Involvement of the foot and ankle in patients with Gaucher disease

Of 48 children with type I Gaucher disease treated at our hospital, 11 had involvement of the foot and ankle that first appeared in adolescence. Follo w-up ranged from 3 to 27 years (average, 10 years). We reviewed their clini cal and radiographic histories. Patients presented with four types of pain: six (7 events of pain) complained of dull pain defined as nonspecific; sev en (11 events) had severe pain caused by bone crisis; two (2 events) had mo derate progressive pain caused by pathological fractures; and one had painf ul swollen ankles caused by degenerative arthritis. Greater awareness of th ese complications in patients with Gaucher disease will prevent misdiagnosi s and lead to early treatment.