Tuberous sclerosis complex: A case report and literature review

Autor: Damaris Magdalene, Harsha Bhattacharjee, Dipankar Das, Amjad Ali, D.S. Misra
Rok vydání: 2020
Předmět:
Zdroj: Indian Journal of Clinical and Experimental Ophthalmology. 4:290-293
ISSN: 2395-1451
2395-1443
DOI: 10.18231/2395-1451.2018.0065
Popis: Tuberous Sclerosis Complex is a rare genetic disorder of autosomal dominant inheritance. It is a neurocutaneous syndrome exhibiting multiple hamartomatous proliferations involving multiple organ system such as brain, kidney, heart, lungs, eyes and skin. Here, we present a case report of a 7year old male patient with characteristic clinical and radiological features of Tuberosis Sclerosis Complex. Keywords: Genetic disorder, Multiple hamartomas, Neurocutaneous syndrome, Tuberous sclerosis complex.
Databáze: OpenAIRE