Missed tuberous sclerosis complex with multi-system complications in a single patient

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread clinical manifestations. Early diagnosis is usually possible when typical TSC related skin lesions and neurologic presentations are detected in young patients. Undiagnosed TSC patients are at increased ris...

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Autores principales:	Shu Syi Lim, MBBS, Muhammad Zahid Abdul Muien, MD, DrRad, Shaun Darren Aeria, MBBS, MRad, Chiak Yot Ng, MBBS, MMed(Rad), Yong Guang Teh, MD, DrRad
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2022
Materias:	Tuberous sclerosis complex Multi-system Complications Angiomyolipoma Subependymal giant cell astrocytoma Medical physics. Medical radiology. Nuclear medicine R895-920
Acceso en línea:	https://doaj.org/article/9060153bab0442fb944e487295f8d13b
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spelling	oai:doaj.org-article:9060153bab0442fb944e487295f8d13b2021-11-30T04:15:00ZMissed tuberous sclerosis complex with multi-system complications in a single patient1930-043310.1016/j.radcr.2021.09.072https://doaj.org/article/9060153bab0442fb944e487295f8d13b2022-01-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S1930043321007159https://doaj.org/toc/1930-0433Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread clinical manifestations. Early diagnosis is usually possible when typical TSC related skin lesions and neurologic presentations are detected in young patients. Undiagnosed TSC patients are at increased risk of morbidity and mortality as disease progression will inevitably lead to complications. While case reports of single complications in pediatric patients have been documented, to the best of our knowledge, multi-system complications of TSC in adults have yet to be reported in the literature. We present a case of tuberous sclerosis diagnosed in adulthood with complications involving the central nervous, renal and respiratory systems. This case highlights the need for a multidisciplinary approach in the management of TSC as well as the role of imaging in both diagnosis and intervention.Shu Syi Lim, MBBSMuhammad Zahid Abdul Muien, MD, DrRadShaun Darren Aeria, MBBS, MRadChiak Yot Ng, MBBS, MMed(Rad)Yong Guang Teh, MD, DrRadElsevierarticleTuberous sclerosis complexMulti-systemComplicationsAngiomyolipomaSubependymal giant cell astrocytomaMedical physics. Medical radiology. Nuclear medicineR895-920ENRadiology Case Reports, Vol 17, Iss 1, Pp 27-31 (2022)
institution	DOAJ
collection	DOAJ
language	EN
topic	Tuberous sclerosis complex Multi-system Complications Angiomyolipoma Subependymal giant cell astrocytoma Medical physics. Medical radiology. Nuclear medicine R895-920
spellingShingle	Tuberous sclerosis complex Multi-system Complications Angiomyolipoma Subependymal giant cell astrocytoma Medical physics. Medical radiology. Nuclear medicine R895-920 Shu Syi Lim, MBBS Muhammad Zahid Abdul Muien, MD, DrRad Shaun Darren Aeria, MBBS, MRad Chiak Yot Ng, MBBS, MMed(Rad) Yong Guang Teh, MD, DrRad Missed tuberous sclerosis complex with multi-system complications in a single patient
description	Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread clinical manifestations. Early diagnosis is usually possible when typical TSC related skin lesions and neurologic presentations are detected in young patients. Undiagnosed TSC patients are at increased risk of morbidity and mortality as disease progression will inevitably lead to complications. While case reports of single complications in pediatric patients have been documented, to the best of our knowledge, multi-system complications of TSC in adults have yet to be reported in the literature. We present a case of tuberous sclerosis diagnosed in adulthood with complications involving the central nervous, renal and respiratory systems. This case highlights the need for a multidisciplinary approach in the management of TSC as well as the role of imaging in both diagnosis and intervention.
format	article
author	Shu Syi Lim, MBBS Muhammad Zahid Abdul Muien, MD, DrRad Shaun Darren Aeria, MBBS, MRad Chiak Yot Ng, MBBS, MMed(Rad) Yong Guang Teh, MD, DrRad
author_facet	Shu Syi Lim, MBBS Muhammad Zahid Abdul Muien, MD, DrRad Shaun Darren Aeria, MBBS, MRad Chiak Yot Ng, MBBS, MMed(Rad) Yong Guang Teh, MD, DrRad
author_sort	Shu Syi Lim, MBBS
title	Missed tuberous sclerosis complex with multi-system complications in a single patient
title_short	Missed tuberous sclerosis complex with multi-system complications in a single patient
title_full	Missed tuberous sclerosis complex with multi-system complications in a single patient
title_fullStr	Missed tuberous sclerosis complex with multi-system complications in a single patient
title_full_unstemmed	Missed tuberous sclerosis complex with multi-system complications in a single patient
title_sort	missed tuberous sclerosis complex with multi-system complications in a single patient
publisher	Elsevier
publishDate	2022
url	https://doaj.org/article/9060153bab0442fb944e487295f8d13b
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Missed tuberous sclerosis complex with multi-system complications in a single patient

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