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巨脑回-毛细血管畸形-多小脑回综合征(MCAP):一种罕见的动态遗传性疾病。

Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder.

作者信息

Sarma Kalyan, Nayak Manoj K, Mishra Biswamohan, Gaikwad Shailesh B

机构信息

Neuroradiology, All India Institute of Medical Sciences, New Delhi, New Delhi, IND.

Neurology, All India Institute of Medical Sciences, New Delhi, New Delhi, IND.

出版信息

Cureus. 2022 May 18;14(5):e25123. doi: 10.7759/cureus.25123. eCollection 2022 May.

Abstract

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is an uncommon malformation syndrome, characterized by primary megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly and polymicrogyria. Herein, we report a young male child, who presented with complaints of increasing head size, delay in speech, and one episode of focal seizure with distinctive morphological and neuroradiological manifestations which led to the diagnosis of MCAP. We have also reviewed recently published literature and the various diagnostic criteria proposed by authors to achieve the early clinical diagnosis of these patients in the outpatient department.

摘要

巨脑回-毛细血管畸形-多小脑回综合征(MCAP)是一种罕见的畸形综合征,其特征为原发性巨脑、中线面部和身体的毛细血管畸形,或诸如并指和多小脑回等远端肢体异常。在此,我们报告一名幼龄男童,他因头部增大、言语发育迟缓以及一次局灶性癫痫发作前来就诊,其具有独特的形态学和神经放射学表现,最终诊断为MCAP。我们还回顾了最近发表的文献以及作者提出的各种诊断标准,以便在门诊对这些患者进行早期临床诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af89/9205759/7fdb0951a51b/cureus-0014-00000025123-i01.jpg

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