Sturge Weber syndrome: journey of 10 years

Seema Rai; Nikhil Arora; Shefali Dhawan; Sugandh Sareen

doi:10.18203/2349-3291.ijcp20241376

Authors

Seema Rai Department of Pediatrics, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, India
Nikhil Arora Department of Pediatrics, Government Medical College Patiala, Patiala, Punjab, India
Shefali Dhawan Department of Radiodiagnosis, Government Medical College Patiala, Patiala, Punjab, India
Sugandh Sareen Department of Pediatrics, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20241376

Keywords:

Sturge-Weber syndrome, Neurocutaneous syndrome, Port wine nevi

Abstract

Sturge-Weber syndrome is the third most prevalent neurocutaneous condition after neurofibromatosis and tuberous sclerosis. It is characterized by alterations in the brain, skin, and eyes vasculature, caused by abnormal fetal vein growth. Symptoms include port wine nevi 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. Authors present case of a 9-year-old female suffering from seizures since many years without any definitive diagnosis, to increase awareness among pediatricians for early diagnosis and better management for this syndrome.

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