Miura K, Kumagai T, Matsumoto A, Iriyama E, Watanabe K, Goto K, Arahata K
Department of Pediatric Neurology, Central Hospital, Aichi Welfare Center for Persons with Developmental Disabilities, Japan.
Neuropediatrics. 1998 Oct;29(5):239-41. doi: 10.1055/s-2007-973568.
Two cases of early onset facioscapulohumeral muscular dystrophy (FSHD) with mental retardation and epilepsy are reported. They were sporadic, unrelated, severely affected females. In both cases, Southern blot analysis of the EcoRI-digested genomic DNA, using probes p13E-11 and pFR-1, detected the shortest 10 kb EcoRI fragments reported to date. Patient 1 showed infantile spasms at the age of 4 months and localization-related epilepsy at the age of 2.5 years. Muscular atrophy in the face, shoulder girdle and upper arms was observed from the age of 4 years. In Patient 2, lack of facial expression was noticed since the age of 1 year, and at 4 years she was noted to have a loss of bilateral upward gaze. She developed localization-related epilepsy at the age of 9 years. From the age of 10 years, weakness of the lower limbs progressed and she became wheelchair-bound at the age of 14 years and 8 months. She had moderate sensorineural hearing loss, a loss of bilateral upward gaze and tongue atrophy. Their IQs were 33 and 45, respectively. The two patients suggest that mental retardation and epilepsy may be part of the clinical spectrum of FSHD, especially in very early onset patients with large deletions.
报告了两例伴有智力发育迟缓及癫痫的早发型面肩肱型肌营养不良症（FSHD）病例。她们为散发、无血缘关系且病情严重的女性。两例患者经EcoRI酶切基因组DNA，采用p13E - 11和pFR - 1探针进行Southern印迹分析，均检测到了迄今报道的最短10 kb EcoRI片段。患者1在4个月大时出现婴儿痉挛，2.5岁时出现局灶性癫痫。4岁时观察到面部、肩胛带及上臂肌肉萎缩。患者2在1岁时即被发现面部表情缺乏，4岁时发现双眼向上凝视丧失。9岁时出现局灶性癫痫。10岁起下肢无力进展，14岁8个月时需依靠轮椅行动。她有中度感音神经性听力损失、双眼向上凝视丧失及舌萎缩。她们的智商分别为33和45。这两例患者提示智力发育迟缓及癫痫可能是FSHD临床谱的一部分，尤其是在具有大片段缺失的极早发型患者中。
