Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease

Stewart (1973) has informed me of a remarkable family in which a woman, a son and daughter, and the daughter of the daughter had a syndrome of early-onset sensorineural deafness, skin rash, headache, peripheral arterial disease (leading to gangrene after a small dose of ergotamine), peripheral neuropathy, elevation of spinal fluid protein and cells, papilledema, and contracted retinal arteries. Mild saddle nose was present. The family was reported by Campbell and Clifton (1950) as an example of familial toxoplasmosis, a diagnosis based on serologic findings and no longer considered tenable.