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Alper's disease; progressive sclerosing poliodystrophy
Pathology:
- progressive degeneration of grey matter of the cerebrum
Genetics:
- mutations in mitochondrial DNA in some patients
Clinical manifestations:
1) convulsions early in life, unrelenting eventually leading to death
2) developmental delay
3) progressive mental retardation
4) hypotonia
5) spasticity
6) dementia
7) jaundice
8) cirrhosis may lead to liver failure
9) optic atrophy may occur resulting in blindness
Management:
1) treatment symptomatic & supportive
2) anticonvulsants for seizures
- avoid valproic acid (may increase risk of liver failure)
3) physical therapy for spasticity
Prognosis:
1) no cure & no way to slow progression
2) death in 1st decade of life
General
neurodegenerative disease
References
- NINDS Alpers' Disease Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Alpers-Disease-Information-Page