La tunisie Medicale - 2014 ; Vol 92 ( n°02 ) : 173-174
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Article
Sturge-Weber Syndrome (SWS) is a sporadic condition of mesodermal phakomatosis characterized by a port-wine vascular nevus of the upper part of the face, leptomeneingeal angiomatosis that involves one of both hemispheres, choroidal vascular lesions associated with glaucoma, seizures, neurological deterioration, and eventual neurodevelopmental delay [1]. Klippel-Trenaunay syndrome (KTS), also a mesodermal phakomatosis, is defined by the triad: port-wine stain, hypertrophy of bone and soft tissue, and varicose veins or venous malformations [2]. Commonly, the diagnosis of KTS can be made when any two of the triad of features is present. It is usually unilateral and almost exclusively involves lower extremities. It is rarely bilateral and involves upper extremities. Overlap between SWS and KTS is recognized, and over 40 cases of combined KTS and SWS have been described in the literature [3]. Klippel-Trenaunay-Weber syndrome involves 1 or more extremities and is characterized by a complex of capillary malformations, cutaneous vascular nevi, soft-tissue or bony hypertrophy, and varicose veins or venous malformations [4,5]. The disease is commonly sporadic [6]. This report presented a rare case of the Sturge-Weber syndrome in combination with the Klippel-Trennaunay syndrome in a 4 - month-old infant.

Figure 2 : a: Axial CT image shows calcification of the right frontal cortex (black arrow).
b: Axial SE T1 image shows normal brain parenchyma.
c: Post contrast axial SE T1 image shows the “pial angioma” identified by the presence of bilateral fronto-parietal enhancement that seems to fill the
subarachnoid space, covering the surfaces of the gyri and filling the cortical sulci (arrowheads).
d: Axial SE T1 image shows normal brain parenchyma but enlarged choroid plexus (arrows).
e: Post contrast axial SE T1 image shows marked enhancement of the right choroid plexus (arrowhead).
f: Post contrast sagittal SE T1 image shows the pial enhancement at the medullary surface (black arrow).


Case Report

A 4 month- old male infant with a history of a right congenital glaucoma was presented with left hemi convulsion. His physical examination showed nevus flammeus diffusely involving both sides of his face and extending to his right arm, wrist and leg. His right upper and lower limbs showed a relative soft tissue hypertrophy (Figure 1).
Figure 1 : Bilateral facial nevus flammeus. The right upper limb shows a soft tissue hypertrophy and nevus flammeus.


There was no difference in length of both upper limbs. But the circumference of his right thigh was 26 cm and that of his left thigh was 22 cm. The haematological, biochemical, and urinary laboratory tests and the chest and skull radiography were normal. Abdominal ultrasonography showed no pathological findings of the visceral organs. On plainradiography we detected soft tissue hypertrophy, and in colour Doppler imaging no arterio venous fistula was detected. Cranial computed tomography scan showed calcification of the right frontal cortex. MRI showed normal brain parenchyma but enlarged right choroid plexus (Figure 2). A diagnosis of Overlap between SWS and KTS was made on the basis (according to association) of port-wine vascular nevus, hypertrophy of bone, leptomeningeal angiomatosis that involves the right hemisphere, and choroidal vascular lesions. Treatment with anticonvulsant was begun, but hemi seizures recurred several times. His electroencephalography revealed depression ofbackground activity and polyphasic spikes and waves activity in the right side. The patient died at the age of 7 months secondary to a refractory status epilepticus.

Conclusion


Klippel-Trenaunay-Weber syndrome is a rare vascular syndrome sometimes associated with neurologic pathologies. In our case evolution was rapidly fatal secondary to a refractory status epilepticus.
Références
  1. Garzon MC, Huang JT, Enjolras O, et al. Vascular malformations Part II: associated syndromes. J Am Acad Dermatol. 2007 ; 56:541-64.
  2. Samimi M, Lorette G. Klippel-Trenaunay syndrome Presse Med. 2010 ; 39:487-94.
  3. Chhajed M, Pandit S, Dhawan N et al. Klippel-Trenaunay and Sturge- Weber overlap syndrome with phakomatosis pigmentovascularis. J Pediatr Neurosci. 2010; 5:138-40.
  4. Vissers W, Van Steensel M, Steijlen P, et al. Klippel-Trenaunay syndrome and Sturge-Weber syndrome: variations on a theme? Eur J Dermatol 2003;13: 238-41
  5. Aggarwal K, Jain VK, Gupta S, et al. Klippel-Trenaunay syndrome with a life-threatening thromboembolic event. J Dermatol. 2003; 30: 236- 40.
  6. Tian XL, Kadaba R, You SA, et al. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature 2004; 427:640- 4
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