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

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

› Institutsangaben

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

Volltext

Referenzen

References
1 Barkovich AJ, Millen KJ, Dobyns WB. A developmental and genetic classification for midbrain-hindbrain malformations. Brain 2009; 132 (Pt 12): 3199-3230
2 Okumura A, Lee T, Shimojima K , et al. Brainstem disconnection associated with nodular heterotopia and proatlantal arteries. Am J Med Genet A 2009; 149A (11) 2479-2483
3 Mamourian AC, Miller G. Neonatal pontomedullary disconnection with aplasia or destruction of the lower brain stem: a case of pontoneocerebellar hypoplasia?. AJNR Am J Neuroradiol 1994; 15 (8) 1483-1485
4 Sarnat HB, Benjamin DR, Siebert JR, Kletter GB, Cheyette SR. Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene—report of 2 cases in early infancy. Pediatr Dev Pathol 2002; 5 (1) 54-68
5 Bednarek N, Scavarda D, Mesmin F, Sabouraud P, Motte J, Morville P. Midbrain disconnection: an aetiology of severe central neonatal hypotonia. Eur J Paediatr Neurol 2005; 9 (6) 419-422
6 McCann E, Pilling D, Hesseling M, Roberts D, Subhedar N, Sweeney E. Pontomedullary disconnection: fetal and neonatal considerations. Pediatr Radiol 2005; 35 (8) 812-814
7 Poretti A, Boltshauser E, Plecko B. Brainstem disconnection: case report and review of the literature. Neuropediatrics 2007; 38 (4) 210-212
8 Barth PG, de Vries LS, Nikkels PG, Troost D. Congenital brainstem disconnection associated with a syrinx of the brainstem. Neuropediatrics 2008; 39 (1) 1-7
9 Duffield C, Jocson J, Wootton-Gorges SL. Brainstem disconnection. Pediatr Radiol 2009; 39 (12) 1357-1360
10 Jurkiewicz E, Dobrzańska A, Nowak K, Pleskaczyńska A. MRI findings in the young infant with brainstem disconnection and extracerebral features. Report of one case and review of the literature. Brain Dev 2010; 32 (6) 495-498
11 Agarwal R, Mehta C, Kumar A, Maqbool M. Brainstem disconnection in a patient with fetal alcohol syndrome. Pediatr Neurol 2014; 51 (2) 282-283
12 Carr JR, Brandon J, Ross B, Bryant SO. Fetal MRI diagnosis of brainstem disconnection with novel inner ear anomalies. Prenat Diagn 2014; 34 (10) 1018-1021
13 Yigazu P, Kalra V, Altinok D. Brainstem disconnection in a late preterm neonate with classic features of fetal alcohol syndrome. Pediatr Neurol 2014; 51 (5) 745-746
14 Kuemerle B, Zanjani H, Joyner A, Herrup K. Pattern deformities and cell loss in Engrailed-2 mutant mice suggest two separate patterning events during cerebellar development. J Neurosci 1997; 17 (20) 7881-7889
15 Wassef M, Joyner AL. Early mesencephalon/metencephalon patterning and development of the cerebellum. Perspect Dev Neurobiol 1997; 5 (1) 3-16
16 Mark M, Lufkin T, Vonesch JL , et al. Two rhombomeres are altered in Hoxa-1 mutant mice. Development 1993; 119 (2) 319-338
17 Lumsden A. Segmentation and compartition in the early avian hindbrain. Mech Dev 2004; 121 (9) 1081-1088
18 Aldinger KA, Elsen GE, Prince VE, Millen KJ. Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain. Semin Pediatr Neurol 2009; 16 (3) 155-163