminal ileus to proximal ascending colon; descending colon had
diffuse, edema, exudates, nodularity, pseudopolyps, stricture and ulceration. She persists with profuse rectal bleeding
during 4 days. Mesalamine dose was increased; and Cyclosporine and Cefotaxime were added to treatment.
Cyclosporine levels were achieved in 4 days of 8mg/kg/day dose. Her condition improved after 15 days of treatment,
and gained 12 pounds when she was discharge home. Vulvar lymphaedema due to metastatic vulvar Crohn's disease
is a rare complication of CD that normally responds well to metronidazole therapy. Cyclosporine and Tacrolimus are
alternative therapy in this condition. In this particular case, the patient received 13 days of Cyclosporine at a dose of
4mg/kg/day followed by 4 days at a dose of 8mg/kg/day to achieve levels at 200ng/ml and rectal bleeding remission.
There was clinical improvement of vulvar edema and perineal lesions. Further studies about cyclosporine as part of
the treatment in metastatic Crohn’s disease could open new doors for the future.
1.Odes S. Vardi J, Friger M, et al. Cost análysis and cost determinants in a European inflammatory bowel disease
inception cohort with 10 years of follow evaluation.
Gastroenterology. 2006;131: 719-728.. Markowitz J, Hyanns J, Mark D, et al.
Corticosteroid therapy in the age of Infliximab; acute and one year outcomes in newly diagnosed
children with Crohn’s disease. Clin Gastroenterol Hepatol. 2006;
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TITLE: Uveitis as an initial presentation of celiac disease
AUTHORS/INSTITUTIONS: E. Iofel, K. Soula, Pediatrics, UMDNJ, New Brunswick, NJ;
Abstract Body: 10 year old girl presented with diagnosis of uveitis after failing vision test in school. She had no
gastrointestinal complaints. She denied fevers, joint pains, mouth ulcerations. PMH: unremarkable. FH: significant for
IDDM in father. PE revealed an obese, well appearing child in no distress. Wt 52.6 kg (above 95th percentile) Ht 135.5
cm (75th percentile). Abdomen was soft, nondistended, nontender, without organomegaly or masses. Perianal area
was unremarkable. Stool was guiac negative X3. ESR 34mm/hr, CRP1.8mg/dl. Complete blood count, iron studies
and complete metabolic profile were normal. In order to rule out inflammatory bowel disease small bowel follow
through, as well as fecal calprotectin test were performed and found to be normal. Parents refused endoscopy at that
time. She returned six months later as her eye disease progressed, and she was treated with prednisone and
adalimumab. Celiac disease (CD) screening was performed by the rheumatologist and revealed positive
antiendomysial antibodies. HLA test was positive as well. EGD and colonoscopy were performed. Colonoscopy and
ileoscopy were normal. EGD revealed abundance of intraepithelial lymphocytes in the duodenal biopsies, consistent
with CD. Gluten-free diet was instituted. Her antiendomysial antibodies normalized. Eye changes stabilized and
prednisone was weaned off. She is currently in the process of weaning adalimumab.
Three cases of uveitis as a manifestation of CD were found in the literature, none in children. Unlike other cases, our
patient was completely asymptomatic with the exception of uveitis. Her mucosal biopsies were performed when
patient was treated with both prednisone and adalimumab. This could have ameliorated severity of the mucosal
Conclusions: 1.This rare presentation of CD should be remembered by a gastroenterologist than evaluating patients
with uveitis. 2.CD patients presenting with vision changes should be evaluated by an ophthalmologist to rule out
uveitis, especially those with poor disease control. 3. Recognition of this association could spare patients exposure to
steroids and biologic agents, commonly used in refractory cases of uveitis.
