Problems in diagnosing neurofibromatosis.
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Biomedical subjects
Publications and source records attributed to A E Rubenstein.
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Cholinergic autonomic function was abnormal in a 47-year-old woman with Eaton-Lambert syndrome (ELS), not associated with carcinoma. Pupillary constriction to light and accommodation, sweating, lacrimation, and salivation were all affected. There was no evidence of Sjogren syndrome or botulinum intoxication. The defect of acetylcholine release from presynaptic terminals in the Eaton-Lambert syndrome may not be restricted to the neuromuscular junction of skeletal muscle.
Two cases of an acute myopathy without muscle pain, tenderness, or swelling are described in alcoholic patients. Both were associated with severe hypokalemia and were largely reversible with potassium repletion. Hypokalemia may be the cause of some cases of acute myopathy in alcoholism, particularly those in which muscle cramps are absent.
A consanguineous family is described in which autonomic dysfunction developed in the father during adult life while the son had familial dysautonomia at birth. The father's condition is felt to be secondary to olivopontocerebellar atrophy. The concurrence in this family of an adult and a childhood form of dysautonomia may be an expression of the same genetic defect at different stages of development.
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