Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia.

Hart Z H, Chang C H, Perrin E V, Neerunjun J S, Ayyar R

Arch Neurol. 1977 Mar;34(3):180-5. doi: 10.1001/archneur.1977.00500150066013.

We describe a 16-year-old boy who has a progressive dementia and seizures. On investigation, he was found to have a mitochondrial myopathy and elevated lactate levels in the blood and cerebrospinal fluid. His sister died at 18 years of age of a similar condition.