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[Atypical presentation of tuberous sclerosis]
Marius Kløvgaard1, Ali A Muhamad, Ioannis Tsiropoulos
1mks@dadlnet.dk.
Ugeskrift for Laeger
|December 14, 2016
Summary
Tuberous sclerosis complex (TSC) is a genetic disorder often diagnosed in childhood. This case report emphasizes considering TSC in adults presenting with new-onset seizures, highlighting variable expressivity.
Area of Science:
- Genetics
- Neurology
- