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

doi:10.1055/s-0034-1544127

Neuropediatrics, Inhaltsverzeichnis

Neuropediatrics 2015; 46(02): 139-144
DOI: 10.1055/s-0034-1544127

Short Communication

Georg Thieme Verlag KG Stuttgart · New York

Brainstem Disconnection: Two Additional Patients and Expansion of the Phenotype

Autoren

Andrea Poretti

¹Section 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

²Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland
Jonas Denecke

³Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Douglas C. Miller

⁴Department of Pathology and Anatomical Sciences, University of Missouri School of Medicine, Columbia, Missouri, United States
Holger Schiffmann

⁵Department of Pediatrics, Paracelsus Medical University, Nuremberg, Germany
Jan Hendrik Buhk

⁶Department of Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Dorothy K. Grange

⁷Division of Medical Genetics, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, United States
Dan Doherty

⁸Divisions of Developmental and Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, Washington, United States
Eugen Boltshauser

²Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland

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.

Keywords

brainstem - brainstem disconnection - brainstem malformation - neuroimaging - neonates - outcome

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Referenzen

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