Recovered_PowerPoint_37

							Name:‫سيف الدين عبد الفضيل‬
Age :22 month.
Residence : ‫شندى‬
Tribe : ‫جعليين‬
Informant : his mother.
The patient was referred to
hospital on 7/8/03 as a case
of hepatosplenomegaly for
investigation
The problem started last April
when he had an attack of fever
and cough,and the mother was
concerned mainly about the
increase in his umbilical hernia,
and on seeking medical advice,
his doctor informed the mother
that her baby has got a big
spleen
And advised her for
consultation in Khartoum.
Lately on beginning of
August he had another
attack of fever and cough
and his doctor referred him
to Khartoum again because
of his big spleen.
By reviewing his systems,he
has poor appetite .
Apart from that there is no
other complaint.
Apart from his two previous
admission in Shandi, no
other admission.
No H/O jaundice,bleeding
,or blood transfusion.
The mother was not an ANC
attender, her pregnancy was
uneventful,she had never
been on long term
medication,not known DM or
HPN.
The patient was the outcome
of FTSVD at home attended
by trained midwife, he cried
immediately and fed soon
after delivery.
His postnatal period passed
uneventfully.
Regarding his gross motor
achievement:rolling on bed
at 8m, sat alone at 9m,
bottom-shuffling at 1yr ,walk
with support at 17 m, now he
can stand and walk 1-2 steps
alone.
Regarding his fine motor
achievement : mother can not
recall clearly the event.
Regarding his language
achievement : he can only
say mama and dada.
Regarding his personal and
social achievement: social
smile at 2m, feed self at 19m,
can drink alone now, he is
toilet trained
*He was exclusively on
breast feeding during the
first 4 months, after that
gradual weaning was
started, now he is on normal
Sudanese diet.
* He is vaccinated up to his
age.
27 yrs              29 yrs
3rd class primary    4th class primary
school, farmer       school, housewife




                            12 yrs    9 yrs
  No family history of similar condition.
*The patient lives with his
family in their own 3 roomed
house which is supplied with
water and electricity, they are
of low socioeconomic status.
* The patient is not on long
term medication and not
allergic to any drug.
O/E :
 The patient looked ill, irritable,
pale ,not cyanosed or
icteric,afebrile, no
lymphadenopathy.BP 75/50
Anthropometric measurement:
wt 7 kg (<5th percentile)
HC 45.5 cm (at 5th percentile)
Length 72 cm(<5th percentile)
CVS: p. 110/min regular,good
volume,synchronus, no
radiofemoral delay, peripheral
pulses are palpable ,apex at 4th
ics,normal s1 s2 no murmur.
CHEST: normal contour, symmetric
RR26/min, normal vesicular
breathing, no added sounds.
Abdomin: distended,with umbilical
hernia, liver is palpable
,firm,smooth with sharp edge, 7cm
bcm ,liver span 12cm.
Spleen is 12 cm bcm firm
smooth.both kidneys are not
palpable, no ascites.
No LLs oedema,normal genitalia.
MSS & Skin : NAD.
CNS : Conscious ,cranial nerves
intact, fundus normal,ULs and
LLs normal tone, power and
reflexes,sensation is intact.
According to DDST his
developmental age is 12mths.
Differential diagnosis :
  *Gaucher disease.
 *Niemann-Pick disease.
Investigation:
** CBC 7/8/03
 Hb 5 gm/dl PCV 17%
 WBC 4.200 c/ccm
 Platelets reduced. ESR90mm/hr.
 PBP: microcytic, hypochromic,with
anisopoikilocytosis
,occ.macrocytosis.
WBC : normal morphology with
reactive lymphocytosis.
** CBC 2/9/03
  Hb 9.8 gm/dl Hct 32.6 %
MCV 75.5 fl MCH 22.7pg
MCHC 30.1g/dl RETIC :0-1%
WBC 5.300 c/cm LYMPH:52.8%
NEUT.:39.8%
PLATELETS :43.000 ESR: 18mm/hr
PBP: dimorphic picture , marked
anisopoikilocytosis,few macrocytes.
WBC :normal morphology.
**Urine general : clear.
**Stool general : clear.
**LFT : T.protein 5.6 gm/dl
           Albumin 3.8 gm/dl
           T. bilirubin 0.5 mg/dl
           Alk. Phosphatase: 10 u/l
           SGPT :4 u/l
           SGOT: 19 u/l
**RBS 78 mg/dl
**Acid phosphatase :27.5 u/l
** CXR.(show)
** ABDOMINAL USS.:Liver enlarged
with normal echo-texture and
normal portal vein and
intrahepatic biliary tree.
Spleen enlarged with normal echo-
pattern, both kidneys are normal,
normal pancrease, no ascites.
** BONE MARROW :
     Cellularity : increased.
     Erythropoiesis : megaloblastic.
     Other cells :Gaucher cells.
     Diagnosis : Gaucher disease.
  Diagnosis
Gaucher disease