Penner M W, Li K C, Gebarski S S, Allen R J
J Comput Assist Tomogr. 1987 Jul-Aug;11(4):591-3. doi: 10.1097/00004728-198707000-00006.
Pelizaeus-Merzbacher disease (PMD) is a rare, slowly progressive, sex-linked demyelinating disorder generally classified with the sudanophilic leukodystrophies. The onset is most often in the pediatric age group and may be diagnosed as cerebral palsy because of the subtle onset. Cranial magnetic resonance (MR) imaging of two patients with PMD showed reversal of the normal gray/white matter signal relationships, consistent with dysmyelination, as well as low intensity lentiform nuclei and thalami possibly suggesting pathologic iron deposition. Magnetic resonance also better demonstrated low volume brain without the beam hardening limitations of X-ray CT. Although our MR findings correlate well with the pathophysiology of PMD, the MR characteristics are not specific. The diagnosis of PMD remains one of clinical and laboratory exclusion.
佩利措伊斯-梅茨巴赫病（PMD）是一种罕见的、进展缓慢的、性连锁脱髓鞘疾病，通常归类于嗜苏丹性脑白质营养不良。发病最常见于儿童年龄组，由于起病隐匿，可能被诊断为脑瘫。两名PMD患者的头颅磁共振成像（MR）显示正常的灰质/白质信号关系反转，符合髓鞘形成异常，同时豆状核和丘脑呈低信号，可能提示病理性铁沉积。磁共振成像还能更好地显示脑容量减小，而不存在X线CT的束硬化限制。虽然我们的MR表现与PMD的病理生理学密切相关，但MR特征并不具有特异性。PMD的诊断仍然是临床和实验室排除诊断之一。
