Gaucher's disease type II

info · Genetic · ICD-10: E75.2

A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.

Signs and symptoms

Failure to thrive
Global developmental delay
Hypertonia
Progressive neurologic deterioration
Recurrent aspiration pneumonia
Strabismus
Stridor
Bulbar signs
Seizure
Rigidity

Also known as: GD II; GD2; Gaucher Disease, Acute Neuronopathic Type; Infantile Cerebral Gaucher Disease