Sturge Weber syndrome: journey of 10 years

INTRODUCTION

Sturge-Weber syndrome also known as encephalotrigeminal angiomatosis is the third most prevalent neurocutaneous condition after neurofibromatosis and tuberous sclerosis.¹ There are somatic mosaic mutations at the GNAQ gene on long arm of chromosome 9 that cause this rare developmental disorder.² Its occurrence is 1 in 50000 population.³ It results from anomalous development of the primordial vascular bed during the early stages of cerebral vascularization.⁴ Symptoms include development of port wine nevi, which are more common on the upper face and eye-lid than rest of the body. Neurological manifestations include atonic, tonic or myoclonic type of seizures which are refractory to usual treatment.⁵ We present case of a 9-year-old female suffering from seizures since many years without definitive diagnosis. The patient finally responded to oxcarbazepine. Sturge-Weber syndrome is classified as a rare disease by national organization of rare disorders; hence we plan to report this case to increase awareness among paediatricians for early diagnosis and better management for this syndrome.

CASE REPORT

A 9-year female presented to our center with complaints of fever and cough for 3 days along with one episode of abnormal body movements 5 hours before presentation. Fever was high grade, intermittent and was not associated with chills and rigor with no history of loose stools, vomiting and burning micturition. Cough was nonproductive in nature with no diurnal variation. Patient also had complaints of sudden onset jerky movements of left hand which lasted for 1-2 minutes, relieved of its own with no loss of consciousness. There was history of similar multiple episodes of abnormal body movements from 1 year of age for which patient was prescribed oral sodium valproate at 20 mg/kg/day but with no resolution of symptoms. A red-colored patch with well-defined margins was seen on right side of forehead (Figure 1) which was present since birth. Its pattern did not change during the course of illness. History of birth asphyxia followed by NICU stay for 3-4 days was present. At the presentation, the patient looked anxious but was oriented to time, place, and person.

Her heart rate was 105/min (normal range-70-120 bpm), respiratory rate 24/min (normal 20-25/min), and oxygen saturation of 99% in room air. GCS was 12/15 (E3V4M5). There was right sided deviation of angle of mouth along with ptosis on the same side. As compared to right side, tone appeared to be decreased in left upper and lower limb. Power was recorded as 1/5 in left upper and lower limb, whereas it was 4/5 on right side. DTR was exaggerated and extensor planters’ response. Pupils were bilaterally reactive. Kernig’s and Brudzinski’s were absent.

On fundus examination tortuous vessels were seen on peripheries with no sign of disc edema. Child was developmentally normal. Differential diagnosis of? meningoencephalitis? meningitis was made. Patient underwent MRI brain from outside before presenting to our center, which showed large area of cytotoxic edema involving right fronto-temporal -parietal lobes suggesting? Encephalitis. Injection sodium valproate was loaded and hiked to 30 mg/kg/day along with other symptomatic measures. 3% saline started at 0.5 ml/kg/hr. Antibiotics were started as per unit protocol after taking blood cultures and other routine blood investigations. Hb=11.9 g/dl, WBC=11240 (76%N, 14%L), platelet count=347000, CRP=18.7mg/l, S. Sodium=140eq/l, S. Potassium=4.0 me/l, S. Calcium-9.4 mg/dl, S. Magnesium=2.5 mg/l, AST/ALT/ALP= 37/33/125 IU/l, total/direct bilirubin=0.7/0.2 mg%.

Lumber puncture was also planned. During hospital stay patient had multiple episodes of seizures for which injection valproate was further hiked to 50 mg/kg/day and injection levetiracetam was added at 20 mg/kg/day. Lumber puncture examination was normal. Repeat MRI brain was done as patient was not improving, which showed prominent vascular channels in right cerebral hemisphere transversing white matter with prominent deep venous sinus system along with diffuse hypo intensity in right cerebral hemisphere with cerebral atrophy in form of prominent sulci (Figure 2). Calcification in right occipital lobe was also seen (Figure 3). All these findings suggested diagnosis of Sturge Weber Syndrome. Tablet oxcarbazepine was started at 10 mg/kg/day. Later child improved clinically, sensorium got better and seizures were controlled. Intravenous antibiotics were stopped after 10 days and patient shifted to oral anticonvulsants. Child got discharged after 15 days of hospitalization. On subsequent follow ups the child remained seizure free, dosage of valproate was tapered; levetiracetam and oxcarbazepine were continued.

DISCUSSION

Sturge-Weber syndrome is a neurocutaneous condition characterized by alterations in the brain, skin, and eyes vasculature, causes by abnormal fetal vein growth. These variation leads to cerebral ischemia, atrophy and neuronal degradation caused by hypoperfusion of underlying cerebral cortex.⁶ According to the Roach scale, there are three categories for SWS: Type I: Leptomeningeal and facial angiomas; glaucoma may be present. Type II: Just facial angiomas; glaucoma may be present. Type III: Leptomeningeal angiomas that are isolated; glaucoma is often absent.⁷ Although port wine stain is present from birth, but only 20-50% are associated with this syndrome. In about 75-90% cases patient presents with seizures which are usually focal and starts by 1 year of age. It can become generalized later.⁵ Seizures are usually difficult to control. Hemiparesis follows in about 25-50% of the patients, opposite to side of the port-wine nevus. There is 10-35% risk of brain involvement in patients with facial port wine stain. In our case also focal seizures started at 1 year of age, but diagnosis was missed due to lack of awareness for this syndrome. Later child presented with left sided hemiparesis and port-wine-stained mark on right side of forehead along with characteristic MRI changes on right side only. Developmental delay, intellectual and learning disability may develop. Child may also develop glaucoma and buphthalmos but these eye abnormalities were absent in our case.^8,9 Intracranial vessels deformity may cause neurological deficit in child. Radiological Imaging shows tram line calcifications, enlarged ipsilateral choroid plexus, cerebral atrophy and pial angiomatosis. Radiological investigation of choice is MRI but calcification is best seen in CT scan. Mainly symptomatic treatment is done. Anti-epileptics and anti-glaucoma medications are prescribed. In our case seizures were controlled by tablet oxcarbazepine at 10 mg/kg/day. In refractory seizures hemicraniectomy can also be done.¹⁰ Low-dose aspirin may be started at time of diagnosis to prevent stroke and decrease the progress of cerebral atrophy. For port-wine nevus selective photo-thermolysis may be done.

CONCLUSION

Sturge-Weber syndrome is rare genetic disorder with no definitive cure. The patient is managed symptomatically. An increased index of suspicion should be kept for this rare disease for timely management to prevent morbidity in children.

Funding: No funding sources

Conflict of interest: None declared

Ethical approval: Not required

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