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Familial Dysautonomia in a Hindu Boy

KUMUD MEHTA, MD
Am J Dis Child. 1978;132(7):719. doi:10.1001/archpedi.1978.02120320079018.
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Some authors have stated that familial dysautonomia (Riley-Day syndrome) is found exclusively in Ashkenazic Jews.1 Levine et al2 have recently reported a case in a Brazilian family with no known Jewish ancestry. We are presenting the second non-Jewish case of this syndrome in an 8-month-old boy who fulfills the recognized criteria for diagnosis. This is probably the first well documented case from Asia.

Report of a Case.—This patient is the 8-month-old first male child of nonconsanguinous parents of non-Jewish origin. The pregnancy was uneventful, his birth weight was 2.4 kg, and the postnatal period was unremarkable. He was admitted to the Bai Jerbai Wadia Hospital for Children in Bombay, India, in March 1975 for severe gastroenteritis with dehydration and shock. He was treated with antibiotics and intravenous fluids.

Physical examination revealed a small, poorly nourished child (weight, 3.5 kg; height, 60 cm), with psychomotor retardation. Blood pressure

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