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TITLE: Gastrointestinal Foreign Body: A Hole in One
AUTHORS/INSTITUTIONS: B. Maksimak, Medical Student, Philadelphia College of Osteopathic Medicine,
Philadelphia, PA; J.N. Fussell, Pediatric Residency Program, Geisinger Clinic - Janet Weis Children's Hospital,
Danville, PA; M. Maksimak, Pediatric Gastroenterology and Nutrition, Geisinger Clinic - Janet Weis Children's
Hospital, Danville, PA;
Abstract Body: GH presented as a healthy 2 year old boy for a routine primary care visit. Mom mentioned to the
family physician that the patient had increased stool frequency over the past few months to 3/day with no
gastrointestinal bleeding, weight loss, abdominal pain or obstructive symptoms. The primary care physician noted GH
to have a slightly distended abdomen on exam. An abdominal x-ray was obtained to look for constipation, but it
revealed a small radio-opaque metallic nail in the right lower quadrant. Parents were unable to state when the object
was ingested. Repeat x-ray 4 days later showed no movement of the object. GH was referred to the pediatric GI
clinic approximately 10 days after the initial x-ray. Another KUB showed the object still in the right lower abdominal
quadrant. A colonoscopy for evaluation and removal of the foreign body was scheduled for 5 days later along with a
KUB just prior to the colonoscopy. Again the x-ray showed the presence of the object in the right lower quadrant
despite the colonoscopy cleanout. However, the head of the nail was oriented 180 degrees in the opposite direction.
The colonoscopy failed to detect the object within the colon. An excellent view of the appendix and IC valve was

The patient was taken to surgery later that day and the nail was found at the tip of a 5 cm appendix. There was no
inflammation noted. An appendectomy was performed and the patient was discharged without complication 2 days
later. Multiple x-rays, colonoscopy pictures and surgical specimen photographs will be presented.
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TITLE: Celiac Disease with Intercurrent Eosinophilic Esophagitis
AUTHORS/INSTITUTIONS: A.R. Sicolo, L.J. Wozniak, M.E. Ament, Pediatric Gastroenterology, UCLA Mattel
Children's Hospital, Los Angeles, CA;
Abstract Body: Case Report: 14 year old male with type 1 diabetes mellitus and hypothyroidism diagnosed at age 3,
presented with poor height (<5th %) and weight (10th %) gain, and having one large stool a day, which in the past
year had a very strong and foul odor. There was no significant history of abdominal pain and vomiting. Given his
history of type 1 DM, celiac markers were sent and he was scheduled for endoscopy. His anti-transglutaminase
antibody IgA was abnormal at 5 (normal <4) and endomysial IgA antibody was positive. EGD was performed and
demonstrated duodenal bulb with nodularity and increased vascularity, thickened folds and white marbleized (mosaic)
pattern. Interestingly, the esophagus also had white patches that were biopsied. His small bowel biopsies did not
officially get classified as a type 1 Marsh lesion, but they were still considered to be abnormal (35 lymphocytes/100
enterocytes with villous blunting). Biopsies of the esophagus were significant for eosinophophilia (>30/hpf). He had no
symptoms referable to his esophagus. On the basis of the biopsies and positive anti-transglutaminase antibody, we
placed the patient on a strict gluten-free diet. There has been a major improvement in all of his GI symptoms. He is
having only one bowel movement a day, bloating has resolved, and he no longer has abdominal pain.
Discussion: Celiac disease (CD) and eosinophilic esophagitis (EE) are distinct disorders with specific clinico-
pathological characteristics. Reports suggest an association between the two. A recent study demonstrated that the
prevalence of EE in children with CD is at least 4%. Our patient was initially brought to medical attention because of
symptoms related to his celiac disease and during endoscopy had lesions of suspicion in the esophagus which were
biopsied and later confirmed to be EE. He had no dysphagia, reflux or any history of food being stuck in esophagus.
Coexistent EE should be considered in children with suspected CD undergoing endoscopy. Routine esophageal
biopsies may be warranted when investigating for celiac disease.
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TITLE: Acute Pancreatitis as the initial presentation of Burkitt’s Lymphoma in a six year old boy.
