Docstoc

Type 1 Gaucher's Disease

Document Sample
Type 1 Gaucher's Disease Powered By Docstoc
					Medical Grand Rounds
  Clinical Vignette
     January 9th, 2008



            By:
     Noga Chlamtac, MD
         Chief Complaint
29 year old man of Ashkenazi Jewish
 Ancestry, with known Gaucher’s
 disease, presented for
 comprehensive evaluation.
        History of Present Illness
• Age 4: diagnosis of Gaucher’s disease by biopsy of lytic lesion
  in L femoral neck region.
• Age 6: Splenectomy. Pathology confirmed Gaucher’s disease.
• Age 8 to 11: unmodified placental-derived glucocerebrosidase.
• Age 18:
   – Alglucerase.
   – Fractures of the R and L femur.
• Age 19:
   – Hepatic failure & recurrent bleeding from esophageal
      varices.
   – Liver transplantation.
   – Treatment with FK506 and prednisone.
• 3 months post-liver transplant: enzyme replacement therapy
  resumed.
• Maintained on imliglucerase
• No bone related problems.
             Other History
Past Medical History:
• Hepatic Failure
Past Surgical History:
• Splenectomy
• R & L femur ORIF
• Liver Transplantation
Social History:
• Denies use of Tobacco, Alcohol or recreational
  drug use.
Family History:
• No known Gaucher’s disease.
               Other History
Medications:
imliglucerase 30u/kg q 3 weeks

Allergies: None
               Physical Exam
Gen: Short stature, well-nourished.
VS: T 98OF, HR 72, BP 124/70, RR 16
Abd: well-healed splenectomy scars

The rest of the physical exam was entirely normal.
                              Data
Labs                                 MRI: Normal liver volume, no
                                       focal areas of nodularity or
• Hg 12.2 gm/dL                        signal abnormality. Decreased
• Platelets 281,000/mm3                marrow signal in spine,
• Normal PT and PTT                    consistent with diffuse
• Normal Liver function tests          infiltration, and collapse of the
                                       lower and upper ends of
• ferritin 222                         several vertebra, specifically
• Acid phosphatise 1.1 (nl: 0-0.8)     T10-T11 and T12-L1. Signs of
• ACE 98.7 (nl:8-52)                   osteonecrosis in the left
                                       femoral head, which was
                                       deformed.

                                     Echocardiography: normal
                                       findings, and no signs of
                                       pulmonary hypertension.

                                     Bone density: mild osteopenia
                                       (spine T-score -1.17).
    Lymph node biopsy




Pre-transplant                         Post-transplant



                 Starzl et al. 328 (11): 745, Figure 2   March 18, 1993
          Final Diagnosis

• Type I Gaucher’s Disease, compound
  heterozygote for N370S and 84GG

				
DOCUMENT INFO
Shared By:
Categories:
Stats:
views:141
posted:4/11/2008
language:English
pages:9