先天性中枢通气不足综合征、赫氏病和贝克尔肌肉萎缩症同时存在

Yuki Kawashima , Satoka Akiyama , Yosuke Yamada , Masahiro Noda , Kunihiro Oba , Hirofumi Komaki , Koji Komori , Ayako Sasaki , Masashi Ogasawara
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引用次数: 0

摘要

背景先天性中枢通气不足综合征(CCHS)是一种罕见的遗传性疾病,主要由 PHOX2B 基因缺陷引起。我们首次描述了一例同时患有 CCHS、赫氏prung 病(HSCR)和贝克尔肌营养不良症(BMD)的男性患者。通过对 PHOX2B 基因进行分子分析,发现该基因有一个包含 27 个重复序列(正常基因包含 20 个重复序列)的杂合子多丙氨酸重复扩增突变,从而怀疑并确诊为 CCHS。患者在 1 个月时接受了气管造口术。他还出现了腹胀。造影剂灌肠确诊为 HSCR。2 个月时植入了经肛门减压管,14 个月时进行了最终修复。随访期间,他发现肌酸激酶水平升高。通过多重连接依赖性探针扩增(MLPA)对肌营养不良基因进行了缺失筛查,结果发现 DMD 基因第 45-55 号外显子缺失,诊断为 BMD。7 岁时,他在睡眠时仍需持续呼吸支持。他运动困难并伴有肌痛,这可能是 BMD 引起的症状。到目前为止,他还没有出现心脏异常;他的全量表智商评分在正常范围内。 讨论/结论 本病例说明了认识到在一名患者身上同时存在两种不同的单基因疾病的重要性,以及对 CCHS、HSCR 和 BMD 患者进行适当治疗的必要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Coexistence of congenital central hypoventilation syndrome, Hirschsprung disease, and Becker muscular dystrophy

Background

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder mostly caused by a genetic defect in PHOX2B. We describe for the first time a case of a male patient with the coexistence of CCHS, Hirschsprung disease (HSCR), and Becker muscular dystrophy (BMD).

Case presentation

The patient presented with hypoventilation and required ventilatory support during the neonatal period. The diagnosis of CCHS was suspected and confirmed by molecular analysis of the PHOX2B gene, revealing a de novo heterozygous polyalanine repeat-expansion mutation containing 27 repeats (normal gene contains 20 repeats). The patient had tracheostomy at 1 month. He also developed abdominal distention. Contrast enema confirmed the diagnosis of HSCR. Transanal decompression tube was indwelled at 2 months and definitive repair was performed at 14 months. During follow-up, he was found to have elevated creatine kinase levels. The dystrophin gene was screened for deletions by Multiplex ligation-dependent probe amplification (MLPA) and the deletion of exons 45–55 of the DMD gene was detected, leading to the diagnosis of BMD. At 7 years of age, he remains on continuous ventilatory support during sleep. He has difficulty playing sports and myalgia, which could be the symptoms due to BMD. So far, he has not exhibited cardiac abnormalities; his Full-Scale Intelligence Quotient score is within the normal range.

Discussion/Conclusion

This case illustrates the importance of recognizing the coexistence of two different monogenic disorders in a single patient and the necessity of appropriate management in patients with CCHS, HSCR, and BMD.

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