After the child began to show the same symptoms as the others, an MRI of the child's brain revealed a thalamic abnormality, and testing revealed Alpers syndrome caused by POLG gene mutations.
* PARENTS' CLAIM The chances of having a child with Alpers syndrome are about 1:200,000 in the general population; if one parent is a known carrier, the chance is 1:1,000.
Infantile Hepatocerebral Syndrome (Alpers Syndrome) (OMIM 203700 and 251880)
Infantile diffuse cerebral degeneration was reported by Bernard Alpers in 1931 (62) and was further clarified in 1960 as a clinical syndrome, (63) which was later referred to as Alpers syndrome. However, the link between cerebral neuropathy and liver failure was later recognized by Huttenlocher et al in 197664; therefore, it is sometimes also referred to as Alpers-Huttenlocher syndrome.
Alpers syndrome is characterized by psychomotor retardation, intractable epilepsy, and liver failure in infants and young children.
Although some clinical presentations, such as progressive external ophthalmoplegia sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; or a combination of cerebral degeneration and liver failure in Alpers syndrome, may be quite characteristic, most patients with mitochondrial disorders have variable and nonspecific presentation, especially in the early stages of disease.
Cerebral atrophy or edema is a frequent finding in Alpers syndrome. Rarely, signs of leukoencephalopathy and calcifications of the basal ganglia can be present in magnetic resonance imaging and computed tomography imaging (57) of patients with PEO.
Liver biopsy could be very helpful when it is the only available tissue with detectable morphologic abnormalities, such as in Alpers syndrome. On the other hand, cardiac muscle biopsy itself is rarely helpful because of the high incidence of mitochondrial changes secondary to commonly seen cardiomyopathy and chronic heart failure.
Some characteristic histopathology findings are very helpful in diagnosing Alpers syndrome at autopsy.
The group includes BSE of cows, serapie which affect sheep and goats; transmissible mink encephalopathy (TME); feline spongiform encephalopathy; chronic wasting disease (CWD) of mule deer and rocky mountain elk; and kuru, Gerstmann-Straussler-Seheinker syndrome (GSS), fatal familial insomnia (FFI), Alpers syndrome
, and Creutzfeldt-Jakob disease (CJD) of man.