同患腓骨肌萎缩症 4H 型的兄弟病例，携带有 FGD4 基因纯合突变和马尾神经增粗。
Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening.
机构信息
Department of Neurology, Gunma University Graduate School of Medicine, Japan.
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
出版信息
Intern Med. 2021 Dec 15;60(24):3975-3981. doi: 10.2169/internalmedicine.7247-21. Epub 2021 Jun 19.
Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive inherited demyelinating neuropathy caused by an FYVE, RhoGEF, and a PH domain-containing protein 4 (FGD4) gene mutation. CMT4H is characterized by an early onset, slow progression, scoliosis, distal muscle atrophy, and foot deformities. We herein present sibling cases of CMT4H with a homozygous mutation in the FGD4 gene. Both patients exhibited cauda equina thickening on magnetic resonance imaging, which had not been reported among the previous CMT4H cases. This is the first report of CMT4H with a homozygous FGD4 c.1730G>A (p.Arg577Gln) mutation showing mild progression and cauda equina thickening.
腓骨肌萎缩症 4H 型（CMT4H）是一种常染色体隐性遗传性脱髓鞘神经病，由 FYVE、RhoGEF 和 PH 结构域蛋白 4（FGD4）基因突变引起。CMT4H 的特征是发病早、进展缓慢、脊柱侧凸、远端肌肉萎缩和足畸形。本文报道了 FGD4 基因纯合突变导致的 CMT4H 同胞病例。两名患者的磁共振成像均显示马尾增粗，这在之前的 CMT4H 病例中尚未报道。这是首例 FGD4 c.1730G>A（p.Arg577Gln）突变导致的 CMT4H 纯合子病例，其表现为进展缓慢和马尾增粗。
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