Pieh Christina, Goebel Hans Hilmar, Engle Elizabeth C, Gottlob Irene
Department of Strabismus and Neuroophthalmology, Kantonsspital St. Gallen, St. Gallen, Switzerland.
Department of Neuropathology, Johannes Gutenberg University of Mainz, Mainz, Germany.
Graefes Arch Clin Exp Ophthalmol. 2003 Jul;241(7):546-553. doi: 10.1007/s00417-003-0703-z. Epub 2003 Jun 18.
Congenital fibrosis of extraocular muscles (CFEOM) is a complex strabismus syndrome that typically occurs in isolation and results from dysfunction of all or part of cranial nerves III (CNIII) and IV (CNIV) and/or the muscles that these nerves innervate. Only a few patients with CFEOM and additional central nervous system malformations have been reported. We describe four additional patients with CFEOM associated with central nervous system (CNS) abnormalities.
Four patients who presented with congenital restriction of eye movements in association with neurological abnormalities underwent complete ophthalmological examination including electroretinography (ERG) and eye movement recordings. Neurological examinations, neuroradiological studies, muscle histology, chromosomal and genetic linkage analysis were performed.
Clinical examination and forced duction testing confirmed that all four patients met criteria for CFEOM; all had congenital restrictive ophthalmoplegia primarily affecting extraocular muscles innervated by the oculomotor nerve. Two brothers had CFEOM and Marcus Gunn jaw winking. In each of the four cases, CFEOM occurred in association with one or several neuroradiological findings, including agenesis of the corpus callosum, colpocephaly, hypoplasia of the cerebellar vermis, expansion of the ventricular system, pachygyria, encephalocele and/or hydrancephaly.
We present four cases of CFEOM in association with CNS malformations that confirm that CFEOM can be part of a more complex neurological dysfunction and provide further support to a neurogenic aetiology for this disorder. We also describe for the first time the coexistence of CFEOM and Marcus Gunn jaw winking in two siblings. This suggests a genetic mechanism. Aberrant innervation supports primary developmental abnormality of cranial nerves in CFEOM.
先天性眼外肌纤维化（CFEOM）是一种复杂的斜视综合征，通常单独出现，由全部或部分动眼神经（CNIII）和滑车神经（CNIV）及/或这些神经所支配肌肉的功能障碍引起。仅有少数先天性眼外肌纤维化合并中枢神经系统畸形的患者被报道。我们描述另外4例先天性眼外肌纤维化合并中枢神经系统（CNS）异常的患者。
4例表现为先天性眼球运动受限并伴有神经学异常的患者接受了包括视网膜电图（ERG）和眼球运动记录在内的全面眼科检查。进行了神经学检查、神经放射学研究、肌肉组织学检查、染色体和基因连锁分析。
临床检查和强迫牵引试验证实所有4例患者均符合先天性眼外肌纤维化的标准；所有患者均有先天性限制性眼肌麻痹，主要影响动眼神经支配的眼外肌。2例兄弟患有先天性眼外肌纤维化和Marcus Gunn下颌瞬目。在这4例患者中，每例先天性眼外肌纤维化均伴有一项或多项神经放射学表现，包括胼胝体发育不全、脑室扩张、小脑蚓部发育不全、脑室系统扩大、巨脑回、脑膨出和/或积水性无脑。
我们报告4例先天性眼外肌纤维化合并中枢神经系统畸形的病例，证实先天性眼外肌纤维化可能是更复杂神经功能障碍的一部分，并为该疾病的神经源性病因提供了进一步支持。我们还首次描述了2例同胞中先天性眼外肌纤维化与Marcus Gunn下颌瞬目并存的情况。这提示存在遗传机制。异常支配支持先天性眼外肌纤维化中脑神经的原发性发育异常。