AUTHORS/INSTITUTIONS: H. Chamdawala, J. Xu, R. Gill, S. Schwarz, W.R. Treem, Pediatric Gastroenterology,
SUNY Downstate Medical Center, Brooklyn, NY; J. Amodio, Pediatric Radiology, SUNY Downstate Medical Center,
Brooklyn, NY;
Abstract Body: In children the most common causes of acute pancreatitis are viral infections, drug toxicity and trauma.
Involvement of the pancreas with Non Hodgkin’s Lymphoma (NHL) with resulting pancreatitis has previously been
reported only in adolescents and adults. We now report a case of Burkitt's Lymphoma (BL) with pancreatic
involvement in a six year old boy presenting with acute pancreatitis. Case Report: A six year old boy presented with
one week of abdominal pain, vomiting, jaundice and dark urine. He had abdominal tenderness and no palpable
masses. Laboratory tests showed markedly elevated serum amylase 608 U/L, lipase 2484 U/L, total bilirubin 8.9
mg/dL, direct bilirubin 5.4mg/dL, ALT 272 U/L, AST 246 U/L, Alkaline Phosphatase 783 U/L, GGT 256 U/L and LDH
470 U/L. Ultrasound (US) showed dilated intra and extra-hepatic bile ducts, a diffusely enlarged and hypoechoic
pancreas with no evidence of pancreatic duct dilatation and severe left-sided hydronephrosis. MRI showed a diffusely
enlarged pancreas and two separate pelvic masses, one of which was obstructing the left ureter. The T1 and T2
signal characteristics of the entire pancreas and both the pelvic masses were identical on the MRI. CT guided biopsy
of the pelvic mass demonstrated BL. The patient was started on chemotherapy based on the FAB/ LMB96 protocol
which resulted in rapid resolution of his abdominal pain, vomiting and jaundice. Ten days into the treatment, laboratory
tests showed normalization of his serum amylase 130 U/L, lipase 6 U/L, total bilirubin 1.4 mg/dL and direct bilirubin
0.5 mg/dL. Repeat US showed a dramatic reduction in the pancreatic size. Conclusion: We report a case of BL
presenting with diffuse pancreatic involvement and clinical features of acute pancreatitis in a six year old boy.
Although rare, BL should be included in the differential diagnosis of acute pancreatitis in a young child.
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TITLE: Pediatric Pancreatic Panniculitis
AUTHORS/INSTITUTIONS: A. Chawla, C. Swandal, R. Boykan, Pediatrics, Stony Brook Medical Center, Stony Brook,
Abstract Body: Pancreatic panniculitis is an uncommon sequelae of both acute and chronic pancreatitis, and is even
more rare in the pediatric population. It is hypothesized that the enzymes released with pancreatitis permeate into the
body, leaking into areas containing subcutaneous fat, causing necrosis. Regardless of the etiology of the pancreatitis,
the development of an associated panniculitis appears to retain similar, distinct properties. The initial manifestations
include the development of red, painful nodules on the lower extremities that may ulcerate, leading to drainage of a
clear to brownish fluid.
We present a 10-year-old female with multiple medical problems including holoprosencephaly, diabetes insipidus,
temperature instability and chronic pancreatitis. She presented with progressive abdominal pain, nausea and vomiting
of 3 to 4 weeks duration. She was found to have acute pancreatitis originating from recent abdominal blunt trauma,
amylase level of 902 IU/mL (normal 40-125 IU/mL) and a lipase level of 3090 IU/mL (0-59 IU/mL) were noted. A CT
revealed a 4.0 cm pseudocyst in the area of the pancreatic neck. Pancreatic enzyme levels remained elevated with
amylase of 889 IU/mL and lipase of 2409 IU/mL.
A month later, the patient presented with painful, red-brown nodules on the extensor surfaces of her lower legs as well
as acutely inflamed joints in her fingers and toes with severe swelling and areas of spontaneous skin rupture. All
cultures from these sites were negative.
