X-LINKED HYDROCEPHALUS - A SURVEY OF A 20-YEAR PERIOD IN VICTORIA, AUSTRALIA
X-LINKED HYDROCEPHALUS - A SURVEY OF A 20-YEAR PERIOD IN VICTORIA, AUSTRALIA
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DOI：
10.1136/jmg.23.1.23
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发表时间：
1986-02-01
影响因子：
4
通讯作者：
DANKS, DM
中科院分区：
文献类型：
--
作者：
HALLIDAY, J;CHOW, CW;DANKS, DM
本研究从1962年至1982年在澳大利亚维多利亚州的活体或死产患者中确定了164例男性非交通性脑积水，排除了除导水管狭窄以外继发于脑畸形的病例。人们认为确定工作接近完成，特别是自1974年以来，但有一半病例的导水管病理细节不够详细。共有91个家庭被看到记录了详细的家庭信息。原发性非交通性脑积水的总发生率估计为0.6。+-。每1000例活产和死产中有0.2例，其中五分之三的病例是男性。12名患者被归类为明确的X连锁脑积水，另外13名患者被归类为可能的病例。大拇指畸形(一般为内收畸形)出现在这些病例中的近一半。只要有，在延髓的某些部分就没有金字塔。5名幸存者中有4名有锥体束损害的迹象，相比之下，25名存活的非X-连锁病例中有4名。在与X相关的案例中，智力结果明显较差。在19例X连锁病例的母亲中也有5例表现不佳，但在其余病例的母亲中只有1例表现不佳。整个患者组的家族性复发几乎局限于X连锁家系。常染色体隐性遗传的两个家系是例外。在遗传咨询中记住X连锁脑积水是很重要的。检查拇指，寻找锥体束病变的临床迹象，以及在髓质切片中对金字塔进行解剖检查，以及仔细询问受影响的母亲亲属的病史，都是重要的。任何这些特征的出现都是在X连锁遗传的基础上进行咨询的依据。在对一名患有非交通性脑积水的男性进行咨询时，我们得出了一个经验数字，该患者没有足够的拇指或金字塔信息：男性同胞复发风险为4%，女性为2%。
This study ascertained 164 males with non-communicating hydrocephalus in live or stillborn patients in Victoria, Australia in 1962 to 1982, after excluding those cases secondary to brain malformation other than aqueduct stenosis. Ascertainment was considered near complete, especially for the period since 1974, but details of the aqueduct pathology were inadequate in half the cases. A total of 91 families was seen to record detailed family information. The overall incidence of primary non-communicating hydrocephalus was estimated to be 0.6 .+-. 0.2 per 1000 live, and stillbirths, with three-fifths of the cases male. Twelve patients were classified as having definite X linked hydrocephalus and 13 others as probable cases of this condition. Deformities of the thumbs (generally adduction deformity) were present in nearly half of these cases. The pyramids were absent from sections of the medulla whenever these were available. Four of five survivors had signs suggesting pyramidal tract lesions, compared to four of 25 surviving non-X linked cases. The intellectual outcome was notably poorer in the X linked cases. Poor school performance was also described in five of 19 mothers of X linked cases but in only one in 64 mothers of the remaining cases. Familial recurrence in the whole group of patients was almost confined to the X linked families. The exceptions were two families in whom autosomal recessive inheritance is possible. It is important to remember X linked hydrocephalus in genetic counseling. Examination of the thumbs, search for clinical signs of pyramidal tract lesions, and anatomical examination of the pyramids in medullary sections are all important, along with careful questioning for a history of affected maternal relatives. The presence of any of these features is grounds for counselling on the basis of X linked inheritance. An empirical figure was derived to use when counselling about a male with non-communicating hydrocephalus in whom there is no adequate information about the thumbs or the pyramids: a 4% recurrence risk in male sibs and 2% in females.