Loughan Ashlee R, Harrell Murphy, Perna Robert, Allen Aislyn, Suddarth Brian
a Department of Neurology , Virginia Commonwealth University , Richmond , Virginia , USA.
b Department of Psychology , University of South Carolina , Aiken , South Carolina , USA.
Appl Neuropsychol Child. 2017 Oct-Dec;6(4):369-377. doi: 10.1080/21622965.2016.1182432. Epub 2016 May 23.
Megalencephaly-Capillary Malformation Polymicrogyria (M-CAP) is a rare genetic disorder characterized by a spectrum of anomalies including macrocephaly and neurovascular malformations. Although developmental delays have been identified, research is devoid of neuropsychological data. This case report presents the neuropsychological profile of a 7-year-old, identified with M-CAP. Neuropsychological evaluation was completed subsequent to medical diagnosis. Reports from both parents and teachers included cognitive regression; specifically in the recall of learned material, reading, and information sequencing. Direct testing revealed a WISC-IV GAI at <1 percentile, a diverse range of scores across the battery, and a splinter skill strength of average to above on visual memory tests. Performance included below grade level reading and writing, reduced adaptive functioning, and reported executive dysfunction. Her strong visual memory skills were recommended as a medium to enhance learning. Neurocognitive deficits revealed diverse, multisystem and multifocal impairments. The neuropsychological evaluation also showed significant decline from the previous evaluation and prompted a neurologic consult and corrective surgical procedure.
巨脑回-毛细血管畸形伴多小脑回（M-CAP）是一种罕见的遗传性疾病，其特征是一系列异常，包括巨头畸形和神经血管畸形。尽管已经发现了发育迟缓的情况，但缺乏神经心理学数据。本病例报告展示了一名确诊为M-CAP的7岁儿童的神经心理学概况。在医学诊断之后完成了神经心理学评估。父母和教师的报告均显示存在认知衰退；具体表现为在所学材料的回忆、阅读和信息排序方面。直接测试显示韦氏儿童智力量表第四版（WISC-IV）的一般能力指数（GAI）低于第1百分位，整个测试组的分数范围多样，在视觉记忆测试中存在平均水平及以上的特殊技能优势。其表现包括低于年级水平的读写能力、适应性功能下降以及报告的执行功能障碍。建议利用她较强的视觉记忆技能作为一种促进学习的手段。神经认知缺陷显示出多样、多系统和多灶性损伤。神经心理学评估还显示与之前的评估相比有显著下降，并促使进行神经科会诊和矫正手术。