Abdominal MRI showed inflammatory changes around the pancreas, an enlarging pseudocyst, and dilation of the
main pancreatic duct distal to the cyst cavity. Repeat amylase and lipase levels were 1897 IU/mL and 3885 IU/mL
respectively. Biopsy of the left great toe revealed findings consistent with pancreatic panniculitis. Following
endoscopic decompression of the pancreatic pseudocyst, and starting of G-J tube feeds, repeat imaging at 6 months
showed a normal pancreas, with complete resolution of the panniculitis. Though rare in the pediatric population the
treatment of pancreatic panniculitis is still supportive and directed at the underlying pancreatic disease.
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TITLE: Combination of CFTR Gene Mutation and Autoimmune Pancreatitis Presenting as Necrotizing Pancreatitis
AUTHORS/INSTITUTIONS: H. Patel, J. Levine, T. Weinstein, Division of Pediatric Gastroenterology and Nutrition,
Cohen Children's Medical Center, NSLIJ Health System, New Hyde Park, NY;
Abstract Body: Autoimmune pancreatitis (AIP) and idiopathic pancreatitis secondary to decreased function of cystic
fibrosis transmembrane conductance regulator (CFTR) gene have been reported as 2 distinct etiolgies of pancreatitis.
AIP is frequently described as a mild recurrent pancreatitis. CFTR gene mutations have been associated with
pancreatitis when no other etiology is found. AIP with concurrent CFTR gene mutation appears to worsen symptoms
as shown by our case.
A 16 yo male with recurrent acute pancreatitis presented with severe epigastric pain, fever, emesis, and elevated
amylase and lipase. The patient was diagnosed with necrotizing pancreatitis by CT scan and MRI which showed
pancreatic phlegmon with necrosis. Initial workup revealed heterozygous CFTR gene polymorphism R75Q, a
pancreatic sufficient variant with undetermined clinical significance. His cationic trypsinogen (PRSS-1), secretory
trypsin inhibitor (SPINK-1) and sweat test were nl. He was diagnosed with idiopathic pancreatitis attributed to his
CFTR gene variant and treated with pancreatic enzymes and dietary restriction with resultant improvement. Repeated
bouts of pancreatitis and multiple hospitalizations led to further investigation, including an ERCP demonstrating a
small and fibrotic major papilla and a stricture in the supra-ampullary portion of the pancreatic duct. ERCP findings
raised suspicion for AIP. Further work up revealed a positive ANA and elevated IgG4 level (3x upper limit nl). The
diagnosis of AIP was established based on Japan Pancreas Society criteria given the patient's ERCP, lab and clinical
AIP is an uncommon cause of pancreatitis in the pediatric population, as is idiopathic pancreatitis associated with
CFTR gene polymorphism. It has been suggested that the presence of polymorphism R75Q may predispose patients
to pancreatitis when present with another gene mutation. The combination of a CFTR gene mutation and AIP may
lead to severe pancreatic disease as seen in our patient who presented with necrotizing pancreatitis.
