Sudden unexpected death in childhood associated with cardiac rhabdomyoma, involuting adrenal ganglioneuroma, and megalencephaly: another expression of tuberous sclerosis?
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.
Masoumi
Homeyra
H
Rady Children's Hospital and Health Center, San Diego, CA, USA.
Kinney
Hannah C
HC
Chadwick
Amy E
AE
Rubio
Ana
A
Krous
Henry F
HF
D000311:Adrenal Glands / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D003645:Death, Sudden; D005260:Female; D005729:Ganglioneuroma / Q000473:pathology*; D006338:Heart Neoplasms / Q000473:pathology*; D006801:Humans; D012207:Rhabdomyoma / Q000473:pathology*; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000235:genetics