Tournev I, Kalaydjieva L, Youl B, Ishpekova B, Guergueltcheva V, Kamenov O, Katzarova M, Kamenov Z, Raicheva-Terzieva M, King R H, Romanski K, Petkov R, Schmarov A, Dimitrova G, Popova N, Uzunova M, Milanov S, Petrova J, Petkov Y, Kolarov G, Aneva L, Radeva O, Thomas P K
Department of Neurology, Medical University, Sofia, Bulgaria.
Ann Neurol. 1999 Jun;45(6):742-50.
During a study of hereditary motor and sensory neuropathy-Lom in Bulgaria, a previously unrecognized neurological disorder was encountered, mainly in Wallachian Gypsies, who represent a relatively recent genetic isolate. The disorder has been termed the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome to emphasize its salient features. Fifty individuals from 19 extended pedigrees were identified and examined clinically and electrophysiologically. At least 1 patient from each family was admitted to the hospital in Sofia for full investigation. Pedigree analysis indicates autosomal recessive inheritance. The disorder is recognized in infancy by the presence of congenital cataracts and microcorneas. A predominantly motor neuropathy beginning in the lower limbs and later affecting the upper limbs develops during childhood and leads to severe disability by the third decade. Associated neurological features are a moderate nonprogressive cognitive deficit in most affected individuals together with pyramidal signs and mild chorea in some. Accompanying nonneurological features include short stature, characteristic facial dysmorphism, and hypogonadotrophic hypogonadism. Nerve conduction studies suggest a hypomyelinating/demyelinating neuropathy, confirmed by nerve biopsy. The CCFDN syndrome is thus a pleomorphic autosomal recessive disorder displaying a combination of neurological and nonneurological features.
在保加利亚对遗传性运动和感觉神经病-Lom进行的一项研究中，发现了一种以前未被认识的神经系统疾病，主要出现在瓦拉几亚吉普赛人中，他们是一个相对较新的遗传隔离群体。该疾病被称为先天性白内障面部畸形神经病（CCFDN）综合征，以强调其显著特征。从19个扩展家系中识别出50名个体，并对其进行了临床和电生理检查。每个家庭至少有1名患者被送往索非亚的医院进行全面检查。系谱分析表明为常染色体隐性遗传。该疾病在婴儿期可通过先天性白内障和小角膜的存在而被识别。一种主要累及下肢、随后影响上肢的运动神经病在儿童期发展，到第三个十年会导致严重残疾。相关的神经学特征是大多数受影响个体存在中度非进行性认知缺陷，部分个体伴有锥体束征和轻度舞蹈症。伴随的非神经学特征包括身材矮小、特征性面部畸形和低促性腺激素性性腺功能减退。神经传导研究提示为低髓鞘化/脱髓鞘性神经病，神经活检证实了这一点。因此，CCFDN综合征是一种多形性常染色体隐性疾病，表现出神经学和非神经学特征的组合。
