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)

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.


 
  • References

  • 1 Bosemani T, Orman G, Boltshauser E, Tekes A, Huisman TA, Poretti A. Congenital abnormalities of the posterior fossa. Radiographics 2015; 35 (01) 200-220
  • 2 Reardon W, Donnai D. Dysmorphology demystified. Arch Dis Child Fetal Neonatal Ed 2007; 92 (03) F225-F229
  • 3 Hennekam RC, Biesecker LG, Allanson JE. , et al; Elements of Morphology Consortium. Elements of morphology: general terms for congenital anomalies. Am J Med Genet A 2013; 161A (11) 2726-2733
  • 4 Vermeulen RJ, Peeters-Scholte C, Van Vugt JJ. , et al. Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI. Neuropediatrics 2011; 42 (01) 1-3
  • 5 Yoneda Y, Haginoya K, Kato M. , et al. Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann Neurol 2013; 73 (01) 48-57
  • 6 Eshuis-Peters E, Versluys AB, Stokman MF, van der Crabben SN, Nij Bijvank SW, van Wezel-Meijler G. Congenital amegakaryocytic thrombocytopenia type II presenting with multiple central nervous system anomalies. Neuropediatrics 2016; 47 (02) 128-131
  • 7 Himmelmann K, Horber V, De La Cruz J. , et al; SCPE Working Group. MRI classification system (MRICS) for children with cerebral palsy: development, reliability, and recommendations. Dev Med Child Neurol 2017; 59 (01) 57-64
  • 8 Nabavizadeh SA, Zarnow D, Bilaniuk LT, Schwartz ES, Zimmerman RA, Vossough A. Correlation of prenatal and postnatal MRI findings in schizencephaly. AJNR Am J Neuroradiol 2014; 35 (07) 1418-1424
  • 9 Boltshauser E, Schneider J, Kollias S, Waibel P, Weissert M. Vanishing cerebellum in myelomeningocoele. Eur J Paediatr Neurol 2002; 6 (02) 109-113
  • 10 Poretti A, Leventer RJ, Cowan FM. , et al. Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics 2008; 39 (02) 106-112
  • 11 Poretti A, Prayer D, Boltshauser E. Morphological spectrum of prenatal cerebellar disruptions. Eur J Paediatr Neurol 2009; 13 (05) 397-407
  • 12 Poretti A, Limperopoulos C, Roulet-Perez E. , et al. Outcome of severe unilateral cerebellar hypoplasia. Dev Med Child Neurol 2010; 52 (08) 718-724
  • 13 Boltshauser E, Scheer I, Huisman TA, Poretti A. Cerebellar cysts in children: a pattern recognition approach. Cerebellum 2015; 14 (03) 308-316
  • 14 Bosemani T, Poretti A, Huisman TA. Susceptibility-weighted imaging in pediatric neuroimaging. J Magn Reson Imaging 2014; 40 (03) 530-544
  • 15 Barth PG, Majoie CB, Caan MW. , et al. Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. Brain 2007; 130 (Pt 9): 2258-2266
  • 16 Harding B, Vossough A, Goldberg E, Santi M. Pontine tegmental cap dysplasia: neuropathological confirmation of a rare clinical/radiological syndrome. Neuropathol Appl Neurobiol 2016; 42 (03) 301-306
  • 17 Rossi A, Catala M, Biancheri R, Di Comite R, Tortori-Donati P. MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis. AJNR Am J Neuroradiol 2004; 25 (06) 1046-1048
  • 18 Severino M, Tortora D, Pistorio A. , et al. Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction. Neuroradiology 2016; 58 (01) 33-44
  • 19 Bahi-Buisson N, Poirier K, Fourniol F. , et al; LIS-Tubulinopathies Consortium. The wide spectrum of tubulinopathies: what are the key features for the diagnosis?. Brain 2014; 137 (Pt 6): 1676-1700
  • 20 Poretti A, Denecke J, Miller DC. , et al. Brainstem disconnection: two additional patients and expansion of the phenotype. Neuropediatrics 2015; 46 (02) 139-144
  • 21 Barth PG, Aronica E, Fox S. , et al. Deregulated expression of EZH2 in congenital brainstem disconnection. Neuropathol Appl Neurobiol 2016; (e-pub ahead of print) DOI: 10.1111/nan.12368.
  • 22 Verstraelen H, Vanzieleghem B, Defoort P, Vanhaesebrouck P, Temmerman M. Prenatal ultrasound and magnetic resonance imaging in fetal varicella syndrome: correlation with pathology findings. Prenat Diagn 2003; 23 (09) 705-709
  • 23 Malinger G, Lev D, Lerman-Sagie T. Imaging of fetal cytomegalovirus infection. Fetal Diagn Ther 2011; 29 (02) 117-126
  • 24 Nickerson JP, Richner B, Santy K. , et al. Neuroimaging of pediatric intracranial infection--part 2: TORCH, viral, fungal, and parasitic infections. J Neuroimaging 2012; 22 (02) e52-e63
  • 25 Norman AL, Crocker N, Mattson SN, Riley EP. Neuroimaging and fetal alcohol spectrum disorders. Dev Disabil Res Rev 2009; 15 (03) 209-217
  • 26 Merlini L, Fluss J, Dhouib A, Vargas MI, Becker M. Mid-hindbrain malformations due to drugs taken during pregnancy. J Child Neurol 2014; 29 (04) 538-544
  • 27 Boix H, Ortega-Aznar A, Vazquez E, Salcedo S, Roig-Quilis M. Brainstem dysgenesis in an infant prenatally exposed to cocaine. Pediatr Neurol 2010; 42 (04) 295-297
  • 28 Volpe JJ. Cerebellum of the premature infant: rapidly developing, vulnerable, clinically important. J Child Neurol 2009; 24 (09) 1085-1104
  • 29 Martino F, Malova M, Cesaretti C. , et al. Prenatal MR imaging features of isolated cerebellar haemorrhagic lesions. Eur Radiol 2016; 26 (08) 2685-2696