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Hemimegalencephaly in a patient with a neurocutaneous syndrome

Kevin Chapman1, Javier F Cardenas

  • 1Division of Child Neurology, Barrow Neurological Institute and St Joseph's Hospital & Medical Center, Phoenix, AZ 85013, USA. Kevin.Chapman003@chw.edu

Seminars in Pediatric Neurology
|December 17, 2008
PubMed

Insights

Hypomelanosis of Ito can cause severe epilepsy. While a modified Atkins diet improved seizure control, hemispherectomy remains a potential treatment for intractable cases in children.

Area of Science:

  • Neurology
  • Genetics

Background:

  • Hypomelanosis of Ito is a rare neurocutaneous disorder.
  • It is frequently associated with intractable epilepsy and central nervous system abnormalities like hemimegalencephaly.

Observation:

  • A 5-year-old girl with Hypomelanosis of Ito presented with intractable epilepsy.
  • MRI revealed right hemimegalencephaly, with seizures originating from the right hemisphere.

Findings:

  • The patient's seizures partially improved with a modified Atkins diet.
  • Despite dietary changes, weekly seizures persisted, indicating intractable epilepsy.

Implications:

  • Hemispherectomy is a viable surgical option for intractable epilepsy secondary to Hypomelanosis of Ito and hemimegalencephaly.
  • Early surgical consideration may be warranted in select pediatric cases.

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