Clinical Heterogeneity Among Patients With Gaucher's Disease

Abstract

SELECTED CASES Case 1 A girl born at term to nonconsanguineous parents by spontaneous vaginal delivery had normal early developmental milestones. She smiled at 9 weeks, cooed at 10½ weeks, and rolled over at 14 weeks. However, she developed constant irritability and, on examination, was noted to have hepatosplenomegaly. A liver biopsy performed at 7 months of age revealed Gaucher's disease. Her clinical course was characterized by progressive spasticity, respiratory difficulties, and feeding problems. Treatment of seizures and apnea required frequent hospitalizations; however, she died of apnea at 11 months of age. Comment. —This child demonstrates the clinical course that is typically associated with type 2 (acute neurologic) Gaucher's disease.1Usually, these children are clinically normal at birth and achieve early developmental milestones, but during the first year of life, degenerative neurological disease becomes apparent. The classic clinical triad that rapidly develops includes strabismus, trismus, and hyperextension of the