title: Brainstem disconnection: two additional patients and expansion of the phenotype.
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.
authors: Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States.
authors: Andrea
authors: A
authors: Poretti
authors: Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors: Jonas
authors: J
authors: Denecke
authors: Department of Pathology and Anatomical Sciences, University of Missouri School of Medicine, Columbia, Missouri, United States.
authors: Douglas C
authors: DC
authors: Miller
authors: Department of Pediatrics, Paracelsus Medical University, Nuremberg, Germany.
authors: Holger
authors: H
authors: Schiffmann
authors: Department of Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors: Jan Hendrik
authors: JH
authors: Buhk
authors: Division of Medical Genetics, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, United States.
authors: Dorothy K
authors: DK
authors: Grange
authors: Divisions of Developmental and Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, Washington, United States.
authors: Dan
authors: D
authors: Doherty
authors: Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.
authors: Eugen
authors: E
authors: Boltshauser
mesh_terms: D001933:Brain Stem / Q000002:abnormalities* / Q000473:pathology*; D002675:Child, Preschool; D003388:Cranial Fossa, Posterior / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D010641:Phenotype