Encephalopathy due to prosaposin deficiency
ORPHA:139406· ICD-10 E75.2
Definition
A rare neurometabolic disease characterized by severe neurologic symptoms including grand mal seizures, massive myoclonic bursts, hypotonia, abnormal ocular movements, dystonia and hepatosplenomegaly. Symptoms appear at or shortly after birth and follow a rapidly progressive fatal course. All patients manifest with lipid accumulation due to lysosomal dysfunction with histologic findings of accumulation of various sphingolipids (e.g., glucosylceramide, ceramide, sulfatides, globotriaosylceramide).
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal