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Type 1 Gaucher's Disease


									Medical Grand Rounds
  Clinical Vignette
     January 9th, 2008

     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
   – Liver transplantation.
   – Treatment with FK506 and prednisone.
• 3 months post-liver transplant: enzyme replacement therapy
• 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
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.
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

                                     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

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