Hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction

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Abstract
A family is described in which photic seizures have occurred for 5 generations. These were associated, in many cases, with the existence of diabetes mellitus, deafness, and nephropathy, and in at least 3 members of the family with a progressive cerebral degeneration. The proband underwent a rapid neurological deterioration shortly after her 40th year; pathological study has shown this to be the consequence of diffuse neuronal disease. PAS-positive glycolipids have been demonstrated in abnormal amounts in the brain and renal tubules. An excessive excretion of valine and leucine is also noted in the proband, and the possible significance of this is discussed.