Neuropediatrics 2017; 48(05): 350-355
DOI: 10.1055/s-0037-1603516
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Prenatal Brainstem Disruptions: Small Lesions–Big Problems[*]

Eugen Boltshauser
1   Department of Pediatric Neurology, University Children's Hospital, Zürich, Switzerland
,
Florian Bauder
2   Division of Pediatric Neurology, Children's Hospital, Lucerne, Switzerland
,
Miriam Giarrana
1   Department of Pediatric Neurology, University Children's Hospital, Zürich, Switzerland
,
Anette Hackenberg
1   Department of Pediatric Neurology, University Children's Hospital, Zürich, Switzerland
,
Sébastien Lebon
3   Pediatric Neurology and Neurorehabilitation Unit, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
,
Eliane Roulet-Perez
3   Pediatric Neurology and Neurorehabilitation Unit, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
,
Regula Schmid
4   Division of Pediatric Neurology, Children's Hospital, Winterthur, Switzerland
,
Thomas Schmitt-Mechelke
2   Division of Pediatric Neurology, Children's Hospital, Lucerne, Switzerland
,
Andrea Poretti
5   Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
6   Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, United States
› Author Affiliations
Further Information

Publication History

03 March 2017

12 April 2017

Publication Date:
01 June 2017 (online)

Preview

Abstract

Prenatal disruptive injuries within one or both cerebellar hemispheres, which are mostly caused by hemorrhages, are well known. Primary disruptive lesions of the brainstem, however, are exceptional. Here we report on clinical and neuroimaging findings, as well as outcome of four male infants with prenatal brainstem disruptions that have been seen between 2005 and 2015. Two infants with extensive brainstem defects (from the midbrain to the medulla) had respiratory insufficiency and died at the age of 12 weeks and 22 months, respectively. Two patients had smaller, unilateral/asymmetrical lesions in the pontomesencephalic and medullary regions, respectively, and presented with permanent multiple cranial nerve deficits and long-tract signs. Recognition of prenatal brainstem disruptions and distinction from malformations are essential for the management and the estimation of a recurrence risk.

* This article is dedicated to the memory of Dr. Andrea Poretti who died unexpectedly following submission of this manuscript.