Management of patient with Sturge-Weber syndrome: a case report
© Govori et al; licensee BioMed Central Ltd. 2009
Received: 5 November 2009
Accepted: 23 December 2009
Published: 23 December 2009
Sturge-Weber syndrome sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder.
This is case report of a 18-year-old mentally disabled boy, with long-standing seizures, with a port-wine nevi on the left side of the face along the distribution of trigeminal nerve. Interictal encephalogram showed bilateral slow activity, pronounced in the left hemisphere, with epileptogenic activity in the left temporo-parietal region. Skull radiograph, computerized tomography and magnetic resonance imaging showed intracranial calcifications and atrophy of the left brain hemisphere.
Professional counseling and support in addition to drug treatment can provide help to patients and their family to overcome their problems and improve the treatment outcome.
The Sturge-Weber syndrome is a neurocutaneus congenital but not an inherited disease and it occurs sporadically. It is a disorder of vasculature which belongs to the group of phacomatoses characterized by nevus flammeus and angiomas of the meninges . It is a rare disease characterized by a birth mark called port wine nevi, associated with abnormalities of the brain caused by abnormal blood vessels (angiomas) that occur on the cerebral cortex [2, 3]. These changes are usually unilateral. It can be seen in both sexes equally, and no racial differences have been identified. Port wine nevi are congenital malformations in the dermis of the skin involving venules, capillaries and possibly perivenular nerves .
An 18 years old mentally disabled boy living in a rural part of Kosova developed seizures at the age of 4 months. At that time he was hospitalized and treated in the Department of Neurology in Skopje-Macedonia. The diagnosis, Sturge Weber syndrome, given to him during that time was based only on clinical signs: port-wine nevi on the left side of the face along the distribution of the trigeminal nerve, generalized seizures, and hemiparesis of the right side of the body. Additionally, the patient has received Phenobarbital 30 mg per day and used the medication for some months. Because of poor financial conditions, the patient's family could not provide him regular medication. From that time, the patient had regular partial seizures (right-sided tonic clonic seizures with facial twitch) that lasted 2-3 minutes with a frequency of 2-3 times per day. While he was experiencing these frequent seizures (for years) the only treatment he received was some cold wet towels placed on his forehead.
Thus he had not been treated until 2005 when his family brought him for the first time in our Clinic of Neurology in Prishtina. Patient was brought in the Clinic of Neurology with severe complex partial seizures (no EEG recording is shown in presentation), presenting with a history of epilepsy which was not well controlled.
Inter-ictal encephalogram showed bilateral slow wave activity, greater over the left side, with epileptogenic activity in the left temporo-parietal region.
The patient was referred for neuropsychological and neuro-ophthalmologic examination.
Psychological examination revealed IQ = 52 (Goodinaph test, Kohs test). He also showed latent aggressive tendencies and emotional imbalance.
Sturge-Weber Syndrome is a congenital but not inherited disease. It is neurocutaneous syndrome presented with vascular malformations resulting from the failure of fetal veins to develop normally, changes in the brain, skin, and eye. These malformations lead to venous hypertension and subsequent hypoperfusion of the underlying cortex causing chronic cerebral ischemia, atrophy, and neurological deterioration. Sturge-Weber syndrome is a rare disease in the group of phakomatoses that cause physical, psychological, and social disorders. This syndrome occurs with equal frequency in both sexes, with seizures typically developing in the first year of life [5, 6].
This is a case report of a young patient who has type one of Sturge-Weber Syndrome according to the Roach Scale classification. It consists of cerebral calcifications, birth mark, seizures, glaucoma, hemi paresis, mental retardation, and cerebral atrophy [7–9]
Neurological deficit is caused by the intracranial vessels malformation . Imaging findings consist of cortical calcifications - tram line calcifications, cortical atrophy, enlarged ipsilateral choroid plexus, pial angiomatosis . The best imaging modality is MRI while calcifications can be assessed in detail on CT images. The early onset of seizures prior to the age of 2 years is related to a poor prognosis with mental retardation, refractory epilepsy , because of the larger involvement of brain dysfunction.
Ophthalmologic abnormality is common in cases when port wine nevi are distributed in the ophthalmic and maxillary division of trigeminal nerve.
Most cases with Sturge-Weber syndrome are not life threatening. This is a progressive disease, associated with continuous neurological decline . With vigorous control and treatment of symptoms, such as seizures, visual problems, paralysis and mental disorder, quality of life can be preserved.
A detailed history, physical and mental state examination, neuropsychological, neuroimaging and laboratory investigations were undertaken in our case. Our patient developed seizures at the age of 4 months. Sturge Weber syndrome has been reported in neonates as well - a case of 2 days old baby  and seizures are seen in about 75 to 90% of patients with Sturge-Weber syndrome .
