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Very rare progressive neurologic disorder, predominantly involving the gray matter, and characterized by spasticity and myoclonia. Dementia ensues combined with hepatic cirrhosis. Poor prognosis, generally within a few months. Possible exacerbation by stress or infection.

Progressive Sclerosing Poliodystrophy; Alpers Huttenlocher Syndrome; Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis; Alpers Progressive Infantile Poliodystrophy; Christensen Disease; Christensen-Krabbe Disease; Diffuse Cerebral Degeneration in Infancy; Progressive Cerebral Poliodystrophy; Progressive Neuronal Degeneration of Childhood with Hepatic Cirrhosis.

First recognized by Alfons Maria Jakob and first described by Bernard Alpers in 1931.

Fewer than 50 cases have been described. Both genders are equally affected.

Autosomal recessive. Certain affected individuals may inherit the genetic predisposition for the disorder. However, some researchers do not believe in a genetic cause, and increasing evidence indicates that Alpers syndrome may be a manifestation of childhood prion disease.

Acute impairment of mitochondrial function leading to a potentially reversible cytotoxic cerebral edema could play an important pathogenetic mechanism in Alpers syndrome. Mitochondrial mutations or deletions may cause a defect in the electron transport chain and consequently impaired oxidative phosphorylation, oxidative stress, and metabolic disturbances.

Onset is early in life, with convulsions (most often in the second year of life). The diagnosis of Alpers syndrome usually follows a thorough clinical examination followed by special investigations. Abnormal electroencephalography (high-amplitude slow waves in combination with lower-amplitude polyspikes), progressive brain atrophy on CT or MRI, microcephaly, loss of visual evoked potentials, and abnormal liver function tests point to the diagnosis of Alpers syndrome. Histopathologic examination of the brain reveals spongiform degeneration and microcystic lesions with loss of neurons and demyelination, reactive cortical gliosis, and accumulation of lipids. Severe loss of almost all granular cells and persistent Purkinje cells can be found in the cerebellar cortex. The cerebral lesions can be unilateral or bilateral and predominately affect the occipital and parietal cortex, but cerebellum, brainstem, and basal ganglia also are involved. Widespread necrosis may involve the hippocampus, thalamus, substantia nigra, and amygdala.

Alpers disease usually begins in early childhood, predominantly affects the cerebral gray matter, and is characterized by progressive dementia and/or regression (loss of milestones), growth retardation, audiovisual impairment (blindness is possible), intractable seizures, myoclonus, ataxia, spasticity, areflexia, nystagmus, hypotonia, partial paralysis, dysphagia, and often liver damage. Liver involvement usually is a late sign and may result in jaundice, liver failure, and hepatic cirrhosis. Liver transplant does not result in clinical improvement and is not recommended at this point. Clinical exacerbation of seizures during stress (surgery) or infections has been described. Several biochemical abnormalities have been described in patients with Alpers disease, including dysfunction of the citric acid cycle, decreased levels of cytochromes a and aa3, decreased utilization of pyruvate, and deficiency of pyruvate dehydrogenase. As the disease progresses, many children become hypotonic, anemic, and thrombocytopenic. Progressive psychomotor deterioration (commonly with status epilepticus) in combination with acute hepatic failure finally ...

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