Kondo Daisuke, Shinoda Koji, Yamashita Ken-Ichiro, Yamasaki Ryo, Hashiguchi Akihiro, Takashima Hiroshi, Kira Jun-Ichi
Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Japan.
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Neuromuscul Disord. 2017 Oct;27(10):959-961. doi: 10.1016/j.nmd.2017.07.011. Epub 2017 Jul 26.
Charcot-Marie-Tooth disease type 4H (CMT4H) is a rare variant of autosomal recessive hereditary neuropathy. It is caused by FGD4 mutations and characterized by early infantile onset, slowly progressive distal muscle weakness, scoliosis, and myelin outfoldings visible in nerve biopsy samples. Here, we report a 65-year-old male born to consanguineous parents, who carries a novel homozygous FGD4 c.724C>T nonsense mutation. He developed lower limb weakness in his teens, which progressed slowly and was accompanied by diplopia, bilateral hearing loss, and erectile dysfunction from his twenties. At the age of 65, he was wheelchair-bound and had mild scoliosis, bilateral ophthalmoplegia, facial muscle weakness, inner ear hearing loss, distal-dominant weakness, and sensory disturbance, but no cognitive deterioration. Magnetic resonance imaging revealed enlarged bilateral trigeminal and facial nerves. Accordingly, we believe that this mutation causes slowly progressive sensorimotor neuropathy with apparent cranial nerve involvement, thereby further expanding the clinical spectrum of CMT4H.
遗传性运动感觉神经病4H型（CMT4H）是常染色体隐性遗传性神经病的一种罕见变异类型。它由FGD4基因突变引起，其特征为婴儿早期发病、远端肌肉无力缓慢进展、脊柱侧弯以及在神经活检样本中可见髓鞘折叠。在此，我们报告一名65岁男性，其父母为近亲结婚，他携带一种新的纯合FGD4基因c.724C>T无义突变。他在十几岁时出现下肢无力，病情缓慢进展，从二十多岁起伴有复视、双侧听力丧失和勃起功能障碍。65岁时，他只能依靠轮椅行动，有轻度脊柱侧弯、双侧眼肌麻痹、面部肌肉无力、内耳听力丧失、以远端为主的肌无力和感觉障碍，但无认知功能减退。磁共振成像显示双侧三叉神经和面神经增粗。因此，我们认为该突变导致了伴有明显颅神经受累的缓慢进展性感觉运动神经病，从而进一步拓展了CMT4H的临床谱。
