Feldman J I, Kearns D B, Seid A B, Pransky S M, Jones M C
Department of Surgery, University of California, San Diego.
Arch Otolaryngol Head Neck Surg. 1990 May;116(5):613-6. doi: 10.1001/archotol.1990.01870050113019.
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.
佩利措伊斯-梅茨巴赫病是一种中枢神经系统髓鞘形成异常的病症。我们描述了一个家族系列病例，其中存在耳科和喉科异常情况。这种必然致命的疾病的诊断可基于临床和/或病理依据做出。由于耳鼻喉科表现往往最先出现，咨询头颈外科医生对于这种遗传性疾病的初步诊断可能至关重要。
