Type 2 Gaucher Disease (Acute Infantile Gaucher Disease or Neuropathic Type)

Gaucher disease it a relatively frequent recessive disease affecting 1 in 400,000 to 1 in 200,000 persons and 1 in 400 to 1 in 2000 persons among Ashkenazi Jews. The gene coding for beta-glucocerebrosidase is located on chromosome 1q21-q31. Type 1 Gauche disease is the most common type but is only occasionally observed in children. There is no involvement of the CNS except in rare cases. Type 2 Gaucher disease or neuropathic type is also due to glucosyl ceramide beta-glucosidase deficiency. Clinical features: Symptom onset in infants with Gaucher disease type II is usually before 6 months of age and frequently before 3 months of age. The Initial features are motor regression and cranial nerve dysfunction. Children are first hypotonic and then spastic. Head retraction is an early and charactrestic sign that probably is due to menigeal irritation. Difficulties are sucking and swallowing, trismus, and oclomotor palsies are typical. Mental deterioration is rapid but seizures are uncommon. Type 3 Gaucher disease becomes apparent during the first decade of life the major features at this period being slowly progressive heptosplenomegaly, rapidly associated with intellectual deficiency, cerebellar ataxia and extrapyramidal signs frequently develop. The most suggestive features include supernuclear ophthalmoplegia and in some myoclonic epilepsy. Diagnosis Assay of acid B-glucosylceramidase enzyme activity in peripheral blood leukocytes is reliable for diagnosis which 0 to 15% of normal. Carrier detection and prenatal diagnosis are avalaibale. Management Enzyme therapy reverses the hematologic and visceral manifestation of Gaucher’s disease but does not influence the ultimate progression of neurologic complications in patients with type 2 Gaucher’s disease.