Ghosh T, Binoy K Singh B. Tuberous Sclerosis: An Overview of All Aspects of the Disease Based On a Pediatric Case. Iran J Neurosurg 2022; 8 (1) : 33
URL:
http://irjns.org/article-1-335-en.html
1- Senior Resident of Neurosurgery, Department of Neurosurgery,NEIGRIHMS, Shillong, India , tamajyoti@gmail.com
2- Associate Professor of Neurosurgery, Department of Neurosurgery,All India Institute of Medical Sciences, Raipur, India
Abstract: (766 Views)
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.
Article number: 33
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• Tuberous sclerosis is a rare genetic multiorgan disease. Early diagnosis and management of tuberous sclerosisaim to prevent complications.
• Here we discuss the case of a 10-year-old boy who presented with a seizure disorder and hypopigmented patches on his face and body.
• Further evaluation showed subependymal giant cell astrocytoma in his brain and multiple hamartomatous lesion in the liver and kidney. Hypopigmented patches on his body were later identified by a dermatologist as shagreen patches.
• Based on the tuberous sclerosis complex consensus conference 2012 criteria, a diagnosis of tuberous sclerosis was established.
• We hereby emphasize diagnosis based on clinical criteria rather than time-consuming and expensive genetic tests for diagnosis of tuberous sclerosis. Frequent and regular follow-up of such patients helps to deal with complications and improve the patient's quality of life.
Type of Study:
Case report |
Subject:
Brain Tumors