Pitt-Hopkins Syndrome in a Boy With Charcot Marie Tooth Disease Type 1A: A Rare Co-occurrence of 2 Genetic Disorders
Pitt-Hopkins Syndrome in a Boy With Charcot Marie Tooth Disease Type 1A: A Rare Co-occurrence of 2 Genetic Disorders
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DOI：
10.1177/0883073812437242
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发表时间：
2012-12-01
影响因子：
1.9
通讯作者：
Ghosh, Debabrata
中科院分区：
文献类型：
--
作者：
Ghosh, Partha S.;Friedman, Neil R.;Ghosh, Debabrata
皮特-霍普金斯综合征的特征是明显的智力障碍、过度换气发作和畸形的面部特征。本文报告一个男孩，他表现为发育迟缓、面部畸形、小头畸形、肌张力减退和反射消失。根据家族史和基因检测，他最初被诊断为Charcot玛丽牙病1A型。然而，严重的精神损害是典型的夏科玛丽牙病1A型。在接下来的几年里，他出现了特征性的呼吸异常、手刻板、癫痫发作和明显的便秘。这些表现的演变加上特征性的面部外观建议Pitt-Hopkins综合征的额外诊断，这是由18号染色体上转录因子4的遗传缺陷所证实的。该病例显示了2种遗传性疾病在同一个体中罕见的共同发生。
Pitt-Hopkins syndrome is characterized by marked intellectual impairment, hyperventilation episodes, and dysmorphic facial features. This article reports a boy who presented with developmental delay, facial dysmorphism, microcephaly, hypotonia, and areflexia. He was initially diagnosed with Charcot Marie Tooth disease type 1A based on family history and genetic testing. However, severe mental impairment was atypical of Charcot Marie Tooth disease type 1A. Over the next few years he developed characteristic breathing abnormality, hand stereotypies, seizures, and marked constipation. The evolution of these manifestations coupled with the characteristic facial appearance suggested the additional diagnosis of Pitt-Hopkins syndrome, which was confirmed by the genetic defect of the transcription factor 4 on chromosome 18. This case demonstrates the rare co-occurrence of 2 genetic disorders in the same individual.