Alpers syndrome, also known as mitochondrial DNA depletion syndrome 4A, is a myocerebrohepatopathy spectrum disorder characterized by intractable epilepsy, psychomotor regression, and liver disease. In addition, patients may display other neurological signs, such as ataxia, neuropathy, hypotonia, myoclonus, choreoathetosis, and parkinsonism. Liver degeneration observed in the patients is usually mild at first, but progresses to micronodular cirrhosis, bile-ductular proliferation, and microvesicular steatosis. Most patients are asymptomatic at birth and develop the signs and symptoms of the condition usually within the first two years of life.
Alpers Syndrome is caused by mutations in the POLG gene.
Frydman et al. (1993) reported eight cases of Alpers syndrome in two consanguineous Arab families. Prenatal onset was observed in the first family, whereas the second family presented with early infantile form of the disorder. Severe microcephaly, micrognathia, intrauterine growth retardation, and fetal akinesia were observed in the patients. Complications including refractory neonatal convulsions, swallowing difficulties, and pneumonia affected the clinical course of patients in both families, and all the patients died before the age of 20 months.