Woods G, Black G, Norbury G
Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, UK.
J Med Genet. 1995 Mar;32(3):191-6. doi: 10.1136/jmg.32.3.191.
We report a family with an undiagnosed X linked condition. The grandmother, two of her three daughters, and one of her grand-daughters have a slowly progressive proximal weakness, brisk reflexes, poor bladder function, static reduced night vision, and IgG2 deficiency. The diagnosis of the three living symptomatic females was "hereditary spastic paraplegia plus". They have lost five male children who died in the neonatal period of severe hypotonia and were of low birth weight. Investigations have not led to a unifying diagnosis: myotonic dystrophy, NARP, and X linked hyper IgM were specifically eliminated. Using the hypothesis that the condition is X linked dominant, haplotype analysis of the family suggests that the disease locus is within Xq26-qter. This entity should be considered in the differential diagnosis of families presenting with severe neonatal hypotonia in males and females with symptoms suggestive of complex hereditary spastic paraplegia.
我们报告了一个患有未确诊的X连锁疾病的家族。祖母、她三个女儿中的两个以及她的一个孙女患有缓慢进展的近端肌无力、反射亢进、膀胱功能不良、静态性夜间视力减退和IgG2缺乏。三位有症状的在世女性的诊断为“遗传性痉挛性截瘫加”。她们已经失去了五个男性孩子，这些孩子在新生儿期死于严重的肌张力减退且出生体重低。各项检查未能得出统一诊断：已明确排除强直性肌营养不良、神经源性肌萎缩相关蛋白病和X连锁高IgM血症。基于该疾病为X连锁显性的假设，对该家族进行单倍型分析表明，疾病基因座位于Xq26 - qter内。对于出现男性严重新生儿肌张力减退以及有提示复杂遗传性痉挛性截瘫症状的女性的家族，在鉴别诊断时应考虑到这种疾病实体。
