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首页> 外文期刊>American journal of medical genetics, Part A >Case report: Adult phenotype of Mulvihill-Smith syndrome.
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Case report: Adult phenotype of Mulvihill-Smith syndrome.

机译：病例报告：Mulvihill-Smith综合征的成人表型。

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Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, short stature, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated. We report a 28-year-old woman with Mulvihill-Smith syndrome, who had a solid pseudopapillary cystic tumor of her pancreas at age 17 years. Her distinctive sleep pattern includes severe insomnia with disappearance of sleep spindles and K-complexes, persisting muscle tone, and loss of slow wave sleep. The clinical and neurophysiological studies are compatible with agrypnia excitata, a sleep disorder attributable to a dysfunction of the thalamo-limbic system. Brain magnetic resonance imaging and single photon emission computed tomography revealed structural and functional deficits in the dorsomedial region of the thalamus and indicated that an alteration in the thalamo-limbic system may underlie the sleep disturbances in MSS. Furthermore, the rapid and severe decline in acquired cognitive function showed the distinct cognitive impairments resembling dementia, including intellectual deficits, memory disorder and executive dysfunction. We posit that an early onset tumor, sleep disorder and cognitive decline are adult manifestations of Mulvihill-Smith syndrome.
机译：Mulvihill-Smith综合征（MSS）的特征在于过早老化，多种着色的痣，减少面部皮下脂肪，微微畸形，短地，心理延迟和复发感染，但是MSS的成人表型尚未划定。我们报告了一个28岁的女性，Mulvihill-Smith综合征，他在17岁时患有胰腺的坚实假缺乏症囊肿。她独特的睡眠模式包括严重的失眠，睡眠主轴和k复合物消失，持续存在肌肉色调，并丧失慢波睡眠。临床和神经生理学研究与Agrypnia excitata相容，患有丘脑 - 肢体系统功能障碍的睡眠障碍。脑磁共振成像和单光子发射计算机断层扫描显示丘脑背部区域的结构和功能缺陷，并表明丘脑 - 肢体系统的改变可能使MS中的睡眠扰动置于睡眠中。此外，获得的认知功能的快速和严重下降显示了类似痴呆的不同认知障碍，包括智力缺陷，记忆障碍和行政功能障碍。我们认为早期发病肿瘤，睡眠障碍和认知下降是Mulvihill-Smith综合征的成人表现。

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