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Global cerebellar hypoplasia in a 2-year-old girl (MRI)

MRI demonstrated in (A) T2-weighted axial flare study, (B) T1-weighted sagittal view, and (C) T2-weighted parasagittal view. The entire cerebellum, both vermis and lateral hemispheres, is small, and the folia appear excessively prominent because of the wide sulci that separate them. The brainstem, including the basis pontis, is well formed, and supratentorial structures also appear normal, including the cerebral cortical gyri, corpus callosum, ventricles, and deep telencephalic and diencephalic structures. (Contributed by Dr. Harvey Sarnat.)

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Associated Disorders

  • Chiari malformation
  • Chromosomal disorders
  • Congenital disorders of glycosylation
  • Dandy-Walker malformation
  • Fragile X syndrome
  • Global cerebellar hypoplasia
  • Granuloprival cerebellar hypoplasia
  • Holoprosencephaly
  • Joubert syndrome
  • Lissencephaly/pachygyria
  • Macrocerebellum
  • Meckel-Grüber syndrome
  • Meningomyelocele
  • Menkes kinky hair disease
  • Midbrain agenesis
  • Miller-Dieker syndrome
  • Rett syndrome
  • Rhombencephalosynapsis
  • Selective hypoplasia of the cerebellar vermis
  • Septo-optic-pituitary dysplasia
  • Subcortical band heterotopia
  • Total aplasia of the cerebellum
  • Trisomy 13-15
  • Trisomy 16-18
  • VLDLR-associated pontocerebellar hypoplasia
  • Walker-Warburg syndrome