Synonyms:
a.k.a. Alper-Huttenlocher syndrome a.k.a. progressive infantile poliodystrophy
Diagnosis:
POLG gene (polymerase gamma), nuclear DNA mutation analysis
Genetics:
POLG gene (polymerase gamma), nuclear DNA mutation
Secondary findings, Mitochondrial DNA (mtDNA) analysis: depletion, deletions, and point mutations
Clinical features:
Status epilepticus, abnormal liver enzymes, axonal neuropathy,
Findings on investigations:
CSF lactate: increased
CSF: may show an inflammatory pattern
EEG: seizures may occur