Baethmann M, Göhlich-Ratmann G, Schröder J M, Kalaydjieva L, Voit T
Department of Paediatrics, University Hospital Essen, Germany.
Neuromuscul Disord. 1998 Apr;8(2):90-4. doi: 10.1016/s0960-8966(98)00011-x.
We present a 13-year-old Bulgarian girl with a new form of demyelinating neuropathy with hearing loss. The clinical and neuropathological features of the patient were similar to those of the recently described hereditary motor and sensory neuropathy type Lom (HMSNL), first identified in a large Bulgarian Gypsy population. Neuropathological examination of a peripheral nerve biopsy revealed an excess of nerve fibres with inappropriately thin myelin sheaths compared with the axon diameter, surrounded by concentric Schwann cells without typical onion-bulb formation. The parents of our patient are unaware of Gypsy ancestry and are not in a consanguineous marriage. Genetic analyses showed that the patient was homozygous for the predominant HMSNL haplotype on 8q24. Our findings indicate that HMSNL should be considered in the differential diagnosis of any patient presenting with the symptoms of demyelinating neuropathy with hearing loss, even if no Gypsy ethnic background is reported.
我们报告一名13岁的保加利亚女孩，患有伴有听力丧失的新型脱髓鞘性神经病。该患者的临床和神经病理学特征与最近描述的洛姆型遗传性运动和感觉神经病（HMSNL）相似，后者最初在保加利亚的一个大型吉普赛人群中被发现。对周围神经活检进行的神经病理学检查显示，与轴突直径相比，有过多神经纤维的髓鞘不适当变薄，周围环绕着同心状施万细胞，无典型洋葱球样结构形成。我们患者的父母不知道有吉普赛血统，且并非近亲结婚。基因分析表明，该患者在8q24上的主要HMSNL单倍型为纯合子。我们的研究结果表明，对于任何出现伴有听力丧失的脱髓鞘性神经病症状的患者，即使未报告有吉普赛族裔背景，在鉴别诊断中也应考虑HMSNL。
