Sturge-Weber syndrome in a 14-year-old girl without facial naevus.

Abstract

Sturge-Weber syndrome (SWS) is a neuroectodermal disease characterised by facial port-wine naevus, unilateral seizures (usually controlateral to the side of the facial naevus), and mental retardation with accompanying ocular, skeletal or cutaneous abnormalities [6]. A 14-year-old girl was admitted to hospital with partial seizure, secondarily generalised. Her first generalised tonic-clonic seizure had apparently occurred at the age of 1 year. Soon thereafter, she had suffered a febrile, secondary generalised tonic-clonic seizure several times and subsequently, a right hemiparesis had developed. She had been treated with several anti-epileptic drugs. On neurological examination, a right-sided central facial paralysis and right hemiparesis grade 4/5 were noted. No facial naevus was seen. Her ocular examination was normal. Intellectual impairment was apparent (IQ score was 69 according to Stanford Binet). An X-ray film of the skull showed ‘‘railroad calcification in the parieto-occipital region’’. An EEG revealed spike-wave activities over the left parieto-occipital area. A cranial CT scan showed cortical atrophy and gyriform calcification in the left parieto-occipital region (Fig. 1). A T2-weighted axial MRI scan demonstrated left parietooccipital atrophy and a contrast-enhanced scan revealed gyral contrast accumulation in the left parieto-occipital region. She still receives valproate (20 mg/kg per day) and phenytoin (7 mg/kg per day) orally and has been free of seizures for 2 months. SWS is the fourth most frequent neuroectodermal disorder [4]. It is characterised by a facial port-wine naevus and ipsilateral leptomeningeal haemangiomatosis. Encephalofacial angiomatosis has been sub classified into three groups: type I (both facial and leptomeningeal angiomas, glaucoma possible), type II (facial angioma without evidence of intracranial disease) and type III (isolated leptomeningeal angioma) [6]. In our case, facial angioma and glaucoma were not present and, according to this classification, she was considered as having type III. Epileptic seizures and intellectual impairment and glaucoma are common, whereas hemiparesis, hemiatrophy and visual field defects occur less often [4]. Most patients with SWS have normal neurological function for several months or even years after birth. Epileptic seizures and hemiparesis are often noted in conjunction with a febrile illness during the first 2 to 3 years, as in this case. Focal motor seizures or generalised tonicclonic seizures predominate initially; older children develop complex partial seizures [4,6]. In this case, initially generalised tonic-clonic seizures began at 1 year of age with febrile illness and thereafter, febrile seizures and hemiparesis developed. The presence of facial angioma in an epileptic patient usually gives a diagnostic clue to SWS. Only about 10% of patients with facial angioma have an intracranial lesion and the diagnosis of SWS should be reserved for these children [3,6]. Patients who have typical clinical and radiological findings of SWS but no facial angioma have previously been reported [1, 2, 3,5]. In the absence of facial angioma, diagnosis is based on the radiological confirmation of the leptomeningeal angiomatosis and demonstration of the intracranial calcification on the CT scan [3]. Enlargement and/or calcification of the choroid plexus, thickening of the calvarium, and focal brain atrophy can also be observed [3]. Gyriform calcification Eur J Pediatr (2002) 161: 505–506 DOI 10.1007/s00431-002-1033-6