Gaucher's disease perinatal lethal

info · Genetic · ICD-10: E75.2

A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.

Signs and symptoms

Congenital nonbullous ichthyosiform erythroderma
Pulmonary hypoplasia
Hepatomegaly
Nonimmune hydrops fetalis
Splenomegaly
Arthrogryposis multiplex congenita
Decreased fetal movement
Thrombocytopenia
Progressive neurologic deterioration
Decreased body weight

Also known as: Fetal Gaucher Disease; Gaucher Disease, Collodion Type