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 journalArticle

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

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Brain Stem
Phenotype
Only Child
Artificial Respiration
Intubation
Counseling
Survival

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Poretti, A., Denecke, J., Miller, D. C., Schiffmann, H., Buhk, J. H., Grange, D. K., ... Boltshauser, E. (2015). Brainstem disconnection: Two additional patients and expansion of the phenotype. Neuropediatrics, 46(2), 139-144. https://doi.org/10.1055/s-0034-1544127

Brainstem disconnection : Two additional patients and expansion of the phenotype. / Poretti, Andrea; Denecke, Jonas; Miller, Douglas C.; Schiffmann, Holger; Buhk, Jan Hendrik; Grange, Dorothy K.; Doherty, Dan; Boltshauser, Eugen.

In: Neuropediatrics, Vol. 46, No. 2, 04.02.2015, p. 139-144.

Research output: Contribution to journalArticle

Poretti, A, Denecke, J, Miller, DC, Schiffmann, H, Buhk, JH, Grange, DK, Doherty, D & Boltshauser, E 2015, 'Brainstem disconnection: Two additional patients and expansion of the phenotype', Neuropediatrics, vol. 46, no. 2, pp. 139-144. https://doi.org/10.1055/s-0034-1544127
Poretti A, Denecke J, Miller DC, Schiffmann H, Buhk JH, Grange DK et al. Brainstem disconnection: Two additional patients and expansion of the phenotype. Neuropediatrics. 2015 Feb 4;46(2):139-144. https://doi.org/10.1055/s-0034-1544127
Poretti, Andrea ; Denecke, Jonas ; Miller, Douglas C. ; Schiffmann, Holger ; Buhk, Jan Hendrik ; Grange, Dorothy K. ; Doherty, Dan ; Boltshauser, Eugen. / Brainstem disconnection : Two additional patients and expansion of the phenotype. In: Neuropediatrics. 2015 ; Vol. 46, No. 2. pp. 139-144.
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