Clinical features of Gaucher disease Type 2: a retrospective French study
A retrospective study investigated the clinical history of 15 patients with Gaucher disease Type 2 and assessed available data from 104 published cases of early-onset neuronopathic Gaucher disease.5
In 95% of cases (n=72/76), the first signs of Gaucher disease Type 2 occurred before 9 months of age (mean age, 3.5 months; age range 0‒19 months). It was noted that signs of Gaucher disease were detected in the first few days of life in nine patients (splenomegaly [six cases], neurological signs [five cases] and ichthyosis [a congenital skin condition causing thick, scaly skin; two cases]).5,6 At first examination, neurological and visceral signs appeared in 37% of patients (neurological signs only, 41%; visceral signs only, 22%). If secondary neurological signs became evident, they often occurred at 1 month of age, but rarely beyond 6 months of age (5% of cases).5