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. Follow-up ranged from 3 to 27 years (average, 10 years). We reviewed their clinical and radiographic histories. Patients presented with four types of pain: six (7 events of pain) complained of dull pain defined as nonspecific; seven (11 events) had severe pain caused by bone crisis; two (2 events) had moderate progressive pain caused by pathological fractures; and one had painful swollen ankles caused by degenerative arthritis. Greater awareness of these complications in patients with Gaucher disease will prevent misdiagnosis and lead to early treatment.