encephalocele

Etiology

• failure of the neural tube to close completely during fetal development

Pathology

• congenital gap in skull with herniation of brain
  • groove down the midline of the upper part of the skull
• often accompanied by craniofacial abnormalities or other cephalic malformations

Genetics

• often a family history of spina bifida &/or anencephaly

Clinical manifestations

• generally obvious malformation diagnosed at birth
• occasionally a small encephalocele in nasal & forehead region can go undetected
• hydrocephalus
• spastic quadriplegia
• microcephaly
• ataxia
• developmental delay
• vision problems
• mental retardation
• seizures
• intelligence may be normal

Management

• surgery during infancy
  • place the protruding tissues back into the skull
  • correct the associated craniofacial abnormalities
  • even large protrusions can often be reduced without major functional disability
  • hydrocephalus may require ventriculoperitoneal shunt
• other treatment is symptomatic & supportive
• prognosis depends on
  • the type of brain tissue involved b location of the herniations,
  • accompanying brain malformations

More general terms

• neural tube defect
• cephalic malformation

Patient information

encephalocele patient information