The otolaryngologic manifestations of Pelizaeus-Merzbacher disease.
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.
Feldman
J I
JI
Department of Surgery, University of California, San Diego.
Kearns
D B
DB
Seid
A B
AB
Pransky
S M
SM
Jones
M C
MC
D001300:Audiometry, Evoked Response; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D004427:Ear Diseases / Q000235:genetics*; D005072:Evoked Potentials, Auditory; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D007818:Laryngeal Diseases / Q000235:genetics*; D008297:Male; D009759:Nystagmus, Pathologic / Q000235:genetics; D010375:Pedigree; D012135:Respiratory Sounds / Q000235:genetics; D014960:X Chromosome