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Muscle-eye-brain disease in a 7-year-old boy (2)

Axial view of posterior fossa shows severe hypoplasia of pons and absence of vermis in this low level section. White arrow points to hypodense zone, represented small cyst, a characteristic finding of the cerebellum in muscle-eye-brain disease. (Contributed by Dr. Peter Barth.)

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Associated Disorders

  • Agyria
  • Brain malformation
  • Buphthalmos
  • Cataract
  • Cerebellar malformation
  • Congenital muscular dystrophy
  • Corneal opacity
  • Dandy-Walker syndrome
  • Encephalocele
  • Glaucoma
  • Hydrocephalus
  • Lissencephaly
  • Microphthalmos
  • Optic nerve atrophy
  • Retinal detachment
  • Retinal dysplasia