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