A case of tuberous sclerosis complex revealed by epilepsy
Noukhoum Koné, Mohamedou Ould Elhousseine
The Pan African Medical Journal. 2017;28:292. doi:10.11604/pamj.2017.28.292.13635

Create an account  | Log in
PAMJ Conf Proceedings Supplement 2
"Better health through knowledge sharing and information dissemination "

Images in medicine

A case of tuberous sclerosis complex revealed by epilepsy

Cite this: The Pan African Medical Journal. 2017;28:292. doi:10.11604/pamj.2017.28.292.13635

Received: 17/08/2017 - Accepted: 29/10/2017 - Published: 05/12/2017

Key words: Tuberous sclerois complex, epilepsy, skin lesions

© Noukhoum Koné et al. The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Available online at: http://www.panafrican-med-journal.com/content/article/28/292/full

Corresponding author: Noukhoum Koné, Service de Neurochirurgie, Centre Hospitalier de Kiffa, Mauritanie (colo10fr@hotmail.com)


A case of tuberous sclerosis complex revealed by epilepsy

Noukhoum Koné1,&, Mohamedou Ould Elhousseine2

 

1Service de Neurochirurgie, Centre Hospitalier de Kiffa, Mauritanie, 2Service de Pédiatrie, Centre Hospitalier de Kiffa, Mauritanie

 

 

&Corresponding author
Noukhoum Koné, Service de Neurochirurgie, Centre Hospitalier de Kiffa, Mauritanie

 

 

Image in medicine    Down

Tuberous sclerosis complex (TSC) is a multisystem genetic disease. Its incidence is estimated from 1/5800 to 1/1000 births. It results from the mutation of the TSC1 gene on chromosome 9 which codes for hamartin or the mutation of the TSC2 gene on chromosome 16 which codes for tuberin. In 80% of cases, it is linked to a neo-mutation and in 20% of cases it is autosomal dominant inherited from one of the parents. It is a multisystemic disease characterized by the presence of dysplasias, hamartomas and neoplasias in various organs: skin, kidneys, eyes, heart, lungs and mainly the brain. Clinically, epilepsy is the major complication of TSC and approximately 80-90% of patients will develop epilepsy in their lifetime. These epilepsies aren't specific but are generally characterized during evolution by their phamaco-resistance or by the complexity of the seizures. We report the case of a 12-year-old woman with partial epilepsy secondarily generalized, mental retardation and progressive facial angiofibromas (A) for 7 years. The electroencephalogram (EEG) performed 1 year ago showed bihemispheric irritant signs predominant at the frontotemporal right. The brain CT Scan with (B) and without injection of iodinated contrast agent (C) shows calcified subependymal nodules with supratentorial seat with bilateral asymmetric involvement and uncalcified cortical tubercles. The addition of the characteristic triad (convulsion, mental retardation and sebaceous adenoma) to the CT data enabled us to conclude a TSC. The evolution of convulsive seizures was significantly favorable under antiepileptic monotherapy (phenobarbital). On the other hand, mental retardation persists and angiofibromas continue to multiply at the facial level.

 

Figure 1: (Red) angiofibromas of the face (A); Brain CT Scan without injection of iodinated contrast agent (B) showing in axial sections calcified subependymal nodules (blue arrow) with supratentorial seat with bilateral asymmetric involvement and uncalcified cortical tubercles yellow arrow) C) Brain CT Scan with injection of iodinated contrast agent

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 


The Pan African Medical Journal articles are archived on Pubmed Central. Access PAMJ archives on PMC here

Volume 30 (May - August 2018)

Article tools

Navigate this article

Rate this article

Altmetric

PAMJ is a member of the Committee on Publication Ethics
Next abstract

PAMJ is published in collaboration with the African Field Epidemiology Network (AFENET)
Currently tracked by: DOAJ, AIM, Google Scholar, AJOL, EBSCO, Scopus, Embase, IC, HINARI, Global Health, PubMed Central, PubMed/Medline, Ulrichsweb, More to come . Member of COPE.

ISSN: 1937-8688. © 2018 - Pan African Medical Journal. All rights reserved