Our patient had port - wine nevi on the left side of the face along the distribution of all three branches of the trigeminal nerve. Facial capillary vascular malformation-port-wine stain is common in the pediatric population, a study of 106 patients with port-wine stains, Enjolras et al concluded that patients with lesions located in the ophthalmic and trigeminal distribution areas are at risk for associated neuro-ocular symptoms .
In our patient, ophthalmologic examination of the left eye showed congestion of blood vessels, initial compensated glaucoma with increased ocular tension of 24 mmHg. The right eye was unremarkable. Glaucoma can be seen in up to 70% of cases with Sturge - Weber syndrome .
X ray of the skull showed confluent "tram-line" calcifications, while computerized tomography has shown the gyriphorm calcifications with atrophy of left hemisphere confirmed also with MRI associated with mental retardation our patient has. Cortical calcifications present at birth are reported in 30%  In cases of development delay and mental retardation, 50 to 60% of patients with Sturge - Weber syndrome are affected .
In this case, seizures were controlled with Carbamazepine 600 mg.
In this case report we emphasize that regular treatment of the patient with Sturge-Weber with carbamazepine 600 mg results in long term seizure free. A successful early treatment results in control of seizures and prevention of complications.
Additionally, we strongly emphasize that professional counseling and support in addition to drug treatment can provide proper assistance to patients and their family to overcome their problems and improve the outcome of the treatment.
Written informed consent was obtained from the patient for publication of this case report and accompanying copy of the written is available for review by the Editor-in-Chief of this journal.
- Griffiths PD: Sturge Weber Syndrome revisited: the role of neuroradiology. Neuropediatrics. 1996, 27: 284-294. 10.1055/s-2007-973796.View ArticlePubMedGoogle Scholar
- Thomas-Sohl KA, Vaslov DF, Maria BL: Sturge-Weber syndrome: a review. Pediatr Neurol. 2004, 30: 303-10. 10.1016/j.pediatrneurol.2003.12.015.View ArticlePubMedGoogle Scholar
- Castilo M: Neuroradiology companion. 2006, Lippincott W&W, Philadelphia, 231-233.Google Scholar
- Barsky SH, Rosen S, Geer DE, Noe JM: The nature and evaluation of port wine stains: A computer assisted study. J Invest Darmatol. 1980, 74: 154-157. 10.1111/1523-1747.ep12535052.View ArticleGoogle Scholar
- Bodensteiner JB, Roach ES: Sturge-Weber syndrome: Introduction and overview. Sturge-Weber Syndrome. Edited by: Bodensteiner JB, Roach ES. 1999, Sturge-Weber Foundation, Mt. Freedom, NJ, 1-10.Google Scholar
- Paller AS: The Sturge-Weber syndrome. Pediatr Dermatol. 1987, 4: 300-304. 10.1111/j.1525-1470.1987.tb00797.x.View ArticlePubMedGoogle Scholar
- Takeoka M, Riviello JJ: Sturge Weber Syndrome. [http://emedicine.medscape.com/article/1177523-overview]
- Comi AM: Pathophysiology of Sturge-Weber syndrome. J Child Neurol. 2003, 18: 509-516. 10.1177/08830738030180080701.View ArticlePubMedGoogle Scholar
- Chapieski L, Friedman A, Lachar D: Psychological functioning in children and adolescents with Sturge-Weber syndrome. J Child Neurol. 2000, 15: 660-665. 10.1177/088307380001501004.View ArticlePubMedGoogle Scholar
- Sturge WA: A case of partialepilepsy apparently due to a lesion of one of the vasomotor centres of the brain. Trans Clin Soc Lond. 1879, 12: 162-167.Google Scholar
- Osborn A, Salzman K, et al: Diagnostic imaging: Brain. 2004, Salt Lake City: Amyrsis, I-1-94-97Google Scholar
- Sujanski E, Conradi S: Outcome of Sturge-weber syndrome in 52 adults. Am J Med Gen. 1995, 57 (1): 35-45. 10.1002/ajmg.1320570110.View ArticleGoogle Scholar
- Rochkind S, Hoffman HJ, Hendrick EB: Sturge Weber Syndrome: natural history and prognosis. J Epilep. 1990, 3: 293.Google Scholar
- Zhuo BY, Lu GJ, Ye ZZ: A case of Sturge Weber syndrome. Zhonghua Er Ke Zq Zhi. 2004, 42: 944.Google Scholar
- Kugler RM: Sturge - Weber syndrome affects skin and brain. [http://rarediseases.about.com/od/rarediseasess/a/sturgeweber.htm]
- Enjolras O, Riche MC, Merland JJ: Facial port wine stains and Sturge - Weber syndrome. Pediatrics. 1985, 76 (1): 48-51.PubMedGoogle Scholar
- Khan NA, Tunbull I, MacDonald S: Sturge - Weber syndrome. [http://emedicine.medscape.com/article/414222-overview]
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