==== Front Ann Saudi MedAnn Saudi MedAnnals of Saudi Medicine0256-49470975-4466King Faisal Specialist Hospital and Research Centre 10.5144/0256-4947.2008.150asm-2-150What's Your Diagnosis?Diagnosis: An atypical case of Sturge-Weber syndrome with bilateral facial hemangioma, bilateral intracranial calcification, and megalocornea Ozlem Hergüner Faruk Incecik M. Ozcan Kenan Altunbasak Sakir From the Department of Pediatric Neurology, Çukurova University Medical Faculty, Adana, TurkeyCorrespondence and reprints: Faruk Incecik, MD, Department of Pediatric Neurology, Çukurova University Medical Faculty, Balcah, Adana, 01330, Turkey, T: +90-322-338-6936, F: +90-322-338-6936, fincecik@yahoo.comMar-Apr 2008 28 2 150 151 01 5 2007 Copyright © 2008, Annals of Saudi Medicine2008This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. ==== Body Sturge-Weber syndrome or encephalofacial angiomatosis syndrome is a congenital and progressive disorder characterized by a port-wine stain in the area innervated by the first sensory branch of the trigeminal nerve, generalized or contralateral focal seizures as well as hemiplegia, homonymous hemianopsia, ipsilateral intracerebral calcifications, and mental retardation. 1 Even though familial cases have been reported, it has not been proved that it is hereditary. Although clasically, Sturge-Weber syndrome consist of unilateral facial nevus and ipsilateral intracerebral calcifications radiologically, atypical variants have been reported.2–4 DISCUSSION Classically, the diagnosis of Sturge-Weber syndrome is based on clinical and radiological findings.1,2 Unilateral facial nevus, and/or contralateral neurological deficits and seizures are among the clinical findings. In approximately 85% of cases, the blue-red colored nevus on the face is unilateral and always involves the upper part of the face and the eyelids. In the literature, Sturge-Weber syndrome cases without facial nevus have been reported, 2,3 and cases with bilateral cutaneous involvement have been described.5 Bilateral facial angioma is seen in the literature, and its incidence has been determined as 15% of Sturge-Weber.5 Lindsey et al6 reported a case with bilateral facial and choroidal angioma. Bilateral choroidal angioma was reported as 15% among cases of Sturge-Weber syndrome in the study of Bebin et al,7 and 25% in the study by Vilela.8 We detected both bilateral facial and choroidal angioma in our patient. Choroidal angioma, buphthalmus, and glaucoma may be seen in the eye on the same side with facial angioma. Furthermore, megalocornea is very rarely detected in cases with Sturge-Weber syndrome.9 Interestingly, we detected megalocornea in the left eye of our case without other ophthalmic anomalies. In cases with Sturge-Weber syndrome, neurological symptoms develop in months or years following birth. Seizures, which are generally the most frequently seen neurological finding, start before the age of 1 year. Generalized tonic-clonic seizures are the seizure type often seen in children. Infantile spasms, myoclonic and atonic seizures are among the less frequently seen seizures. 1,10 In our case, focal seizures starting at the age of 2 months and probably secondary generalized seizures were observed later. Hemiparesis contralateral to the brain lesion may develop. Apart from this, mental retardation or learning difficulty may be seen. In our patient, even though there was no motor deficit, she was predominantly mentally and motor retarded in comparison with peers. Sturge-Weber syndrome is diagnosed relatively easily by clinical and radiological findings. Intracerebral calcifications may be demonstrated by neuroimaging. In the cerebral CT, cortical calcifications are seen as a linear parallel “railroad-track” like configuration predominantly in the occipital and parieto-occipital regions. In our case, we saw calcifications predominantly in the bilateral frontal regions and extending to the bilateral temporo-parieto-occipital regions. Based on seizures, neurological deficits, and radiological findings, the diagnosis of Sturge-Weber syndrome has been made in patients who have no facial nevus.3,11 In the cerebral CT, there are intracranial calcifications, enlargement in the choroidal plexus, and focal atrophy in the brain. The diagnosis of Sturge-Weber syndrome in our patient with a bilateral facial nevus who had typical clinical findings was made by radiological demonstration. In general, the most characteristic feature of Sturge-Weber syndrome is the presence of both ipsilateral facial nevus and intracranial calcifications. However, different variants of this syndrome have recently been reported in the literature. We thought that our case was interesting in having both bilateral facial nevus and intracranial calcifications and megalocornea without other ophthalmological abnormalities. Furthermore, we can suggest that the number of these variants will increase in the future and this may help in the delineation of underlying probable genetic defects and in creating new treatment modalities in Sturge-Weber syndrome. ==== Refs REFERENCES 1 Roach ES Neurocutaneous syndromes Pediatr Clin North Am 1992 39 591 620 2 Liang CW Liang KH Sturge-Weber syndrome without facial nevus China Med J 1992 105 964 65 3 Aydin A Çakmakçi H Kovanlikaya A Dirik E Sturge-Weber syndrome without facial nevus Pediatr Neurol 2000 22 400 2 10913734 4 Yallapragada AV Cure JK Holden KR Sturgeweber syndrome variant with atypical intracranial findings: case report J Child Neurol 2006 21 155 7 16566882 5 Sujansky E Conradi S Sturge-Weber syndrome: Age of onset of seizures and glaucoma and the prognosis for affected children J Child Neurology 1995 10 49 58 6 Lindsey PS Shields JA Goldberg RE Augsburger JJ Frank PE Bilateral choroidal hemangiomas and facial nevus flammeus Retina 1981 1 88 95 6891096 7 Bebin EM Gomez MR Prognosis in Sturge-Weber disease: Comparison of unihemispheric and bihemispheric involvement J Child Neurol 1988 3 181 4 3209844 8 Vilela PF Sturge-Weber syndrome revisited. Evaluation of encephalic morphological changes with computerized tomography and magnetic resonance Acta Med Port 2003 6 141 8 9 Ceyhan A Cakan T Basar H Bababalim M Unal N Anaesthesia for Sturge-Weber syndrome Eur J Anaesthesiol 1999 16 339 41 10390670 10 Dilber C Tasdemir HA Dagdemir A Incesu L Odaci E Sturge-Weber syndrome involved frontoparietal region without facial nevus Pediatr Neurol 2002 26 387 90 12057801 11 Pascual-Castroviejo I Pascual-Pascual SI Viano J Martinez V Coya J Sturge-Weber syndrome without facial nevus Neuropediatrics 1995 26 220 2 8544964