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TITLE: Acute Recurrent Pancreatitis in a Child Heterozygous for the N34S SPINK1 Gene Mutation
AUTHORS/INSTITUTIONS: S. Honigbaum, V. Weerasooryia, M.L. Loscalzo, M.J. Wilsey, , University of South Florida
College of Medicine, Tampa, FL; S. Honigbaum, V. Weerasooryia, M.L. Loscalzo, M.J. Wilsey, , All Children's
Hospital, St. Petersburg, FL;
Abstract Body: Acute recurrent pancreatitis is defined as at least two episodes of acute pancreatitis per year or more
than three episodes over a lifetime in patients without chronic pancreatitis. Pancreatic enzyme levels decline over 3–4
days and often no specific cause is found. Mutations in the secretory trypsin inhibitor (SPINK1) gene have been found
to be associated with both hereditary and chronic pancreatitis. However, there are no previous reports of SPINK1
mutations in pediatric patients with either acute pancreatitis or acute recurrent pancreatitis. We present the case of a
child with acute recurrent pancreatitis found to be heterozygous for the N34S mutation of the SPINK1 gene. CASE
REPORT: Patient is a previously healthy 12 yr old female who presents with a two-day history of acute onset nausea,
vomiting, and abdominal pain. She denied constipation, diarrhea, or bloody stools and there was no family history of
pancreatitis. She first presented to an outside hospital with an amylase of 266 and lipase of 1036. Abdominal U/S was
normal and her pancreatic enzymes quickly normalized with supportive care and she was discharged home. Patient
was re-admitted 12 days later with similar presenting symptoms and an amylase of 573 and a lipase of 330. EBV titers
were equivocal, and CMV titers, triglycerides and MRCP were normal. The patient was discharged home three days
later. Gene testing showed heterozygous change in pN34S in exon 3 of the SPINK1 gene. CFTR, PRSS1 and CTRC
gene testing were normal. CONCLUSIONS: SPINK1 plays important role in protecting the pancreas against excessive
trypsinogen activation and gene mutations have been associated with both hereditary and chronic pancreatitis.
Because SPINK1 is a modifying gene, N34S mutations alone do not necessarily cause pancreatitis, but may act
together with other genetic or environmental factors. We present a child with acute recurrent pancreatitis found to be
heterozygous for the N34S mutation of the SPINK1 gene.
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TITLE: Pancreatitis associated with Alpha 1- antitrypsin deficiency
AUTHORS/INSTITUTIONS: O.F. Almadhoun, T. Rossi, Pediatric GI, University of Rochester Medical Center,
Rochester, NY; Y. Lee , Pediatric Surgery, University of Rochester Medical Center, Rochester, NY;
Abstract Body: Alpha 1-antitrypsin (A1AT) deficiency is a genetic disorder commonly associated with pulmonary and
hepatic injury. While AIAT is frequently considered in the differential diagnosis of chronic pancreatitis, the literature
contains conflicting support for this association.In a comparison study, low levels of this glycoprotein have been
detected in adult patients with chronic pancreatitis than in healthy controls. We report a child with Pi-ZZ phenotype
A1AT deficiency and chronic pancreatitis complicated by chronic abdominal pain and poor weight gain. Our patient is
a 5-year-old boy who had one year history of recurrent episodes of pancreatitis. He underwent multiple admissions
and would exhibit very elevated amylase and lipase levels. In between episodes, he remained active, but he would
rapidly relapse with severe pain for several days. He underwent extensive testing including viral studies, genetic tests
for CFTR mutations,familial pancreatitis including SPINK-1 and PRSS1 genes,IgG4 level, lipid profile were all normal.
Abdominal CT scan and ultrasound and MRCP during the episodes demonstrated edematous pancreas. At ERCP a
stent was placed and post procedure severe pancreatitis occurred. A subsequent ERCP for stent removal revealed
mildly dilated main pancreatic duct with stricture in the neck of the pancreas. Endoscopic ultrasound
(EUS)demonstrated pancreatic changes consistent with chronic pancreatitis. Fecal elastase was extremely low
consistent with this condition. In completing the evaluation for an etiology of chronic pancreatitis, an alpha-1
antitrypsin level was found to be low at 47 (N= >100 mg/dL).Protease inhibitor typing revealed ZZ phenotype
indicating homozygous alpha-1 antitrypsin deficiency.He underwent a pancreaticojejunostomy, which was a modified
Puestow operation for treatment of the stricture. After the surgery, he overall improved clinically but continued with
recurrent episodes of pain in a milder form. This case suggests that AIAT may be a definitive cause of acute recurrent
pancreatitis in childhood.
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TITLE: Solid pseudopapillary tumor of the pancreas in an adolescent female
AUTHORS/INSTITUTIONS: S. Goli, L. Pan, W.R. Treem, S.M. Schwarz, Division of Pediatric Gastroenterology,
SUNY Downstate Medical Center, Brooklyn, NY;
Abstract Body:
Background: Pseudopapillary tumors of the pancreas are rare neoplasms, primarily seen in young women presenting
with abdominal pain and a palpable mass. Herein, we report an adolescent female with cholelithiasis, in whom an
incidental pancreatic mass was found. Immunohistochemical staining techniques on the resected specimen
confirmed the diagnosis of a pseudopapillary neoplasm.

