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Tongue in Familial DysautonomiaA Diagnostic Sign
ALFRED A. SMITH, MD;
ALBERT FARBMAN, DDS;
JOSEPH DANCIS, MD
Am J Dis Child. 1965;110(2):152-153.
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THE HE CLINICAL FEATURES of familial dysautonomia have been described in careful detail. To the clinician familiar with the disease, the diagnosis does not present serious difficulties when the manifestations are fully developed. However, in infancy, before the characteristic signs are evident, the presenting signs of poor feeding, vomiting, and aspiration pneumonia are more commonly attributed to brain damage. Occasionally, in the older child, the clinical picture may also be insufficiently distinct to permit a definite diagnosis.
The purpose of this note is to bring to the attention of pediatricians the fact that simple visual examination of the tongue may be sufficient to suggest and possibly to establish the diagnosis of familial dysautonomia. This observation has been reported and discussed in greater detail elsewhere.2,3 The observation has been confirmed by others.4
The dorsal surface of the tongue is normally covered with conical, filiform papillae. The larger fungiform papillae
. . . [Full Text PDF of this Article]
Author Affiliations
NEW YORK; CHICAGO; NEW YORK
From the departments of psychiatry (Dr. Smith) and pediatrics (Dr. Dancis), New York University School of Medicine and Department of Anatomy (Dr. Farbman), Northwestern University School of Medicine. Dr. Dancis is a Career Investigator of the National Institute of Child Health and Human Development, National Institutes of Health.
Footnotes
Received for publication March 23, 1965.
Read in part before the American Pediatric Society, Seattle, June 16-18, 1964.
Reprint requests to New York University Medical Center, School of Medicine, 550 First Ave, New York, 10016 (Dr. Dancis).
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