Sturge Weber Syndrome Type I 'Plus': A Case Report

C. Hobson; H. Foyaca-Sibat; B. Hobson; L de F Ibanez-Valdes

摘要

We present a patient with bilateral head, neck, thorax, and limbs port-wine nevus, glaucoma, epilepsy, mental retardation, short stature and abnormalities of the intracranial occipital deep veins and venous anomalies of the posterior fossa in a rural setting of the Eastern Cape, South Africa. Introduction Sturge-Weber Syndrome (SWS) or also called encephalotrigeminal angiomatosis is a congenital, non-familial disorder of unknown incidence and cause, which is characterized by a congenital port-wine nevus (facial birthmark) leptomenigeal angiomatosis, and glaucoma; it is commonly complicated by epilepsy and hemiparesis. Other symptoms associated with SWS can include eye and internal organ irregularities. Each case of SWS is unique and exhibits the characterizing findings to varying degrees. The most apparent indication of SWS is a facial birthmark or “Port Wine Stain” (PWS) present at birth and typically involving at least one upper eyelid and the forehead. Much variation in the size of the stain has been reported and may be limited to one side of the face or may involve both sides. The stain, varying from light pink to deep purple, is due to an overabundance of capillaries just beneath the surface of the involved skin. In persons with dark pigmentation, the stain may be difficult to recognize. In rare instances, there is an absence of a PWS. Atypical presentations such as: intracranial venous anomalies, soft tissue hypertrophy, phakomatosis pigmentovascularis, overlapped Klippel-Trenaunay syndrome (cutaneous hemangiomas, venous varicosities and soft tissue or bone hypertrophy of the affected extremities), headache and epilepsy, and an acute life-threatening event have been reported to the medical literature1,2,3,4,5,6,7,8 SWS is referred to as complete when both CNS and facial angiomas are present and incomplete when only one area is affected without the other. The Roach Scale is used for classification, as follows: Type I: This is the most common presentation with facial and leptomeningeal angiomas. Glaucoma may be present. Ocular involvement is normally noted within the first year of life. The sclera may appear “bloodshot” as a result of the over-proliferation of blood vessels on the eye. In rare cases, the facial and brain involvement are bilateral (involving both sides of the head). Mental and physical development can be impaired to varying degrees, depending on the degree of vascular malformation throughout the brain and eye. Type 2: This type involves a facial angioma and the possibility of glaucoma, but no evidence of intracranial disease. There is no specific time-frame for the exhibition of symptoms beyond the initial recognition of the facial PWS. Throughout the life of the individual, interrelated symptoms may manifest in glaucoma, cerebral blood flow abnormalities, headaches, and various other complications. Additional research needs to be conducted on this type of SWS to determine the course of the syndrome over its natural progression. Type 3: This type of SWS is commonly noted to have a leptomeningeal angioma, with no facial involvement and usually no development of glaucoma. Commonly referred to as forme fruste, this type is identified with brain scans. It can also be confused with other diagnoses prior to a brain scan with contrasting agent. While social stigma is lessened by the absence of PWS, the unknown natural course of the syndrome is still frustrating for parents and professionals treating the condition. The main objective of this article is to report a case presenting clinical features of SWS type I with associated venous anomalies in the posterior fossa, being an uncommon association not previously reported. Case Report A 14-year old female admitted at Nelson Mandela Academic Hospital (Mthatha), South Africa, presenting a history of well-controlled epilepsy on long-term phenytoin treatment, mental retardation which necessitates primary level institutionalized care, and a bilaterally swollen red face an

机译：我们介绍了东部东部农村地区双侧头，颈，胸和四肢酒葡萄痣，青光眼，癫痫病，智力低下，身材矮小以及颅内枕深静脉和后颅窝静脉异常的患者南非开普省。简介Sturge-Weber综合征（SWS）或也被称为脑原发性血管瘤病，是一种先天性非家族性疾病，发病率和病因不明，其特征是先天性猪葡萄膜痣（面部胎记），睑板膜血管瘤和青光眼。它通常并发癫痫和偏瘫。与SWS相关的其他症状可能包括眼睛和内脏器官异常。 SWS的每种情况都是独特的，并在不同程度上展现出特征性发现。 SWS的最明显迹象是在出生时出现面部胎记或“ Port Wine Stain”（PWS），通常涉及至少一个上眼睑和前额。据报道，污渍的大小有很大的变化，并且可能仅限于面部的一侧或两侧。该污渍从浅粉红色到深紫色不等，是由于受累皮肤表面下方的毛细血管过多所致。在色素沉着较深的人中，色斑可能难以识别。在极少数情况下，没有PWS。非典型表现，例如：颅内静脉异常，软组织肥大，色素性血管瘤，重叠的Klippel-Trenaunay综合征（皮肤血管瘤，静脉曲张和软组织或患肢的骨肥大），头痛和癫痫病以及危及生命的急性事件已有医学文献报道1,2,3,4,5,6,7,8当中枢神经系统和面部血管瘤同时存在时，SWS被认为是完全的，而仅一个区域受到影响而另一区域则不完整。 Roach量表用于分类，如下所示：I型：这是面部和软脑膜血管瘤的最常见表现。青光眼可能存在。通常会在生命的第一年内注意到眼部受累。巩膜可能会由于眼睛血管过度增生而出现“充血”。在极少数情况下，面部和大脑受累是双侧的（涉及头部的两侧）。取决于整个大脑和眼睛的血管畸形程度，精神和身体发育可能受到不同程度的损害。类型2：此类型涉及面部血管瘤和青光眼的可能性，但没有颅内疾病的证据。除了面部PWS的最初识别之外，没有具体的时间来显示症状。在整个人的一生中，相互关联的症状可能表现为青光眼，脑血流异常，头痛和其他各种并发症。需要对该类型的SWS进行其他研究，以确定综合症在其自然发展过程中的进程。类型3：这种类型的SWS通常被发现患有软脑膜血管瘤，没有面部受累，通常也没有青光眼的发展。通常称为印版硬壳，这种类型是通过脑部扫描来识别的。在使用造影剂进行脑部扫描之前，也可能将其与其他诊断混淆。尽管缺乏PWS减轻了社会污名，但该综合征未知的自然病程仍令治疗该病的父母和专业人员感到沮丧。本文的主要目的是报告一例呈现SWS I型临床特征并伴有后颅窝静脉异常的病例，这是以前未曾报道的罕见病。病例报告一名14岁的女性在南非纳尔逊·曼德拉学术医院（Mthatha）住院，表现出长期接受苯妥英治疗的癫痫病控制良好，需要进行初级机构护理的智力低下以及双侧红肿的历史。面对

Sturge Weber Syndrome Type I 'Plus': A Case Report

摘要

著录项

相似文献

相关主题

期刊订阅