Sudden unexpected death in childhood associated with cardiac rhabdomyoma, involuting adrenal ganglioneuroma, and megalencephaly: another expression of tuberous sclerosis?

Pediatr Dev Pathol. 2007 Mar-Apr;10(2):129-33. doi: 10.2350/06-04-0081.1.

Abstract

We report a 9-year-old, previously healthy girl who died suddenly and unexpectedly and was found at postmortem examination to have a cardiac rhabdomyoma, megalencephaly, and an involuting adrenal ganglioneuroma. Her death was possibly caused by a fatal cardiac arrhythmia resulting from interference of the ventricular septal rhabdomyoma with the cardiac conduction fibers. Her extended family history included a variety of disorders, including cleft lip and palate and ill-defined cardiac and neurologic diseases. The constellation of her autopsy findings suggested a diagnosis of tuberous sclerosis, for which there are gene defects that can be identified in surviving family members.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Glands / pathology*
  • Brain / abnormalities*
  • Brain / pathology
  • Child
  • Death, Sudden*
  • Female
  • Ganglioneuroma / pathology*
  • Heart Neoplasms / pathology*
  • Humans
  • Rhabdomyoma / pathology*
  • Tuberous Sclerosis / diagnosis*
  • Tuberous Sclerosis / genetics