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August 1965

Tongue in Familial Dysautonomia: A Diagnostic Sign

Author Affiliations

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.

Am J Dis Child. 1965;110(2):152-153. doi:10.1001/archpedi.1965.02090030162010

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

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