Neuroradiologic Findings in a Young Patient With Characteristics of Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome

Abstract

The patient presented here has extensive hemangiomata plana, especially on the right forehead, right upper eyelid, and right leg, as well as right leg hypertrophy and macrocephaly. Cerebral magnetic resonance imaging (MRI) showed abnormalities in only one occipital lobe consisting of focal cortical atrophy, leptomeningeal enhancement, and ipsilateral choroid plexus enlargement. Mental and motor development is normal, and he has no seizures. The parents are consanguineous. Leg hypertrophy associated with ipsilateral cutaneous vascular malformations is suggestive of Klippel-Trenaunay syndrome. The patient's central nervous system abnormalities on MRI and the hemangiomata plana on the ipsilateral upper eyelid and forehead point to Sturge-Weber syndrome. We conclude that the patient has an overlap syndrome between Klippel-Trenaunay syndrome and Sturge-Weber syndrome. ( J Child Neurol 2005;20:911—913).

Get full access to this article

View all access options for this article.

References

Sperner J. , Schmauser I. , Bittner R. , et al: MR-imaging findings in children with Sturge-Weber syndrome. Neuropediatrics 1990;21:146—152.

Pascual-Castroviejo I. , Diaz-Gonzalez C. , Garcia-Melian RM , et al: Sturge-Weber syndrome: Study of 40 patients. Pediatr Neurol 1993;9:283—288.

Sujansky E. , Conradi S. : Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 1995;57:35—45.

Griffiths PD : Sturge-Weber syndrome revisted: The role of neuroradiology. Neuropediatrics 1996;27:284—294.

Lindenauer SM : The Klippel-Trenaunay-Weber syndrome: Varicosity, hypertrophy and hemangioma with no arteriovenous fistula. Ann Surg 1965;162:303—314.

Berry SA , Peterson C. , Mize W. , et al: Klippel-Trenaunay syndrome. Am J Med Genet 1998;79:319—326.

Meyer E. : Neurocutaneus syndrome with excessive macro hydrocephalus (Sturge-Weber/Klippel-Trenaunay syndrome). Neuropediatrics 1979;10:67—75.

Deutch J. , Welssenbacher G. , Widholm K. , Barsegar B. : Combination of the syndrome of Sturge-Weber and the syndrome of Klippel-Trenaunay . Klin Paediatr 1976;188:464—471.

Haberland C. , Perou M. : Bone involvement in Sturge-Weber-Dimitri syndrome: Combined Sturge-Weber-Dimitri and Klippel-Trenaunay-Weber syndrome. Confin Neurol 1966;28:413—422.

10.

Pietruschka G. : Zur Symptomatik der Syndrome nach Sturge-Weber and Klippel-Trenaunay. Klin Monatsbl Augenheilkd 1960;137:545—557.

11.

Kiley MA , Oxbury JM , Coley SC : Intracranial hypertension in Sturge-Weber/Klippel-Trenaunay-Weber overlap syndrome due to impairment of cerebral venous outflow. J Clin Neurosci 2002;9:330—333.

12.

Saricaoglu MS , Guven D. , Karakurt A. , et al: An unusual case of Sturge-Weber syndrome in association with phakomatosis pigmentovascularis and Klippel-Trenaunay-Weber syndrome. Retina 2002;22:368—371.

13.

Williams DW , Elster AD : Cranial CT and MR in the Klippel-Trenaunay-Weber syndrome. AJNR Am J Neuroradiol 1992; 13: 291—294.

14.

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—241.

15.

Hanahan D. : Signaling vascular morphogenesis and maintenance. Science 1997;277:48—50.

16.

Aelvoet GE , Jorens PG , Roelen LM : Genetic aspects of the Klippel-Trenaunay syndrome. Br J Dermatol 1992; 126: 603—607.

17.

Happle R.

Klippel-Trenaunay syndrome: Is it a paradominant trait?

Br J Dermatol 1993;128:465—466.

18.

Ceballos-Quintal JM , Pinto-Escalante D. , Castillo-Zapata I. : A new case of Klippel-Trenaunay-Weber (KTW) syndrome: Evidence of autosomal dominant inheritance. Am J Med Genet 1996;63:426—427.

19.

Whelan AJ , Watson MS , Porter FD , Steiner RD : Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation . Am J Med Genet 1995;59:492—494.

20.

Lorda-Sanchez I. , Prieto L. , Rodriguez-Pinilla E. , Martinez-Frias ML : Increased parental age and number of pregnancies in Klippel-Trenaunay-Weber syndrome . Ann Hum Genet 1998;62:235—239.