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Acute necrotizing encephalopathy in 3 brothers

Elysa J Marco1, Jane E Anderson, Derek E Neilson

  • 1University of California, 350 Parnassus Ave, Box 0137, San Francisco, CA 94143-0137, USA. marcoe@neuropeds.ucsf.edu

Pediatrics
|February 10, 2010
PubMed

Insights

Familial acute necrotizing encephalopathy (ANE) linked to RANBP2 mutations can recur in male siblings. Early aggressive treatment may improve outcomes for this rare, devastating neurologic disorder.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Acute necrotizing encephalopathy (ANE) is a severe neurologic disorder typically affecting children post-viral infection.
  • While usually sporadic, familial cases (ANE1) and recurrences have been associated with RANBP2 gene mutations.

Observation:

  • This study details a kindred with recurrent familial ANE affecting multiple male siblings, including twins.
  • All affected siblings presented with typical ANE symptoms following viral prodromes, progressing to seizures, coma, and death.

Findings:

  • The affected siblings, offspring of consanguineous parents, exhibited a consistent, fatal ANE course.
  • One sibling, treated aggressively with corticosteroids, survived for five years, suggesting potential therapeutic benefit.

Implications:

  • This case highlights the genetic basis and recurrent nature of ANE in specific families.
  • Increased awareness and early intervention may improve the prognosis for familial ANE, a condition with high mortality.

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