Castellacci A M, Gualtierotti R, Santillo G, Simoni F, Pieroni O, Pazzaglia R
Divisione di Pediatria, Ospedale di Castelnuovo Garfagnana, Lucca, Italia.
Pediatr Med Chir. 1992 Mar-Apr;14(2):223-6.
The authors report a case with Fukuyama type congenital muscular dystrophy (FCMD) and severe ocular abnormalities. Muscular dystrophy was confirmed by EMG, high muscle enzyme value and muscular biopsy. Computed tomography (CT) of the brain at 15 months of life showed mild central and cortical atrophy. Repeated CT scans at 22 and 32 months showed progressive character of the atrophy, with preservation of the cerebellar areas and the central grey matter only. Ophthalmologist examination revealed nystagmus, severe visual deficit, optic nerve atrophy and irregular color of the retina, especially in the peripheric areas. Electroretinography (ERG) was normal, cortically evoked visual responses (PEV) were absent. The association of congenital muscular dystrophy with brain changes and ocular abnormalities were found in FCMD, muscle-eye-brain disease (MEB) and Walker-Walburg syndrome (WWS). Our report, according to the recent literature, suggests that ocular lesions are caused by the same mechanism that provokes the central nervous system anomalies. It is probably of genetic origin: FCMD, MEB and WWS could be development abnormalities with a continual spectrum of disease severity.
作者报告了一例患有福山型先天性肌营养不良（FCMD）并伴有严重眼部异常的病例。通过肌电图、高肌肉酶值和肌肉活检确诊为肌营养不良。患儿15个月大时的脑部计算机断层扫描（CT）显示轻度的脑中央和皮质萎缩。在22个月和32个月时重复进行的CT扫描显示萎缩呈进行性发展，仅保留了小脑区域和中央灰质。眼科医生检查发现眼球震颤、严重视力缺陷、视神经萎缩以及视网膜颜色不规则，尤其是周边区域。视网膜电图（ERG）正常，皮质诱发视觉反应（PEV）缺失。在FCMD、肌肉-眼-脑疾病（MEB）和沃克-沃尔堡综合征（WWS）中发现了先天性肌营养不良与脑部改变和眼部异常的关联。根据最近的文献，我们的报告表明眼部病变是由引发中枢神经系统异常的相同机制所致。这可能源于遗传：FCMD、MEB和WWS可能是具有连续疾病严重程度谱的发育异常。
