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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
Insights
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.
Abstract:
The purpose of this case report is to describe the computed tomographic and magnetic resonance imaging findings of the brain of a 16-month-old girl with an uncommon association between hemimegalencephaly and tuberous sclerosis complex. When a large calcification is found within a hemimegalencephalic cerebral hemisphere, further investigation of a suspected associated tuberous sclerosis complex or another phakomatosis is required to determine pertinent treatment options and genetic counseling.
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