Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
ORPHA:263410· ICD-10 E88.8
Definition
A rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal