Prenatal Cerebellar Disruptions: Neuroimaging Spectrum of Findings in Correlation with Likely Mechanisms and Etiologies of Injury.

There is increasing evidence that the cerebellum is susceptible to prenatal infections and hemorrhages and that congenital morphologic anomalies of the cerebellum may be caused by disruptive (acquired) causes. Starting from the neuroimaging pattern, this report describes a spectrum of prenatal cerebellar disruptions including cerebellar agenesis, unilateral cerebellar hypoplasia, cerebellar cleft, global cerebellar hypoplasia, and vanishing cerebellum in Chiari type II malformation. The neuroimaging findings, possible causative disruptive events, and clinical features of each disruption are discussed. Recognition of cerebellar disruptions and their differentiation from cerebellar malformations is important in terms of diagnosis, prognosis, and genetic counselling.

[1]  R. Borgatti,et al.  Learning to live without the cerebellum , 2015, Neuroreport.

[2]  S. Jonjić,et al.  Rodent models of congenital cytomegalovirus infection. , 2014, Methods in molecular biology.

[3]  S. Jonjić,et al.  Altered development of the brain after focal herpesvirus infection of the central nervous system , 2008, The Journal of experimental medicine.

[4]  M. Rudelius,et al.  Severe fetal cytomegalovirus infection associated with cerebellar hemorrhage , 2004, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[5]  A. Righini,et al.  Early cerebral lesions in cytomegalovirus infection: prenatal MR imaging. , 2010, Radiology.

[6]  T. Huisman,et al.  Outcome of severe unilateral cerebellar hypoplasia , 2009, Developmental medicine and child neurology.

[7]  D. Lev,et al.  Fatal outcome following foetal cerebellar haemorrhage associated with placental thrombosis. , 2006, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[8]  G. Ishak,et al.  Neuroimaging of pediatric central nervous system cytomegalovirus infection. , 2010, Radiographics : a review publication of the Radiological Society of North America, Inc.

[9]  M. Temmerman,et al.  Prenatal ultrasound and magnetic resonance imaging in fetal varicella syndrome: correlation with pathology findings , 2003, Prenatal diagnosis.

[10]  S. Kollias,et al.  Vanishing cerebellum in myelomeningocoele. , 2002, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[11]  R. Sener Cerebellar agenesis versus vanishing cerebellum in Chiari II malformation. , 1995, Computerized medical imaging and graphics : the official journal of the Computerized Medical Imaging Society.

[12]  A. Barkovich,et al.  A New Pattern of Cerebellar Hemorrhages in Preterm Infants , 1998 .

[13]  T. Huisman,et al.  Neonatal Head Ultrasonography Today: A Powerful Imaging Tool! , 2015, Journal of neuroimaging : official journal of the American Society of Neuroimaging.

[14]  Qing-jun Jiang,et al.  A new case of complete primary cerebellar agenesis: clinical and imaging findings in a living patient. , 2015, Brain : a journal of neurology.

[15]  R. Rudigoz,et al.  Complete cerebellar agenesis: a very rare abnormality of the posterior fossa , 2009, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[16]  William B Dobyns,et al.  Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption , 2013, American journal of medical genetics. Part A.

[17]  E. Guzman,et al.  Prenatal sonographic appearance of hemorrhagic cerebellar infarction. , 1998, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

[18]  W. O. Renier,et al.  Development and developmental disorders of the human cerebellum , 2003, Journal of Neurology.

[19]  Subtotal agenesis of the cerebellum in an adult , 2004, Neuroradiology.

[20]  P. Heutink,et al.  Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly , 2005, Science.

[21]  B. Harris,et al.  Cerebellar Loss and Brain-Stem Atrophy Associated with Neonatal Alloimmune Thrombocytopenia in a Discordant Twin , 2007, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[22]  D. Ben-Bashat,et al.  Evidence of a developmental cerebello-cerebral disorder , 2006, Neuropsychologia.

[23]  R. Genesio,et al.  Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome. , 2006, Acta paediatrica.

[24]  L. D. de Vries,et al.  Neuro-Imaging Findings in Infants with Congenital Cytomegalovirus Infection: Relation to Trimester of Infection , 2015, Neonatology.

[25]  C. Pierson,et al.  Cerebellar hemorrhagic injury in premature infants occurs during a vulnerable developmental period and is associated with wider neuropathology , 2013, Acta Neuropathologica Communications.

[26]  E. Brett,et al.  Moebius' syndrome with unilateral cerebellar hypoplasia. , 1989, Journal of medical genetics.

[27]  F. Cowan,et al.  Cerebellar cleft: confirmation of the neuroimaging pattern. , 2009, Neuropediatrics.

[28]  F. Cowan,et al.  Cerebellar cleft: a form of prenatal cerebellar disruption. , 2008, Neuropediatrics.

[29]  J. Schmahmann,et al.  The cerebellar cognitive affective syndrome. , 1998, Brain : a journal of neurology.

[30]  L. Geerts,et al.  Congenital rubella with agenesis of the inferior cerebellar vermis and total anomalous pulmonary venous drainage , 2013, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[31]  E. Boltshauser,et al.  Unilateral cerebellar aplasia. , 1996, Neuropediatrics.

[32]  C. Garel,et al.  Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis , 2014, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[33]  S. Soong,et al.  Neurodevelopmental outcomes following ganciclovir therapy in symptomatic congenital cytomegalovirus infections involving the central nervous system. , 2009, Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology.

[34]  S. Takikita,et al.  Experimental schizencephaly induced by Kilham strain of mumps virus: pathogenesis of cleft formation. , 1999, Neuroreport.

[35]  G. Demmler-Harrison,et al.  Central nervous system disorders in infants with congenital cytomegalovirus infection , 2010, Neurological research.

[36]  K. Yokochi,et al.  Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly , 2013, Annals of neurology.

[37]  N. Kocer,et al.  Unilateral Cerebellar Hypoplasia with Different Clinical Features , 2011, The Cerebellum.

[38]  M. Johnston,et al.  Cerebellar agenesis: An extreme form of cerebellar disruption in preterm neonates , 2013, Journal of Pediatric Neuroradiology.

[39]  D. Prayer,et al.  Morphological spectrum of prenatal cerebellar disruptions. , 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[40]  J. Opitz,et al.  Elements of morphology: General terms for congenital anomalies , 2013, American journal of medical genetics. Part A.

[41]  G. Gorincour,et al.  Fetal magnetic resonance imaging in the prenatal diagnosis of cerebellar hemorrhage , 2005, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[42]  D. Milford,et al.  Cerebellar defect associated with Schimke immuno-osseous dysplasia , 2001, European Journal of Pediatrics.

[43]  J. Volpe,et al.  Cerebellar Hemorrhage in the Preterm Infant: Ultrasonographic Findings and Risk Factors , 2005, Pediatrics.

[44]  A. Poretti,et al.  Terminology in morphological anomalies of the cerebellum does matter , 2015, Cerebellum & Ataxias.

[45]  T. Huisman,et al.  Prenatal cerebellar hemorrhage: fetal and postnatal neuroimaging findings and postnatal outcome. , 2015, Pediatric neurology.

[46]  A. Munnich,et al.  Posterior fossa imaging in 158 children with ataxia. , 2010, Journal of neuroradiology. Journal de neuroradiologie.

[47]  R. Manara,et al.  Brain magnetic resonance findings in symptomatic congenital cytomegalovirus infection , 2011, Pediatric Radiology.

[48]  J. Dudink,et al.  The clinical presentation of preterm cerebellar haemorrhage , 2010, European Journal of Pediatrics.

[49]  L. Ramenghi,et al.  From germinal matrix to cerebellar haemorrhage , 2015, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

[50]  D. Kidron,et al.  Prenatal diagnosis of fetal cerebellar lesions: a case report and review of the literature , 1999, Prenatal diagnosis.

[51]  F. Barkhof,et al.  Fetal Origin of Brain Damage in 2 Infants with a COL4A1 Mutation: Fetal and Neonatal MRI , 2011, Neuropediatrics.

[52]  R. Achiron,et al.  Sonographic detection of fetal cerebellar cavernous hemangioma with in‐utero hemorrhage leading to cerebellar hemihypoplasia , 2006, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[53]  A. Hattersley,et al.  Mutations in PTF1A cause pancreatic and cerebellar agenesis , 2004, Nature Genetics.

[54]  S. Marino,et al.  A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study , 2015, Brain Imaging and Behavior.

[55]  L. D. de Vries,et al.  The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection. , 2004, Neuropediatrics.

[56]  J. Volpe Cerebellum of the Premature Infant: Rapidly Developing, Vulnerable, Clinically Important , 2009, Journal of child neurology.

[57]  D. Timmann,et al.  Cerebellar agenesis II: Motor and language functions , 2005, Neurocase.

[58]  E. Boltshauser,et al.  Late intrauterine Cytomegalovirus infection: clinical and neuroimaging findings. , 1996, Pediatric neurology.

[59]  A. Poretti,et al.  Cerebellar hypoplasia: Differential diagnosis and diagnostic approach , 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

[60]  R. Barini,et al.  Prenatal diagnosis of isolated fetal cerebellar hemorrhage associated with maternal septic shock , 2009, Prenatal diagnosis.

[61]  G. Bifulco,et al.  Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum , 2004, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[62]  G. Shaw,et al.  Schizencephaly: Heterogeneous etiologies in a population of 4 million California births , 2005, American journal of medical genetics. Part A.

[63]  A. Yüksel,et al.  Fetal cerebellar hemorrhage in a severely growth‐restricted fetus: natural history and differential diagnosis from Dandy–Walker malformation , 2003, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[64]  D. Lev,et al.  The fetal cerebellum. Pitfalls in diagnosis and management , 2009, Prenatal diagnosis.

[65]  O. S. Strong A case of unilateral cerebellar agenesia , 1915 .

[66]  T. Butts,et al.  Development of the cerebellum: simple steps to make a ‘little brain’ , 2014, Development.

[67]  T. Huisman,et al.  Susceptibility‐weighted imaging in pediatric neuroimaging , 2014, Journal of magnetic resonance imaging : JMRI.

[68]  D. Martinez,et al.  Case report: cerebellar hemi‐hypoplasia , 1998, Prenatal diagnosis.