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Tuberous sclerosis

2005-10-24-11 Heron Werner, MD*, Pedro Daltro, MD*, Dorothy Bulas, MD# * Clínica de Diagnóstico por Imagem (CDPI) & Instituto Fernandes Figueira (IFF) – FIOCRUZ – Rio de Janeiro – Brazil
# Professor of Radiology and Pediatrics – Children"s National Medical Center – George Washington University Medical Center – 111 Michigan Ave, NW, Washington D.C. 20010

Tuberous sclerosis consists in the development of hamartomatous lesions in several tissues, especially brain, skin, heart and kidneys. It presents an autosomal dominant inheritance, although most cases represents new mutations in non-affected families.

Fetal cardiac tumors (rhabdomyomas) constitute the main abnormality visualized by prenatal ultrasound. Such tumors are echogenic masses in the heart. They are localized in the ventricle walls, protruding into the cardiac cavity. Around 50 percent of fetuses with rhabdomyomas have tuberous sclerosis. The prognosis of cardiac rhabdomyomas is good, mostly with postnatal involution. However, the diagnosis of intrauterine tuberous sclerosis, which is only possible by MRI complementation, changes the fetal prognosis completely. This is due to the increasing frequency of mental retardation and convulsions (80 percent) (Mirlesse, 1992).

Werner et al. (1994) analyzed two cases of fetuses with cardiac rhabdomyoma that were diagnosed by a routine ultrasound examination in the third trimester of gestation. Both fetuses were later examined by MRI, which pinpointed cortical and subependymal hamartomas in the walls of the lateral ventricles of the brain, a suggestion of tuberous sclerosis.

Table 1: Main aspects of Tuberous Sclerosis
Classic triad (< 50% of cases):
  • facial lesions,
  • convulsions and
  • mental retardation
Central Nervous System
  • cortical hamartomas
  • lesion of white substance*
  • subependymal hamartomas (95%)
  • typical localization: alongside lateral ventricles walls
Astrocytoma of subependymal giant cells*
  • localization: foramen of Monro
  • obstructive hydrocephaly
Kidney:
  • cysts
  • angiolipoma
Cardiovascular:
  • rhabdomyoma
  • aneurysm, stenosis and vascular ectopic
Liver:
  • leiomyoma
  • adenoma
* There are no reports on intrauterine visualization

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