Neurological manifestations of 31 patients with Gaucher disease type 1 (GD1) were evaluated in a study at Miguel Servet University Hospital, Zaragoza, Spain. Twelve were males and 19 females, mean age 39 years (range 5-77). Age at diagnosis of GD was in early childhood or adolescence in 13 (42%) patients. Nerve conduction studies performed in 15 GD1 patients showed abnormalities in 12 (2 children); 26 – 40% showed reduced amplitude or abnormal wave forms in one to 3 nerves. Motor nerve conduction was normal, but sensory nerve conduction amplitude was reduced in 26% patients. Twenty-two patients receiving enzyme replacement therapy for 5-12 years showed neurological manifestations in 9. In adults, these were sensory neuropathy, parkinsonism, dementia, cognitive impairment and stroke; and in children, hypoacusia, myoclonus, and psychomotor delay. [1]
COMMENT. Gaucher’s disease, characterized by cerebroside storage in the reticuloendothelial system, occurs in 3 forms: Type 1) chronic GD, slowly progressive with visceral but rarely nervous system involvement; type 2) infantile GD with rapidly progressive CNS disease; and type 3) juvenile GD, with slowly progressive hepatosplenomegaly, intellectual deterioration, cerebellar ataxia, myoclonic seizures, and spasticity. An adult chronic GD is more common and may present in infancy, with rare CNS involvement. The above study shows that neurological abnormalities, including subclinical neuropathy, occasionally present in childhood GD1, and the classification of GD should be considered as a phenotype continuum.