|Year : 2013 | Volume
| Issue : 3 | Page : 79-82
Sturge-Weber syndrome with bilateral nevus flammeus
Kaiser Ahmed1, Atiya Yaseen2, Iffat Hassan2, Parvaiz A Shah3
1 Department of Paediatrics, GB Pant Hospital, Jammu and Kashmir, India
2 Department of Dermatology, Sexually Transmitted Diseases and Leprosy, Government Medical College, Srinagar, University of Kashmir, Jammu and Kashmir, India
3 Department of Medicine, Government Medical College, Srinagar, University of Kashmir, Jammu and Kashmir, India
|Date of Web Publication||26-Nov-2013|
Department of Dermatology, Sexually Transmitted Diseases and Leprosy, Government Medical College, Srinagar, Jammu and Kashmir
Source of Support: None, Conflict of Interest: None
Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare vascular neurocutaneous alteration. It is characterized by facial nevus - usually unilateral, seizures, hemiparesis, intracranial calcification, mental retardation and ocular involvement. Nevertheless each case of SWS is unique and exhibits the characteristic features to a varying degree. We report here a case of SWS who presented with features suggestive of this syndrome, and having bilateral facial nevus as well.
Keywords: Encephalotrigeminal angiomatosis, facial nevus, hemiparesis, neurocutaneous, Sturge-Weber syndrome
|How to cite this article:|
Ahmed K, Yaseen A, Hassan I, Shah PA. Sturge-Weber syndrome with bilateral nevus flammeus. Indian J Paediatr Dermatol 2013;14:79-82
|How to cite this URL:|
Ahmed K, Yaseen A, Hassan I, Shah PA. Sturge-Weber syndrome with bilateral nevus flammeus. Indian J Paediatr Dermatol [serial online] 2013 [cited 2020 Jan 24];14:79-82. Available from: http://www.ijpd.in/text.asp?2013/14/3/79/122171
| Introduction|| |
Sturge-Weber syndrome (SWS) is a rare nonhereditary developmental condition, first described by Schirmer in 1860. More specific description was given by Sturge in 1879.  It occurs with a frequency of 1:50,000.  It is characterized by angiomatosis of face (nevus flammeus or port wine stain) with a variable distribution sometimes matching the dermatomes of one or more divisions of the trigeminal nerve. The port wine stain is a congenital malformation of the dermis that involves venules, capillaries, and possibly perivenular nerves. It occurs in an estimated 3/1000 births.  Most lesions appear on the face. It is usually unilateral but may be bilateral or totally absent or may extend to neck, limbs and other parts of the body. Approximately 5% of patients have associated ocular involvement, mental retardation, and seizures due to the involvement of the vasculature of eye and the central nervous system. Oral changes occur in 40% cases of this syndrome and may include massive growth of the gingiva and asymmetric jaw growth. Intracranial convolutional calcification is discernible on skull radiograph. A constellation of findings is called SWS.  This study illustrates a case of SWS in a 6-month-old boy, who presented with seizures, bilateral facial port wine stain along with magnetic resonance imaging (MRI) features of the syndrome.
| Case Report|| |
A 6-month-old male child, first product of a non-consanguineous marriage was brought to the outpatient Department of Pediatrics GB Pant Hospital (associated teaching hospital of Government Medical College, Srinagar) who presented with multiple episodes of right sided tonic clonic seizures with facial twitching that lasted 5-7 min with a frequency of 2-3 times/day, followed by a period of unconsciousness of about 5 min, since 1 week. Episodes of seizures were not associated with urinary or fecal incontinence. The only treatment he received was cold wet sponging of the forehead. Mother also gave a history of reddish discoloration on both sides of his face since birth, and gradual enlargement was noticed. He was born at full term by normal vaginal delivery, with uneventful antenatal, intranatal and postnatal periods. The child was developmentally normal.
On examination, the child weighed 7.2 kg and measured 68 cm. He was afebrile with a pulse rate of 130/min, respiratory rate of 36/min and his blood pressure was 90/70 mmHg. Extra oral examination revealed a facial nevus (port-wine stain) which had a bilateral distribution along multiple segments of the trigeminal nerve [Figure 1]. Additional port-wine lesions were found bilaterally on the pinnae, the neck and on the right side of the scalp [Figure 2], [Figure 3], [Figure 4]. On applying digital pressure on the port wine stain blanching was readily identified. No bruit or thrill was heard on auscultating the facial nevus. Oral mucosa revealed no abnormality. All four limbs had a normal power with increased tone and brisk deep tendon reflexes. Rest of the systemic examination was normal. Ophthalmologic examination was normal.
