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Jeffrey I. Feldman, MD; Donald B. Kearns, MD; Allan B. Seid, MD; Seth M. Pransky, MD; Marilyn C. Jones, MD

Arch Otolaryngol Head Neck Surg. 1990;116(5):613-616.

Abstract
• Pelizaeus-Merzbacher disease is a condition of central nervous system dysmyelination. We describe a familial series in which both otologic and laryngologic abnormalities were present. The diagnosis of this invariably fatal disorder can be made on a clinical and/or pathologic basis. As the otolaryngologic manifestations are often the first to appear, the consulting head and neck surgeon may be essential in the initial diagnosis of this hereditary disease.

(Arch Otolaryngol Head Neck Surg. 1990;116:613-616)

Author Affiliations
From the Department of Surgery, Division of Head and Neck Surgery (Drs Feldman, Kearns, Seid, and Pransky), and the Department of Pediatrics (Dr Jones), University of California, San Diego, and the Departments of Otolaryngology (Drs Kearns, Seid, and Pransky) and Dysmorphology and Genetics (Dr Jones), Children's Hospital and Health Center, San Diego.

Footnotes
Accepted for publication November 1, 1989.

Reprint requests to Pediatric Otolaryngology Associates, 550 Washington St, Suite 621, San Diego, CA 92103 (Dr Kearns).

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