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Abstract
RÉSUMÉ
La sclérose tubéreuse de Bourneville (STB) est une affection autosomique dominante rare, liée au développement multi systémique d’hématomes, l’association des lésions cérébrales, cardiaques, rénales et cutanées est fortement évocatrice du diagnostic, surtout en période infantile. Le pronostic cognitif et comportement est amélioré par le contrôle des spasmes. Nous rapportons l’observation d’un enfant âgé de 6 ans, issu d’un mariage non consanguin, présentant une STB, découverte fortuitement lors d’un examen radiologique pour traumatisme crânien avec perte de connaissance initiale, effectué au service de Radiologie et Imagerie Médicale, CHU GT de Bamako. Le but du travail est d’illustrer la place de la radiologie dans le diagnostic de la STB.
ABSTRACT
Tuberous sclerosis of Bourneville (TSB) is a rare autosomal dominant disorder, linked to the multi-systemic development of hematomas. The association of cerebral, cardiac, renal and cutaneous lesions is highly suggestive of the diagnosis, especially in infancy. Cognitive and behavioral prognosis is improved by spasm control. We report the case of a 6-year-old child from a non-consanguineous marriage, presenting with BTS, discovered incidentally during a radiological examination for head trauma with initial loss of consciousness, carried out at the Radiology and Medical Imaging Department, CHU GT, Bamako. The aim of this work is to illustrate the role of radiology in the diagnosis of STB.
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References
- Piquet A, Cuisset JM, Cuvellier, JC, et al (2010) Characteristics of tuberous in children. Arch Pediatr 17:1338-45
- Northrup H, Kay Koenig M, Pearson DA, Au KS (2018) Tuberous sclerosis complex synonym: Boureneville disease. Gene Reviews
- Karine L, Portocarrero L, Quental KN, et al (2018) Tuberous sclerosis complex : neview based on new diagnostic criteria. An Bras Dermatol 93:323-31
- Northup H, Krueger DA; International Tuberous Sclerosis Complex Cionsensus Group (2013) TuberousSclerosis complex diagnostic criteria update: recommendations df the 2012 International Tuberous Sclerosis Complex Consensus Conference.
- Goh S, Kwiatkowski DJ, Dorer DJ, Thiele EA (2005) Infantile spasms and intellectual outcomes in children with tuberous scleris complex.Neurology 65:235-8
- Chih-Ping C, Yi-Ning S, Chin-Yuan H, et al (2011) Prenatal diagnosis of cerebral tubers by magnetic resonance imaging following detection of cardiac rhabdomyomas by prenatal ultrasound in a fetus with a nonsense mutation in the TSC2 gene. J Med Ultrasound 19:68-70
- Robert B, Prakash A, A, Robb L (2014) Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommandations from Cardiovascular maniifestations of tuberous scleris complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group. J Am Heart Assoc 3(6):1-11
- Amin S, Lux A, Calder N, et al (2017) Causes of mortality in individuals with tuberous sclerosis complex. Dev Med Child Neurol 59:612-7
- Kim KP, Kim S, Na KA, et al (2019) Severe hypocalcemia in a patient with tuberous sclerosis complex. Electrolyte Blood Press 17:21-4
- Roach ES, Gomez MR, Northrup H (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic critria. J Child Neurol 13:624-8
- F. TRUCHOT, N. STOCK, J. GARNIER, D. COURTEL, F. LE GALL, G. DE MELLO. Sclérose tub”reuse de Bourneville. Revue de littérature et présentation d’un cas clinique. Actualités Odonto-Stomatologies 2007 ; 239 : 289-303
- Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group (2013) Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
References
Piquet A, Cuisset JM, Cuvellier, JC, et al (2010) Characteristics of tuberous in children. Arch Pediatr 17:1338-45
Northrup H, Kay Koenig M, Pearson DA, Au KS (2018) Tuberous sclerosis complex synonym: Boureneville disease. Gene Reviews
Karine L, Portocarrero L, Quental KN, et al (2018) Tuberous sclerosis complex : neview based on new diagnostic criteria. An Bras Dermatol 93:323-31
Northup H, Krueger DA; International Tuberous Sclerosis Complex Cionsensus Group (2013) TuberousSclerosis complex diagnostic criteria update: recommendations df the 2012 International Tuberous Sclerosis Complex Consensus Conference.
Goh S, Kwiatkowski DJ, Dorer DJ, Thiele EA (2005) Infantile spasms and intellectual outcomes in children with tuberous scleris complex.Neurology 65:235-8
Chih-Ping C, Yi-Ning S, Chin-Yuan H, et al (2011) Prenatal diagnosis of cerebral tubers by magnetic resonance imaging following detection of cardiac rhabdomyomas by prenatal ultrasound in a fetus with a nonsense mutation in the TSC2 gene. J Med Ultrasound 19:68-70
Robert B, Prakash A, A, Robb L (2014) Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommandations from Cardiovascular maniifestations of tuberous scleris complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group. J Am Heart Assoc 3(6):1-11
Amin S, Lux A, Calder N, et al (2017) Causes of mortality in individuals with tuberous sclerosis complex. Dev Med Child Neurol 59:612-7
Kim KP, Kim S, Na KA, et al (2019) Severe hypocalcemia in a patient with tuberous sclerosis complex. Electrolyte Blood Press 17:21-4
Roach ES, Gomez MR, Northrup H (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic critria. J Child Neurol 13:624-8
F. TRUCHOT, N. STOCK, J. GARNIER, D. COURTEL, F. LE GALL, G. DE MELLO. Sclérose tub”reuse de Bourneville. Revue de littérature et présentation d’un cas clinique. Actualités Odonto-Stomatologies 2007 ; 239 : 289-303
Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group (2013) Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference