Tuberous sclerosis complex: Imaging characteristics in 11 cases and review of the literature

Tuberous Sclerosis Complex (TSC) also known as Bournneville disease. TSC is a multisystemic genetic disorder with autosomal dominant inheritance, of variable expression, which is mainly characterized by the presence of benign tumors or hamartomas in the nervous system and skin, but which may also be present in the heart, kidney, lung and other organs. The most frequent symptom is epilepsy, affecting 80-90% of patients with TSC which manifests itself in childhood between 1 to 3 years of age. We present a case of sporadic onset tuberous sclerosis with epilepsy that had a causal link with TSC after admission to the emergency room in a convulsive status.

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A case series of tuberous sclerosis complex: Clinico-radiological study and review of the literature

West African Journal of Radiology ◽

10.4103/1115-3474.198155 ◽

2017 ◽

Vol 24 (1) ◽

pp. 109

Author(s):

PK Gupta ◽

R Kukreja ◽

M Mital ◽

N Rathee

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Case Series ◽

Review Of The Literature ◽

Radiological Study

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Apparent Diffusion Coefficient is Increased in Children with Tuberous Sclerosis Complex Personal Experience and Review of the Literature

The Neuroradiology Journal ◽

10.1177/197140090702000603 ◽

2007 ◽

Vol 20 (6) ◽

pp. 622-626 ◽

Cited By ~ 1

Author(s):

E. Jurkiewicz ◽

S. Jóźwiak ◽

M. Bekiesińska-Figatowska ◽

J. Walecki

Keyword(s):

Diffusion Coefficient ◽

Apparent Diffusion Coefficient ◽

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Personal Experience ◽

Review Of The Literature ◽

Apparent Diffusion

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Bladder perivascular epithelioid cell tumour and tuberous sclerosis complex: a rare association

BMJ Case Reports ◽

10.1136/bcr-2021-241635 ◽

2021 ◽

Vol 14 (5) ◽

pp. e241635

Author(s):

Jo Lin Tee ◽

Jonathan Chambers ◽

Geoffrey Strutton

Keyword(s):

Case Report ◽

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

De Novo ◽

Epithelioid Cell ◽

Clinical Implications ◽

Review Of The Literature ◽

Rare Association ◽

Perivascular Epithelioid Cell

Bladder perivascular epithelioid cell tumours (PEComas) associated with tuberous sclerosis complex (TSC) are rare, with only one other case report in the literature to date. We present our case of a bladder PEComa in a young adult female with TSC arising de novo. Histopathology showed features in keeping with an angiomyolipoma and confirmatory immunohistochemical stains were positive for both melanocytic and smooth muscle markers. She was well at the 6-month follow-up post-surgical resection. Given the rarity of such lesions in the bladder, we discuss the diagnostic and prognostic challenges, clinical implications and a brief review of the literature to date.

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The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review

Reviews in the Neurosciences ◽

10.1515/revneuro-2017-0027 ◽

2018 ◽

Vol 29 (3) ◽

pp. 295-301 ◽

Cited By ~ 6

Author(s):

Denise L. Chan ◽

Tessa Calder ◽

John A. Lawson ◽

David Mowat ◽

Sean E. Kennedy

Keyword(s):

Natural History ◽

Tuberous Sclerosis ◽

Giant Cell ◽

Tuberous Sclerosis Complex ◽

Obstructive Hydrocephalus ◽

Growth Patterns ◽

Imaging Characteristics ◽

Life Threatening ◽

History Of ◽

Mtor Activity

AbstractTuberous sclerosis complex (TSC) is an auto-somal-dominant inherited condition with an incidence of approximately 1:6000 births, characterised by deregulated mTOR activity with multi-site hamartomas. Subependymal giant cell astrocytomas (SEGA) are one such hamartoma, affecting up to 24% of patients with TSC. Their intraventricular location may lead to life-threatening obstructive hydrocephalus. Current management is hampered by a lack of understanding regarding the natural history, behaviour and growth patterns of SEGA. We review the current literature to summarise what is known about SEGA in the following areas: (1) diagnostic criteria, (2) prevalence, (3) origin, (4) imaging characteristics, (5) growth rate, (6) genotype-phenotype correlation, (7) congenital SEGA and (8) SEGA as a marker of severity of other TSC manifestations.

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