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首页> 外文期刊>Neuropathology: official journal of the Japanese Society of Neuropathology >A 14-year-old girl with lissencephaly and craniofacial dysmorphism
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A 14-year-old girl with lissencephaly and craniofacial dysmorphism

机译：一名14岁的女孩，具有头部畸形和颅面畸形

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The patient was born at 38 weeks gestation with body weight of 2700 g from non-consanguineous parents. She was the third child with two healthy brothers. At 2 months of age, she had afebrile seizures. She was admitted to hospital because of an epileptic state. Her chromosomal pattern was 46XX by G-band analysis. A deletion in the Miller-Dieker syndrome (MDS) region was confirmed by fluorescence in situ hybridization (FISH) for chromosomal testing. Brain CT/MRI revealed lissencephaly and dysgen-esis of corpus callosum: the absence of rostrum and splenium (Fig. 1). Radiologically, no abnormalities were found in the body except the brain. At the age of 4 years, she was hospitalized at a nursing center. Profound mental and motor retardation, seizures and hypertonia were found. She suffered from repeated episodes of bronchitis/ pneumonia, depletion of carnitine, and chronic insufficiency of digestion. Gastrostomy was performed at 6 years of age owing to feeding problems. She died of pneumonia at 14 years of age.
机译：该患者出生于妊娠38周，来自非血缘父母，体重为2700 g。她是第三个孩子，有两个健康的兄弟。在2个月大时，她出现了高热惊厥。她由于癫痫病入院。通过G带分析，她的染色体模式为46XX。通过用于染色体测试的荧光原位杂交（FISH）证实了Miller-Dieker综合征（MDS）区域的缺失。脑部CT / MRI显示call体的小脑性脑发育不全和功能障碍：没有讲台和脾脏（图1）。放射学上，除大脑外，没有发现任何异常。 4岁那年，她在护理中心住院。发现严重的智力和运动障碍，癫痫发作和高渗症。她患有反复发作的支气管炎/肺炎，肉碱耗竭和慢性消化功能不全。由于进食问题，在6岁时进行了胃造口术。她在14岁时死于肺炎。

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