Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

Andrea Poretti, Eugen Boltshauser, Dan Doherty

Research output: Contribution to journalArticlepeer-review

Abstract

Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common, but non-specific neuroimaging finding. The etiological spectrum of CH is wide and includes both primary (malformative) and secondary (disruptive) conditions. Primary conditions include chromosomal aberrations (e.g., trisomy 13 and 18), metabolic disorders (e.g., molybdenum cofactor deficiency, Smith-Lemli-Opitz syndrome, and adenylosuccinase deficiency), genetic syndromes (e.g., Ritscher-Schinzel, Joubert, and CHARGE syndromes), and brain malformations (primary posterior fossa malformations e.g., Dandy-Walker malformation, pontine tegmental cap dysplasia and rhombencephalosynapsis, or global brain malformations such as tubulinopathies and α-dystroglycanopathies). Secondary (disruptive) conditions include prenatal infections (e.g., cytomegalovirus), exposure to teratogens, and extreme prematurity. The distinction between malformations and disruptions is important for pathogenesis and genetic counseling. Neuroimaging provides key information to categorize CH based on the pattern of involvement: unilateral CH, CH with mainly vermis involvement, global CH with involvement of both vermis and hemispheres, and pontocerebellar hypoplasia. The category of CH, associated neuroimaging findings and clinical features may suggest a specific disorder or help plan further investigations and interpret their results. Over the past decade, advances in neuroimaging and genetic testing have greatly improved clinical diagnosis, diagnostic testing, recurrence risk counseling, and information about prognosis for patients and their families. In the next decade, these advances will be translated into deeper understanding of these disorders and more specific treatments.

Original languageEnglish (US)
Pages (from-to)211-226
Number of pages16
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume166
Issue number2
DOIs
StatePublished - Jun 2014

Keywords

  • Cerebellum
  • Disruptions
  • Genetics
  • Hypoplasia
  • Malformations
  • Neuroimaging

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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