Takahashi S, Miyamoto A, Oki J, Saino T, Inyaku F
Department of Pediatrics, Asahikawa Medical College, Japan.
Pediatr Neurol. 1995 Sep;13(2):175-7. doi: 10.1016/0887-8994(95)00146-7.
A 2-year-old girl with alobar holoprosencephaly associated with facial abnormalities, central diabetes insipidus, and a neuronal migration disorder is reported. The diagnosis of diabetes insipidus was based on low urine osmolality and low plasma ADH concentration during a water deprivation test, and clinical and biochemical improvement after desmopressin acetate administration. Because the posterior portion of the pituitary was located in the sella turcica and the hypothalamo-pituitary stalk was intact, the diabetes insipidus was presumed to have been caused by hypothalamic osmoreceptor dysfunction. MRI findings were compatible with alobar holoprosencephaly. In addition, heterotopic gray matter was recognized as a continuous band over a single ventricle. Defective cleavage of the prosencephalon associated with a neuronal migration disorder is characteristic of alobar holoprosencephaly.
报告了一名2岁女童，患有叶状全前脑畸形，伴有面部异常、中枢性尿崩症和神经元迁移障碍。尿崩症的诊断基于禁水试验期间低尿渗透压和低血浆抗利尿激素（ADH）浓度，以及醋酸去氨加压素给药后的临床和生化改善。由于垂体后部位于蝶鞍内且下丘脑 - 垂体柄完整，推测尿崩症是由下丘脑渗透压感受器功能障碍引起的。磁共振成像（MRI）结果与叶状全前脑畸形相符。此外，异位灰质在单个脑室上方被识别为连续带。与神经元迁移障碍相关的前脑分裂缺陷是叶状全前脑畸形的特征。
