Hemimegalencephaly

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Disease Overview

Hemimegalencephaly is a rare malformation involving one side of the brain.[10095][10096] It may occur alone or in association with other syndromes such as Proteus syndrome, tuberous sclerosis, linear sebaceous nevus syndrome, neurofibromatosis, Sturge-Weber syndrome, or Klippel-Trenaunay syndrome.[10095] Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and impaired cognitive development.[10096][10097] Because the seizures associated with hemimegalencephaly are difficult to treat with anticonvulsant medications, a surgery called hemispherectomy is often the most successful treatment.[10095][10097] The cause of hemimegalencephaly is not fully understood, but involves a disturbance of cells early in development and likely involves genes involved in patterning and symmetry.[10095][10096]


Synonyms

  • Macrencephaly
  • Unilateral Megalencephaly

For more information, visit GARD.

National Organization for Rare Disorders