Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the Vascular Phenotype
Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the Vascular Phenotype
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DOI：
10.1002/ajmg.a.33252
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发表时间：
2010-04-01
影响因子：
2
通讯作者：
Steinberg, Gary K.
中科院分区：
文献类型：
--
作者：
Bober, Michael B.;Khan, Nadia;Steinberg, Gary K.
Mauriski骨发育不良性原始侏儒症II型（MOPD II）是一种罕见的常染色体隐性遗传疾病。特征包括重度宫内发育迟缓（IUGR）、出生后生长不良（成人身高约100 cm）、重度小头畸形、骨骼发育不良、特征性面部特征和正常或接近正常的智力。创建了机构审查委员会（IRB）批准的登记研究，目前随访了25例诊断为MOPD II的患者。根据以前的研究，实施了神经血管筛查计划，发现这些患者中有13例（52%）患有脑神经血管异常，包括烟雾病血管病和/或颅内动脉瘤。典型的烟雾病发病机制始于颈内动脉床突上、大脑前（A1）或大脑中（M1）动脉段的血管狭窄。狭窄最初可能在一侧占主导地位，发展为双侧狭窄，随后血管闭塞和侧支形成。我们提出了四个病人，在神经血管筛查，被发现有脑血管病变。两个是无症状的，一个表现为与动脉瘤破裂相关的严重头痛和喷射性呕吐，一个表现为认知功能明显下降。对登记的分析表明，在MOPD II诊断时，至少每12-18个月使用MRA或计算机断层扫描血管造影（CTA）进行一次烟雾病筛查。我们认为这是当务之急。如果诊断足够早，熟练的手可以安全地进行血运重建和动脉瘤治疗，并预防或尽量减少该人群的长期后遗症。当出现其他神经系统或心脏症状时，也需要紧急评估。(C)2010 Wiley-Liss，Inc.
Majewski Osteodysplastic Primordial Dwarfism, Type II (MOPD II) is a rare, autosomal recessive disorder. Features include severe intrauterine growth retardation (IUGR), poor postnatal growth (adult stature approximately 100 cm), severe microcephaly, skeletal dysplasia, characteristic facial features, and normal or near normal intelligence. An Institutional Review Board (IRB) approved registry was created and currently follows 25 patients with a diagnosis of MOPD II. Based on previous studies, a neurovascular screening program was implemented and 13 (52%) of these patients have been found to have cerebral neurovascular abnormalities including moyamoya angiopathy and/or intracranial aneurysms. The typical moyamoya pathogenesis begins with vessel narrowing in the supraclinoid internal carotid artery, anterior cerebral (A1) or middle cerebral (M1) artery segments. The narrowing may predominate initially on one side, progresses to bilateral stenosis, with subsequent occlusion of the vessels and collateral formation. We present four patients who, on neurovascular screening, were found to have cerebrovascular changes. Two were asymptomatic, one presented with a severe headache and projectile vomiting related to a ruptured aneurysm, and one presented after an apparent decline in cognitive functioning. Analysis of the registry suggests screening for moyamoya disease be performed at the time of MOPD II diagnosis and at least every 12-18 months using MRA or computerized tomographic angiography (CTA). We believe this is imperative. If diagnosed early enough, re-vascularization and aneurysm treatment in skilled hands can be performed safely and prevent or minimize long-term sequelae in this population. Emergent evaluation is also needed when other neurologic or cardiac symptoms are present. (C) 2010 Wiley-Liss, Inc.