Forehead plaque in a child with epilepsy: A clue for tuberous sclerosis

Area of Science:

• Neurocutaneous disorders
• Genetics
• Pediatric neurology

Background:

• Tuberous sclerosis complex (TSC) is a prevalent neurocutaneous disorder impacting multiple organs.
• Advances in vigabatrin and everolimus have transformed TSC management.
• TSC diagnosis relies on characteristic clinical manifestations.

Observation:

• A 10-year-old girl presented with generalized tonic-clonic seizures.
• Her TSC diagnosis was confirmed by the presence of a forehead plaque.
• This case highlights the importance of dermatological examination in seizure evaluation.

Findings:

• Forehead plaques are a significant diagnostic indicator for TSC in children with seizures.
• Other cutaneous markers like ashleaf macules, café-au-lait spots, and shagreen patches are crucial.
• Prompt identification of TSC enables timely and appropriate therapeutic interventions.

Implications:

• Integrating dermatological assessments into seizure workups can improve early TSC detection.
• Early TSC diagnosis facilitates the use of targeted therapies like everolimus.
• This approach can prevent long-term neurological complications associated with TSC.