Case 1 History ---- This 28 year old man died from bilateral bronchopneumonia following a long neurologic illness which began at age 12 with auras/brief complex partial seizures. The seizures changed in form several times (blinking lights, temporary blindness, hemianopsias initially; later generalized tonic-clonic seizures and myoclonic jerks of either arm; at last reverting to hemi-visual field flashing lights) during his lifetime. Serum and CSF lactate were mildly elevated. A skin biopsy ruled out Lafora's disease and neuronal ceroid lipofuscinosis. An MRI at this time showed increased T2 signal in the grey matter of the right occipital region but a repeat scan done later that year showed resolution of that finding. He was started on Clonazepam which controlled his myoclonic seizures. He again began having visual auras with throbbing frontal headaches and also left leg numbness that would last for several hours at a time. Several years later he had total visual loss with headaches, and when his vision returned he had more extensive visual loss on the left. A mitochondrial disease was suspected. A muscle biopsy was performed which was consistent with MELAS and, subsequent workup demonstrated by the transfer RNA mutation A3243 which accounts for about 80% of the DNA changes seen in patients with MELAS. Multiple "cerebrovascular accidents" resulted in occipital blindness bilaterally. He developed non-insulin dependent diabetes mellitus. His older brother had pyloric stenosis (as did the patient) as well as bilateral hearing impairment and diabetes.
