Neuropediatrics 2015; 46 - PS01-28
DOI: 10.1055/s-0035-1550695

Brain Stem Disconnection: Two Additional Patients and Expansion of the Phenotype

A. Poretti 1, A. Poretti 2, J. Denecke 3, D. Miller 4, H. Schiffmann 5, J. Buhk 6, D. Grange 7, D. Doherty 8, E. Boltshauser 1
  • 1Abteilung für Neuropädiatrie, Universitäts-Kinderklinik, Zürich, Switzerland
  • 2Russell H. Morgan Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, United States
  • 3Abteilung für Pädiatrie, Universitäts-Klinik, Hamburg-Eppendorf, Germany
  • 4Department of Pathology and Anatomical Sciences, University of Missouri School of Medicine, Columbia, United States
  • 5Abteilung für Pädiatrie, Paracelsus Universität, Nürnberg, Germany
  • 6Abteilung für Diagnostische Neuroradiologie, Universitäts-Klinik, Hamburg-Eppendorf, Germany
  • 7Department of Pediatrics, Washington University School of Medicine, St. Louis, United States
  • 8Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, United States

Introduction: Brain stem disconnection (BD) is a rare posterior fossa abnormality defined by the nearly complete absence of a brain stem segment with the rostral and caudal brain stem portions connected only by a thin cord of tissue. BD has a poor outcome and the majority of children die within the first 2 months of life without achieving developmental milestones. Only 12 children with BD have been reported so far. We report the case of two new patients with BD and a prolonged spontaneous survival to expand the phenotype.

Case Report: In both the children, neuroimaging findings included discontinuity between the upper pons and the medulla and vermian hypoplasia. Neither patient required intubation or mechanical ventilation and each survived longer than 2 months (patient 1 died at 8 months and patient 2 is alive at 4.5 years). Patient 1 is the only child with BD reported so far who achieved some developmental milestones. At the age of 8 months, he was able to hold brief fixation, smiled, looked at an object at near distance, and reached for it. He brought his hands to his mouth and showed some emerging reaching skills. In both the children, temperature instability and seizures were recognized, and extracerebral involvement including hydronephrosis and left ectopic ureter in patient 1 and VACTERL association in patient 2. Whole-exome sequencing in patient 1 and array CGH in patient 2 did not show causative genetic anomalies causative for BD.

Conclusion: Although the long-term neurodevelopmental outcome of BD remains unfavorable, the expansion of the phenotypic spectrum may be important in terms of counseling. The pathogenesis (malformative vs. disruptive) of BD remains unknown.

Keywords: brain stem, MRI, malformation, disruption.