Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen
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DOI：
10.1136/jmg.33.3.193
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发表时间：
1996-03-01
影响因子：
4
通讯作者：
Lam, TP
中科院分区：
文献类型：
--
作者：
Cole, WG;Lam, TP
研究了1例I型前胶原α 2（I）前链中甘氨酸1006被丙氨酸杂合取代导致的III型成骨细胞瘤（OI III）患儿的特征。他在足月时出生，具有严重的OI的临床特征，包括深灰蓝色的巩膜。他有严重的骨质减少，所有长骨都比正常人小，伴有皮质变薄、干骺端扩张、干骺端建模不良和多处骨折。然而，椎骨、骨盆和肩带的形状正常，肋骨骨折很少。颅骨和胫骨干的组织学检查显示编织骨，无板层骨或哈弗系统。由于反复骨折，长骨的骨干变宽了。由于双侧慢性硬膜下血肿和大脑外侧裂的大蛛网膜囊肿，颅骨在3至4.5个月大时逐渐增大。囊肿可能是发育性的，而硬膜下积液可能是围产期颅骨创伤的结果。囊肿和硬膜下积液在引流后消失，但随后脑室扩张，脑脊液压力正常。该先证者是第一例报道的I型前胶原pro alpha 2（I）链中甘氨酸被丙氨酸取代的OI病例。
The features of a child with osteogenesis imperfecta type III (OI III) resulting from the heterozygous substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen were studied. He was born at term with the clinical features of severe OI, including deep grey-blue sclerae. He had severe osteopenia and all long bones were smaller than normal with cortical thinning, metaphyseal expansion, poor metaphyseal modelling, and multiple fractures. However, the vertebrae, pelvis, and shoulder girdle were of normal shape and there were few rib fractures. Histological examination of the calvarium and tibial shaft showed woven bone without lamellar bone or Haversian systems. The shafts of the long bones were widened owing to repeated fractures. Progressive enlargement of the calvarium occurred between 3 and 4.5 months of age owing to bilateral chronic subdural haematomata and a large arachnoid cyst in the Sylvian fissure. The cyst was probably developmental in origin while the subdural collections were probably the result of perinatal skull trauma. The cyst and the subdural collections resolved following drainage but ventricular dilatation with normal cerebrospinal fluid pressure followed. The proband is the first reported case of OI with a glycine substitution by alanine in the pro alpha 2(I) chain of type I procollagen.