CASE REPORT Klippel–Trenaunay syndrome with hemimegalencephaly, retro- peritoneal lymphangioma and double inferior vena cava 1 S VURUCU, MD, 2 B BATTAL, MD, 2 M KOCAOGLU, MD and 1 R AKIN, MD Departments of 1 Pediatric Neurology and 2 Radiology, Gulhane Military Medical School, Ankara, Turkey ABSTRACT. Klippel–Trenaunay syndrome (KTS) is a rare disorder characterised by congenital vascular hamartomas, limb hypertrophy, lymphangiomas and atresia of lymph vessels with non-pitting oedema. A 6-year-old girl with KTS was referred to our hospital for evaluation of intractable seizures. In addition to findings consistent with KTS, we also found hemimegalencephaly, retroperitoneal lymphangioma and double inferior vena cava. All of these associations in the same patient with KTS are unique in the English literature. We report on the multidedector CT and MRI features of such an unusual case. Received 18 February 2008 Revised 15 April 2008 Accepted 20 May 2008 DOI: 10.1259/bjr/36297676 ’ 2009 The British Institute of Radiology Klippel–Trenaunay syndrome (KTS) comprises a spe- cific subset of venous capillary vascular malformations involving cavernous venous lesions, port wine staining, peripheral venous anomalies and limb hypertrophy [1]. Klippel and Trenaunay first described this syndrome. Parkes–Weber independently described three patients with a similar presentation in addition to arteriovenous malformation (AVM) in the affected extremity. Although the four components of the syndrome are often lumped together into Klippel–Trenaunay–Weber syndrome, many authors support distinguishing the Parkes–Weber syn- drome (PWS) from KTS because the AVMs found in PWS result in greater clinical morbidity [2]. In this case, a 6- year-old girl with KTS in association with hemimegalen- cephaly, retroperitoneal lymphangioma and double infer- ior vena cava (IVC) is being discussed. To the best of our knowledge, only one case of KTS and double IVC has been detected incidentally during surgery [3]. However, the multidedector CT (MDCT) findings of KTS in association with double IVC have not been reported before. Case report A 6-year-old girl with KTS was referred to our paediatric department for the evaluation of intractable seizures. The delivery records and family history were unremarkable. There was an extensive macular vascular nevus extending from the left lumbar region to the left gluteal region. The left lower extremity was thicker and 2 cm longer than the right lower one, and her gait was impaired. Neurological examination showed mental and articulation dysfunction. Blood chemistry was normal. Electroencephalography showed evidence of seizure activity in the left temporo- parietal region. Ultrasonographic examination of the abdomen showed mild dilatation in the right renal pelvis, a cystic mass adjacent to the right kidney and an extra vessel left of the aorta. An intravenous contrast-enhanced MDCT scan of the abdomen showed enlargement of the left kidney, a non-enhancing well-defined low-density mass consistent with lymphangioma medial to the right kidney, and vascular venous malformations in the left abdominal wall. Bilateral internal and external iliac veins were forming right and left IVC. The left IVC was conjoining to the left renal vein and then it was crossing anterior to the aorta in the normal fashion to join the right IVC (Figure 1). MRI of the left lower extremity showed subcutaneous varicose venous malformations (Figure 2). MRI of the brain showed hypertrophy of the left hemi- sphere, agyria–pachygyria complexes in the left occipito- parietal region, mild left lateral ventriculomegaly and dysgenesis of the corpus callosum (Figure 3). In the light of clinical and radiological findings, we diagnosed KTS associated with hemimegalencephaly, retroperitoneal lymphangioma and double IVC. The diagnosis of lymphangioma was made by the appear- ance of a well-defined cystic lesion without contrast enhancement on CT examination and with no size and structural changes for about 3 years. Discussion In 1900, Klippel and Trenaunay described a rare congenital disorder having abnormalities in the mesoder- mal components, which was characterised clinically by (a) a capillary malformation, usually a port wine stain over the affected extremity or at a site other than the hypertrophied limb, (b) soft-tissue or bony hypertrophy or both, or (c) varicose veins or venous malformation, sometimes with persistent lateral embryonic veins [4]. Any two features are required for the diagnosis of KTS [5]. Our patient had progressive hypertrophy of the left lower extremity, left side of the body and head. Macular vascular nevus extending from the left lumbar region to the left Address correspondence to: Murat Kocaoglu, Department of Radiology, Gulhane Military Medical School, 06018 Etlik, Ankara, Turkey. E-mail: [email protected]; [email protected] The British Journal of Radiology, 82 (2009), e102–e104 e102 The British Journal of Radiology, May 2009
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