Resumen

MORENO APONTE, Nigerma B; TAMAYO CAMPOS, Joselic; MORENO APONTE, Nigeria  y  MATERAN RAMIREZ, Mariana. Tuberous sclerosis complex: Case report. Arch Venez Puer Ped [online]. 2012, vol.75, n.4, pp.121-125. ISSN 0004-0649.

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. Cardiac rhabdomyomas occur in 66% of newborns and mucocutaneous lesions in 100%. This disease is caused by mutations in the TSC1 gene of chromosome 9q34 and TSC2 of chromosome 16p13.3. It is inherited as an autosomic dominant trait, but 60% -70% of cases are sporadic and represent new mutations. The prevalence of this disease varies from 1/6000 to 1/10000 live births. 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. Dermatological evaluation with Wood’s lamp revealed ash-leaf macules consistent with neurocutaneous disease. 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.

Palabras clave : Complejo Esclerosis tuberosa; Rabdomioma; Síndrome neurocutáneo; Tuberous Sclerosis Complex; Rhabdomyoma; Neurocutaneous syndrome.

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