• 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)