The patient presented also with other previously described features, such as diabetes, short stature, white matter lesions, hypoacusis, migraine, hepatopathy, steatosis hepatis
[hindawi.com]
Hepatopathy: Enlarged liver and intractable liver failure, myopathy. Severe lactic acidosis. Death is typical within the first year. Cause: Probably autosomal recessive.
[umdf.org]
[…] in early infancy and childhood, the majority of the typical phenotypic features (CPEO, pigmentary retinopathy, elevated CSF protein, and cardiac conduction defects) and hepatopathy
[hindawi.com]