Brainstem disconnection: Two additional patients and expansion of the phenotype

Andrea Poretti, Jonas Denecke, Douglas C. Miller, Holger Schiffmann, Jan Hendrik Buhk, Dorothy K. Grange, Dan Doherty, Eugen Boltshauser

Research output: Contribution to journalArticlepeer-review

Abstract

Brainstem disconnection (BD) is a rare posterior fossa abnormality defined by the nearly complete absence of a brainstem segment with the rostral and caudal brainstem portions connected only by a thin cord of tissue. The outcome is poor and the majority of children die within the first 2 months of life without achieving developmental milestones. We report on the cases of two children with BD and a prolonged spontaneous survival. Neither patient required intubation or mechanical ventilation and each survived longer than 2 months (one child died at the age of 8 months, the other is alive at the age of 4.5 years). In addition, patient 1 is the only child with BD reported so far who achieved some developmental milestones. Although the long-term neurodevelopmental outcome of BD remains unfavorable, the expansion of the phenotypic spectrum may be important in terms of counseling.

Original languageEnglish (US)
Pages (from-to)139-144
Number of pages6
JournalNeuropediatrics
Volume46
Issue number2
DOIs
StatePublished - Feb 4 2015

Keywords

  • brainstem
  • brainstem disconnection
  • brainstem malformation
  • neonates
  • neuroimaging
  • outcome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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