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- Title
Tuberous Sclerosis: An Overview of All Aspects of the Disease Based on a Pediatric Case.
- Authors
Ghosh, Tamajyoti; Singh, Binoy K
- Abstract
Background and Importance: Tuberous sclerosis, also known as Bourneville’s disease is a rare autosomal dominant disease affecting multiple systems. In this case report, we emphasize the importance of clinical criteria instead of genetic analysis in diagnosing tuberous sclerosis and the need for rigorous follow-up of patientsto prevent complications. Case Presentation: Here we present a case of a 10-year-old boy presenting with intractable seizure and hypo-pigmented patches on his face and back of trunk. In neuroimaging evaluation, subependymal giant cell astrocytoma was diagnosed. Further, hisabdominal ultrasound showed multiple hamartomatous lesions in the liver and bilateral kidney. His cardiology and dental evaluation were normal. The dermatologist diagnosed a shagreen patch on the back of his trunk. Based on the latest clinical diagnostic criteria, he was diagnosed with a case of tuberous sclerosis and has been on the rigorous follow-up ever since. Conclusion: Since tuberous sclerosis is a multisystem disease, early diagnosis is necessary to prevent acute symptoms and prevent long-term complications. Here we emphasize the need to use clinical criteria instead of genetic study for early diagnosis of tuberous sclerosis.
- Subjects
TUBEROUS sclerosis diagnosis; PEDIATRICS; JUVENILE diseases; SEIZURES (Medicine); PIGMENTATION disorders
- Publication
Iranian Journal of Neurosurgery, 2022, Vol 8, p1
- ISSN
2423-6497
- Publication type
Article
- DOI
10.32598/irjns.8.33