Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum

Hyperphosphatasia-mental retardation syndrome is a recently delineated disorder associated with a recognizable facial phenotype and brachytelephalangy. This autosomal recessive condition is caused by homozygous and compound heterozygous missense mutations of PIGV, encoding a member of the GPI-anchor biosynthesis pathway. Here, we report on two further, unrelated patients with developmental delay, elevated serum levels of AP, distinctive facial features, hypoplastic terminal phalanges, anal atresia in one and Hirschsprung disease in the other patient. By sequencing PIGV we detected compound heterozygous mutations c.467G>A and c.1022C>A in Patient 1 and a homozygous mutation c.1022C>A in Patient 2. We reviewed the eight reported cases with proven PIGV mutations and re-defined the phenotypic spectrum associated with PIGV mutations: intellectual disability, the distinct facial gestalt, brachytelephalangy, and hyperphosphatasia are constant features but also anorectal malformations and Hirschsprung disease as well as cleft lip/palate and hearing impairment should be considered as part of the clinical spectrum. Moreover, seizures and muscular hypotonia are frequently associated with PIGV mutations.     

损伤控制理论在脑动静脉畸形治疗中的实践与探讨

目的 探讨损伤控制理论(damage control theory,DCT)在脑动静脉畸形(arteriovenous malformations,AVM)诊断与治疗中的应用意义,以及指导治疗脑AVM的可行性.方法 依据DCT原则,对2007年3月-2009年3月脑AVM患者进行积极治疗,并分析其治疗结果.结果 根据D...     

体表血管瘤和脉管畸形的综合治疗临床观察

目的 观察综合治疗体表血管瘤及脉管畸形的临床疗效.方法 2008年1月-2010年9月,收治体表血管瘤和脉管畸形患者共205例.手术治疗156例,其中单纯手术治疗103例,合并介入治疗9例,硬化剂治疗44例;非于术治疗49例,其中介入治疗1例,硬化剂治疗38例,介入合并硬化剂治疗10例.术后随访6个月～3年.结果 15...     

彩色B超筛查胎儿畸形最佳检查孕期选择的探讨

目的探讨彩色B超筛查胎儿畸形的最佳孕期。方法对经彩色B超检出的79例胎儿畸形病例进行统计分析,总结检出胎儿畸形的孕期规律。结果检出各类型胎儿畸形病例79例,其中孕早期检出率为1.27%;孕中期检出率为83.54%;孕晚期为15.19%。漏误诊共8例,其中孕中期漏误诊2例;孕晚期漏误诊6例。结论孕中期是彩色B超对胎儿畸形检出率最高的阶段。因此孕中期是最佳的孕期选择,并于孕晚期进行复查和动态观察。     

婴儿血管瘤和血管畸形的治疗

婴儿血管瘤（草莓状血管瘤）和血管畸形是婴幼儿常见的血管异常,两种疾病对患儿的健康和美观有很大的影响。婴儿血管瘤具有自然消退的生物学特征,血管畸形则不会自行消退。关于婴儿血管瘤和血管畸形的治疗一直存在争议,有观点认为可以观察不需积极治疗,但有学者认为,应早期积极治疗。概述婴儿血管瘤和血管畸形在治疗与否、治疗时机和治疗方法上的选择。     

脑内海绵状血管瘤的CT及MRI诊断

目的探讨CT及MRI对脑内海绵状血管瘤(cavernous angiomas,CA)的表现和诊断价值。方法收集资料完整经手术病理证实的36例脑内CA患者的CT及MRI资料,重点分析其影像表现特征。结果 CA可位于脑内任何部位,单发病灶多见,周围无或轻度水肿,无占位效应,CT平扫为稍高密度影,钙化占68.7%,增强扫描大都无强化;MRI表现为桑椹状混杂高信号,周围有云絮状低信号环,增强后病灶大都无强化。结论脑内海绵状血管瘤的MRI表现有特异性,MRI对脑实质内CA的检出率优于CT,特别是MRI的T2WI像有助于明确诊断。     

Unilateral pulmonary artery stenosis and late-onset cataract in an adult: a case of suspected congenital rubella syndrome

Congenital rubella syndrome is characterized by the triad of deafness, cataract and cardiovascular malformations. The great majority of the cases in the literature have been usually diagnosed in infancy and childhood because of various defects at birth. However, we report a rare case of suspected congenital rubella syndrome in an adult with unilateral pulmonary artery stenosis and late-onset cataract.

