Muscle-eye-brain disease

Muscle-eye-brain disease, a part of the spectrum of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A3; MDDGA3), is a congenital muscular dystrophy with associated progressive eye and brain abnormalities.

Clinical presentation

There is severe intellectual disability, in combination with seizures. Motor development is usually severely delayed. Eye abnormalities include choroidal hypoplasia, retinal degeneration, optic nerve hypoplasia, severe myopia and glaucoma.

Pathology

Etiology

Muscle-eye-brain disease is caused by a fault in O-mannosyl glycan synthesis.

Genetics

It is an inherited autosomal recessive disease with marked phenotypic variability. The founder mutation is in the Finnish population (POMGNT1 mutations are most common).

Radiographic features

MRI

• cerebral hemispheres
  • diffuse cerebral cortical dysplasias: pachygyria, polymicrogyria or agyria +/- cysts
  • high T2 signal cerebral white matter signal reflecting patchy hypomyelination
  • hydrocephalus
• midline structures
  • absent septum pellucidum
  • hypo/dysgenesis of the corpus callosum
• infratentorial structures
  • cerebellar polymicrogyria +/- multiple subcortical cerebellar cysts
  • cerebellar vermian and pontine hypoplasia
  • malformed tectal plate, fused midbrain superior and inferior colliculi

Treatment and prognosis

No curative treatment is available. Management is supportive.