VONRECKLINGHAUSEN NEUROFIBROMATOSIS - A CLINICAL AND POPULATION STUDY IN SOUTHEAST WALES
VONRECKLINGHAUSEN NEUROFIBROMATOSIS - A CLINICAL AND POPULATION STUDY IN SOUTHEAST WALES
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DOI：
10.1093/brain/111.6.1355
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发表时间：
1988-12-01
期刊：
影响因子：
14.5
通讯作者：
COMPSTON, DAS
中科院分区：
文献类型：
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作者：
HUSON, SM;HARPER, PS;COMPSTON, DAS
在威尔士东南部（人口668，100）进行的一项基于人群的研究确定了135例von Recklinghausen神经纤维瘤病患者（患病率20/105）。除了多发性雀斑和/或真皮神经纤维瘤外，雀斑还存在于腋窝（67%）、腹股沟（44%）和乳房下区域（29%的成年女性）。虽然不是诊断标准。Lisch结节几乎总是存在于虹膜中（93%的患者; 96%的年龄≥ 10岁的患者）。20岁）。雷克林豪森神经纤维瘤病的并发症（n = 135，除非另有说明）为丛状神经纤维瘤（40/125）、重度精神发育迟滞（1）、癫痫（6）、视神经胶质瘤（2）、脊神经纤维瘤（2）、导水管狭窄（2）、脑膜血管瘤病（1）、需要手术的脊柱侧凸（6），假关节3例，青春期延迟2例，内脏及内分泌肿瘤1例，先天性青光眼1例。无听神经瘤病例。考虑到所有年龄≥.的在世家庭成员。18岁及亲属发病率下降，与本病有关的中枢神经系统及恶性肿瘤的发生率为4.4- 5.2%。单纯性冯雷克林豪斯神经纤维瘤病是毁容，但不是一个主要原因的发病率。这种疾病的管理涉及其并发症，这些并发症可分为三类，即发生于儿童期并导致终身发病的并发症（中度至重度精神障碍、面部丛状神经纤维瘤、矫形）、可在任何时候发生但“可治疗”的并发症（良性神经系统疾病、内脏和内分泌肿瘤、肾动脉狭窄）以及恶性或中枢神经系统肿瘤。根据这项调查，每个类别的合并频率分别为12%、16%和4.4- 5.2%。
A population-based study in south-east Wales (population 668,100) identified 135 patients with von Recklinghausen neurofibromatosis (prevalence 20/105). In addition to multiple cafe-au-lait spots and/or dermal neurofibromas, freckling was present in the axilla (67%), groin (44%) of submammary areas (29% of adult females). Although not a criterion for diagnosis. Lisch nodules were almost invariably present in the iris (93% of patients overall; 96% of those aged .gtoreq. 20 yrs). The complications of vo Recklinghausen neurofibromatosis in this cohort (n = 135 unless stated) were plexiform neurofibromas (40/125), severe mental retardation (1), epilepsy (6), optic glioma (2), spinal neurofibroma (2), aqueduct stenosis (2), meningioangiomatosis (1), scoliosus requiring surgery (6), pseudoarthrosis (3) delayed puberty (2) visceral and endocrine tumor and congenital glaucoma (1). There were no cases of acoustic neuroma. Considering all living family members aged .gtoreq. 18 yrs, together with their decreased relatives, the frequently of CNS and malignant tumours related to the disease was 4.4-5.2%. Uncomplicated von Recklinghause neurofibromatosis is disfiguring but not a major cause of morbidity. The management of the disease relates to its complications which can be divided into three categories, those which occur in childhood and cause lifelong morbidity (moderate-severe mental handicap, facial plexiform neurofibromas, orthopaedic), those which can occur at any time but are ''treatable'' (benign disorders of the nervous system, visceral and endocrine tumours, renal artery stenosis), and malignant or CNS tumours. The combined frequency for each category based on this survey was 12%, 16% and 4.4-5.2%, respectively.