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Related Experiment Videos

Hemimegalencephaly in tuberous sclerosis complex.

Paolo Galluzzi1, Alfonso Cerase, Mirella Strambi

  • 1Unit of Diagnostic and Therapeutic Neuroradiology, Azienda Ospedaliera Senese, and InterDepartmental Center of Nuclear Magnetic Resonance, Policlinico Le Scotte, Siena, Italy. neurorad@ao-siena.toscana.it

Journal of Child Neurology
|December 31, 2002
PubMed
Summary
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This case report details brain imaging in a 16-month-old with hemimegalencephaly and tuberous sclerosis complex. Large calcifications in hemimegalencephaly warrant investigation for tuberous sclerosis complex or phakomatosis.

Area of Science:

  • Neurology
  • Radiology
  • Genetics

Background:

  • Hemimegalencephaly is a rare congenital brain malformation.
  • Tuberous sclerosis complex is a genetic disorder causing tumors in organs.

Observation:

  • A 16-month-old girl presented with findings suggestive of both conditions.
  • Computed tomographic and magnetic resonance imaging were utilized.

Findings:

  • The case highlights an uncommon association between hemimegalencephaly and tuberous sclerosis complex.
  • Brain imaging revealed a large calcification within the hemimegalencephalic hemisphere.

Implications:

  • Identifying this association is crucial for diagnosis and management.
  • Further investigation is needed for appropriate treatment and genetic counseling.

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