|Figure 1: Clinical picture of the patient showing bilateral port wine stain along the distribution of all three branches of the trigeminal nerve|
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|Figure 2: Port wine stain on the right side of face with extension to ipsilateral pinna and scalp|
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Hematological and biochemical profile was unremarkable. Skull radiograph was normal. MRI brain showed left cerebral hemiatrophy [Figure 5]; however, computerized tomography scan of the brain revealed no abnormality.
|Figure 5: Magnetic resonance imaging of the brain showing left cerebral hemi‑atrophy|
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Based on the presence of facial port wine stain, focal seizures and cerebral hemiatrophy a diagnosis of SWS was made.
| Discussion|| |
SWS is a congenital but not inherited disease. It is a 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. , This syndrome occurs with equal frequency in both sexes, with seizures typically developing in the 1 st year of life.
SWS is referred to as complete when both central nervous system and facial angiomas are present and incomplete when only one area is affected without the other. Our patient had complete SWS. The Roach scale  is used for classification:
Type I: Both facial and leptomeningeal angiomas; may have glaucoma
Type II: Facial angiomas alone; may have glaucoma
Type III: Isolated leptomeningeal angiomas; usually no glaucoma.
Port wine stains in childhood are classically faint, pink macules, tend to darken progressively to red purple. It is classified as a vascular malformation. Vascular anomalies are a heterogeneous group of congenital blood vessel disorders, subcategorized into vascular tumors and malformations (venous, capillary, arteririal, arteriovenous), whereas hemangiomas are the most common vascular tumors. Most hemangiomas are not usually present at birth or are very faint red marks. Shortly after birth, however, they grow rapidly. Over time, they become smaller (involute) and lighter in color. Vascular malformations are present at birth and enlarge proportionately with the growth of the child. They do not involute spontaneously and may become more apparent as the child grows. They do not show any gender bias and are glucose transporter 1 negative. The latter is positive in hemangiomas which are more common in girls.
A port wine stain usually has unilateral distribution along one or more segments of the trigeminal nerve. Occasionally bilateral involvement or additional port wine lesions are found elsewhere in the body. The port wine nevi are localized in the face, especially on the right side and are detected in 87-90% of the cases. The lesion extension over the middle line is observed in 50% of the patients and bilateral involvement can be detected in about 33% of the cases. , Extensive nevus flemmus associated with pigmentary nevi, particularly in the form of aberrant, widespread, and persistent Mongolian spots occurs in Phakomatosis pigmentovascularis,  which is classified into 4 types (Hasegawa and Yasuhara, 1979):
- Nevus flammeus
- Nevus pigmenosus/verrucosus
- Nevus flammeus
- Mongolian spots
- Nevus flammeus
- Nevus spilus
- Nevus flammeus
- Mongolian spots
- Nevus spilus.
Between 75% and 85% of phacomatosis pigmento-vascularis cases are represented by Type II. Our case is interesting due to the presence of bilateral facial port wine stain, along with its presence at some other sites such as the scalp and neck as well.
Neurological deficit is caused by the intracranial vessel malformation. Imaging findings consist of cortical calcifications - tram line calcifications (30%), cortical atrophy, enlarged ipsilateral choroid plexus, pial angiomatosis. Our patient developed seizures at the age of 6 months. SWS has been reported in neonates as well  and seizures are seen in about 75-90% of patients with SWS The early onset of seizures prior to the age of 2 years is related to a poor prognosis. 
Eye manifestations include glaucoma (30-70%) and buphthalmos (up to 50% of newborns with SWS). The risk of glaucoma is highest in the first decade. The other ocular findings that may be present in SWS include choroidal angioma, episcleral/conjunctival angiomas. Less often, there could be heterochromia of the iris, optic atrophy and dilated retinal veins.  In this present specific case, the patient had a normal ophthalmological examination.
Most cases with SWS are not life threatening. This is a progressive disease, associated with continuous neurological decline. With control and treatment of symptoms quality of life can be preserved. The treatment for port wine stains depends on the site and extent of the lesion. The choices are laser photo coagulation, sclerotherapy, surgical resection, and a combination of these. Some lesions may not be curable and should be treated for symptom relief. Surgery should be considered especially if MRI shows the lesion to have a defined border and to be accessible. For lesions that cannot be operated patient is advised to sleep with the head elevated at an in the incline of at least 45°. Significant venous distention of these vessels occurs over the years as a result of supine positioning. 
We recommend that children with SWS should undergo regular yearly follow-up visits for neurophysiological testing so that appropriate recommendations can be made to support their progress cognitively, emotionally and socially.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]