Case Report: An 18 year old obese female presented with nausea, vomiting and epigastric pain radiating to the back.
Abdominal U/S demonstrated cholelithiasis with mild dilatation of the common duct (CBD) but no pancreatic
abnormality. MRCP showed a 5 mm stone in the distal CBD and a non-cystic, 2x2 cm mass in the tail of the pancreas.
 Endoscopic ultrasound (EUS) could not differentiate this mass from normal pancreatic tissue. ERCP with
sphincterotomy achieved clearance of the CBD prior to exploration and cholecystectomy. At surgery, distal
pancreatectomy and splenectomy (secondary to splenic involvement by tumor) were carried out. Routine histology
could not differentiate between a pseudopapillary and a neuroendocrine tumor. However, monoclonal antibody
immunohistochemical staining (beta-catenin, CD10, CD56) clearly identified the mass as a pancreatic,
pseudopapillary neoplasm.

Conclusion: Primary pseudopapillary tumors of the pancreas may present incidentally on radiological exams. Failure
of standard techniques, such as EUS or abdominal U/S to clearly delineate these masses is likely related to similar
densities of neoplastic and benign tissue. Immunohistochemical staining techniques are required to permit
differentiation between pseudopapillary and neuroendocrine pancreatic tumors.
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TITLE: Acute Pancreatitis as the initial presentation of MELAS syndrome
AUTHORS/INSTITUTIONS: E.D. Rosas Blum, F. Navarro, Department of Pediatrics, Division of Pediatric GI,
Hepatology and Nutrition, University of Texas HSC Houston, Houston, TX;
Abstract Body: BACKGROUND: Pancreatitis has been reported in metabolic diseases including organic acidurias, and
rarely in patients with respiratory chain disorders. The mitochondrial myopathy, encephalopathy, lactic acidosis with
stroke-like episode (MELAS) syndrome is a multisystem disorder caused by mitochondrial DNA (mtDNA) mutations in
patients between the ages of 5–15 years. Clinical features consist of stroke-like episodes with brain CT or MRI
abnormalities, lactic acidosis, seizures, dementia, short stature, recurrent headache, and ragged red fibers on muscle
biopsy. CASE PRESENTATION: An 8 year old Hispanic male with no relevant past medical history was found
unresponsive while playing; regained alertness without any intervention and function normally. His mother reports that
later that day he complained of abdominal pain, non-bilious emesis, headaches and an episode of nocturnal enuresis.
Because of worsening lethargy he was taken to the ER where he presented with an episode of apnea where he was
intubated and transferred to the PICU. PE showed weight and height below the 3rd percentile, and a mildly tender
abdomen with no hepatosplenomegaly. Laboratory results showed bicarbonate 9 mmol/L, lipase 2,805 U/L, amylase
646 U/L, and normal results for: toxicology, triglycerides, CK, cultures, serum and urinary amino acids, and plasma
carnitine/acylcarnitine profile. Radiological evaluation revealed a right occipital lobe infarct on MRI and negative
abdominal CT and MRCP. The mtDNA whole genome sequencing revelaed a heteroplasmic m.3243A>G (in tRNA
Leu) mutation and a homoplasmic m.4317A>G (in tRNA lle) mutation. CONCLUSION: We present a case of acute
pancreatitis as the initial presentation of a mitochondrial disorder. The mtDNA mutation confirmed the disorder.
Patient was treated with IV fluids and bowel rest. The patient was able to tolerate a normal diet with normalization of
pancreatic enzymes within 72 hours of admission. Mitochondrial disorders should be part of the differential diagnosis
in patients presenting with acidosis and pancreatitis.
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