Dr. Jerin K John,Dr Vinayan KP
Dr C Jayakumar
A ten month old male child presented with staring look with paucity of left half of the body .There is history of mild developmental deadly .History is negative for headache, neck stiffness, photophobia, visual disturbances, head injury, weakness, or any drug intake. The patient didn’t have any inpatient care in the past in infancy except for respiratory distress for four days in the new born period .
He was diagnosed with glaucoma four months back and on treatment for that
On examination, his vitals were stable and PICCLE normal
Head to foot examination revealed a light pinkish-purple patch over the right forehead, periorbital, and maxillary region. Neurological, cardiovascular, respiratory, and abdominal examinations showed normal findings.
Clinical diagnosis of Sturgeon weber syndrome was made
Labs
CBC
RBS
RFT
Serum electrolytes
LFT
Chest X-ray
Electrocardiogram normal
MRI brain done showed cerebral atrophy more prominent in frontal and parietal lobes on right side. Leptomeningeal Angiomatosis involving frontal and parietal lobe on right side with prominent medullary veins in right parietal region
In view of presence of right sided facial hemangioma, possibility of Sturge weber syndrome was confirmed
CT brain showed angiomatous changes with some calcification on right side.
EEG – Suppression of background activity on right cerebral hemisphere.
No definite epileptiform discharge were noted.
Differential Diagnosis.
1. Port-wine stain without neurological involvement
2. Klippel-Trenaunay syndrome
3. Cobb syndrome (Cutaneomeningospinal angiomatosis)
4. Phakomatosis pigmentovascularis
5. Capillary malformations associated with other syndromes like Proteus syndrome or PTEN hamartoma tumorsyndrome
6. Congenital hemiparesis and hemiplegia
7. Cerebral arteriovenous malformations (AVMs)
8. Rasmussen’s encephalitis
9. Vascular malformations without neurological involvement
10. Isolated seizures without underlying structural abnormalities
Child was treated with IV lorazepam, fosphenytoin and Phenobarbitone and was discharged on Leviteracetam and Phenytoin
They have continued management of glaucoma a common association of sturgeon Weber at outside hospital
Discussion
Sturge-Weber syndrome, also known as encephalotrigeminal angiomatosis, is a neurocutaneous disorder characterized facial, choroidal, and leptomeningeal angiomas.
It’s the third most common neurocutaneous syndrome, typically manifesting with seizures and facial port-wine stains. It’s caused somatic mosaic mutations in the GNAQ gene. Diagnosis relies on clinical symptoms, facial appearance, and brain MRI findings. Management focuses on seizure control with medications, and surgery may be considered for refractory cases. An interprofessional team approach is crucial for comprehensive care, involving pediatricians, neurologists, ophthalmologists, radiologists, and neurosurgeons. Prognosis varies depending on associated anomalies, and patient education about symptom management is vital.