Tuberous sclerosis complex : Case report. Arch Venez Puer Ped [online]. ISSN The tuberous sclerosis complex TSC is a multisystemic disease, autosomic dominant, characterized by a variety of clinical manifestations.
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Tuberous sclerosis complex : Case report. Arch Venez Puer Ped [online]. ISSN The tuberous sclerosis complex TSC is a multisystemic disease, autosomic dominant, characterized by a variety of clinical manifestations. Eighty five percent of children with this disease present neurological manifestations which, due to their severity, are the main cause of mortality. Objectives : To report the clinical course of a 3 month old infant male, diagnosed with tuberous sclerosis and to review the most relevant aspects of this congenital disease.
Case-Report : This is a 3 month old infant, referred because of a cardiac rhabdomyoma disgnosed in a perinatal ultrasound. The brain MRI showed subependymal nodules adjacent to the frontal horn of the lateral ventricle. Conclusion : Tuberous sclerosis may cause a variety of clinical manifestations, and therefore requires early diagnosis to ensure the quality of life of these patients through multidisciplinary intervention by the entire health team.
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Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. Although significant advances have been made in the past 15 years in the understanding and treatment of tuberous sclerosis complex, current clinical diagnostic criteria have not been critically evaluated or updated since the last clinical consensus conference in METHODS: The International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists from 14 countries, was organized into 12 subcommittees, each led by a clinician with advanced expertise in tuberous sclerosis complex and the relevant medical subspecialty. Each subcommittee focused on a specific disease area with important diagnostic implications and was charged with reviewing prevalence and specificity of diseaseassociated clinical findings and their impact on suspecting and confirming the diagnosis of tuberous sclerosis complex. Key changes compared with criteria are the new inclusion of genetic testing results and reducing diagnostic classes from three possible, probable, and definite to two possible, definite. Additional minor changes to specific criterion were made for additional clarification and simplification.
[Recommendations for the Multidisciplinary Management of Tuberous Sclerosis Complex]
Actualización de los criterios diagnósticos del complejo esclerosis tuberosa
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