Dhir Luna, Quinn Anthony G
West of England Eye Unit, Royal Devon & Exeter Hospital, Exeter, United Kingdom.
J AAPOS. 2010 Apr;14(2):190-2. doi: 10.1016/j.jaapos.2009.12.157.
Klippel-Trénaunay-Weber syndrome is characterized by the triad of capillary malformations (usually port-wine stains), varicose veins or venous malformations of unusual distribution, and soft-tissue or bony hypertrophy of an extremity. The syndrome can be diagnosed on the basis of 2 of these 3 features. In the atypical form of the syndrome, capillary malformations may be absent. Recognition is possible during infancy or early childhood, and evaluation and treatment is important to minimize morbidity. We describe the case of an 11-year-old girl who presented with hyphema after a Valsalva maneuver and was found to have persistent fetal vasculature in the affected eye. She had systemic features of Klippel-Trénaunay-Weber syndrome. Magnetic resonance imaging, magnetic resonance angiography, and magnetic resonance venography scans of the brain and orbits were normal. Magnetic resonance imaging scan of the left hypertrophied lower limb revealed venous malformations leading to soft-tissue hypertrophy. To our knowledge, this is the first case of persistent fetal vasculature and hyphema in a patient with Klippel-Trénaunay-Weber syndrome.
克-特-韦综合征的特征为三联征，即毛细血管畸形（通常为葡萄酒色斑）、静脉曲张或分布异常的静脉畸形，以及肢体的软组织或骨质肥大。该综合征可根据这三个特征中的两个进行诊断。在该综合征的非典型形式中，可能不存在毛细血管畸形。在婴儿期或幼儿期即可识别，评估和治疗对于将发病率降至最低很重要。我们描述了一名11岁女孩的病例，她在瓦尔萨尔瓦动作后出现前房积血，并且在患眼中发现有永存原始玻璃体增生症。她具有克-特-韦综合征的全身特征。脑部和眼眶的磁共振成像、磁共振血管造影和磁共振静脉造影扫描均正常。左下肢肥大的磁共振成像扫描显示静脉畸形导致软组织肥大。据我们所知，这是首例克-特-韦综合征患者出现永存原始玻璃体增生症和前房积血的病例。
