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Article
September 1966

A Syndrome of the Neural Crest

Author Affiliations

LOS ANGELES
From the Division of Neurology, UCLA Medical Center (Dr. Brown), and the Division of Neurology, University of Southern California School of Medicine Childrens Hospital (Dr. Podosin), Los Angeles.

Arch Neurol. 1966;15(3):294-301. doi:10.1001/archneur.1966.00470150072012
Abstract

IN THE past few years a number of cases have been described under the general heading of congenital insensitivity to pain with anhidrosis. In the present article an additional case is reported and a defect in neural crest differentiation proposed as the common underlying embryonic abnormality. The syndrome consists of the following: (1) loss of deep and/or superficial pain sensibility; (2) autonomic dysfunction manifested by (a) pupillary abnormalities ranging from a partial to complete bilateral Horner's syndrome, (b) neurogenic anhidrosis with otherwise normal sweat glands, (c) vasomotor instability with abnormal vanillylmandelic and homovanillic acid urine assays; (3) aplasia of dental enamel; (4) meningeal thickening and cystic change; (5) mild mental retardation; (6) hyporeflexia; (7) blond hair, blue or blue-green eyes, and fair complexion.

Report of a Case  A five-year-old, white boy of Scandinavian extraction was first hospitalized at Childrens Hospital, Los Angeles, on Aug 10, 1965, with a presenting complaint

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