     

颅内海绵状血管瘤的外科治疗

目的 总结颅内海绵状血管瘤(CMs)的临床特点、影像学特征和治疗原则,为颅内CMs的临床诊治提供依据.方法 对2005年9月至2011年9月西京医院、海军总医院显微手术切除的127例颅内CMs的临床资料进行回顾性分析.结果 本组127例,男63例、女64例,年龄5～68岁.颅内病灶共139个,其中脑内病灶133个(幕上103个,幕下30个),脑外病灶6个,均位于左侧海绵窦.癫痫是最常见临床症状(58/127),其他症状包括头痛、脑神经功能障碍等.脑内CMs的典型MRI特征为“桑葚”样团块影,而脑外CMs的MRI特征与脑内CMs不同.所有病例均手术治疗,5例巨大病变有少部分残留,其余病灶均全切;1例遗留有轻偏瘫,生活可自理;有癫痫症状的58例患者中,4例术后仍需口服抗癫痫药物治疗,偶有癫痫发作,其余患者症状消失.结论 脑内CMs是最常见的颅内CMs类型,主要位于幕上,手术治疗能取得良好疗效,是首选治疗方法.脑外CMs少见,主要位于海绵窦区,手术和放疗均有良好的效果.     

Detection of cerebral artery fenestrations by computed tomography angiography

Background and purposeCerebral artery fenestrations (CAF) are rare congenital variations usually diagnosed by digital subtraction angiography (DSA). The aim of this study was to examine the frequency of occurrence of fenestrations in cerebral arteries and their coexistence with cerebral aneurysms in computed tomography angiography (CTA).Material and methodsAll reports of cerebral CTA (1140) performed in one institution from March 2005 to December 2007 were analysed. We found 40 patients with single fenestrations of the intracranial arteries. All 40 examinations were retrospectively reviewed for location of vascular malformations and presence of aneurysms or subarachnoid haemorrhage (SAH). Medical histories of those patients were then analysed for evidence of SAH and referral reasons for CTA.ResultsForty fenestrated arteries were found in CTA: 18 basilar arteries (45%), 16 anterior cerebral arteries (40%), 4 anterior communicating arteries (10%) and one middle cerebral artery (2.5%). Only one vertebral artery fenestration was found due to the technique of the examination. Six patients (15%) with fenestrated arteries had a total of 8 aneurysms, although only one aneurysm was ipsilateral to the fenestration. In 8 cases of SAH, two were with no evidence of vascular malformation. The coexistence of CAF and aneurysms in CTA amounted to 15% (6/40), but the incidence of ipsilateral aneurysm was only 2.5% (1/40) and it affected the anterior cerebral artery.ConclusionsBasilar artery fenestration is the most frequent observed fenestration in CTA, followed by anterior cerebral artery and anterior communicating artery fenestrations. Coexistence of fenestration and aneurysm is uncommon in CTA examination.     

基底节区小型动静脉畸形出血的手术治疗

目的探讨基底节区小型动静脉畸形出血并脑内血肿病人的手术治疗问题。方法 32例CT示基底节区脑出血患者术中均行血肿清除和血管畸形切除。结果术后对切除的可疑畸形血管行病理切片检查,均证实为脑动静脉畸形。术后MRI及MRA检查均未见脑血管畸形。术后3个月随访ADL分级,Ⅰ级完全恢复日常生活7例;Ⅱ级部分恢复或可独立生活17例;Ⅲ级需他人帮助,扶拐可行8例;无卧床,植物生存病人;无术后再出血患者。结论基底节区小型动静脉畸形出血并脑内血肿病人行血肿清除和畸形血管切除可减少再出血发生,取得了较好预后。