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首页> 外文期刊>European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society >Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy.
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Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy.

机译：面肩肱肱型肌营养不良症的癫痫，言语延迟和智力低下。

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摘要

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies which is related to the deletion of tandem repeats on chromosome 4q35. Extramuscular features such as hearing loss, retinopathy, mental retardation, and epilepsy, may be observed in patients carrying large 4q35 deletions resulting in fragment sizes less than 12 kilobases (kb) (normal >35 kb). We report on a family affected by FSHD carrying a small 4q35 deletion and residual fragments length of 17 kb, presenting with epilepsy (three patients), speech delay (two), and mental retardation (one). In all patients semeiology of seizures and interictal EEG anomalies were congruent with a localization-related epilepsy possibly involving the temporal lobe. In conclusion, we provide further evidences that extramuscular findings such as epilepsy, speech delay, and mental retardation may occur in those patients carrying smaller 4q35 deletions, suggesting that a close correlation between 4q35 fragment size and clinical severity in FSHD is therefore not constant. Moreover, a review of the literature and our observations seem to suggest that focal epilepsies, likely related to the temporal lobe in the present family, represent the main type of epilepsy occurring in children with FSHD.
机译：面肩肱型肌营养不良症（FSHD）是最常见的肌营养不良症之一，与染色体4q35上的串联重复序列的缺失有关。在携带大量4q35缺失导致片段大小小于12 kb（kb）（正常> 35 kb）的患者中，可能会观察到肌肉外功能，例如听力下降，视网膜病变，智力低下和癫痫病。我们报道了一个受FSHD影响的家庭，该家庭携带一个小的4q35缺失和17kb的残留片段，伴有癫痫病（3例），语言障碍（2例）和智力低下（1例）。在所有患者中，癫痫发作和发作间期脑电图异常与可能与颞叶有关的局部性癫痫是一致的。总之，我们提供了进一步的证据，即那些携带较小的4q35缺失的患者可能会出现癫痫，言语延迟和智力低下等肌外发现，这表明4q35片段大小与FSHD的临床严重程度之间的相关性不是恒定的。此外，对文献和我们的观察的回顾似乎表明局灶性癫痫可能与当前家庭的颞叶有关，是FSHD患儿发生癫痫的主要类型。

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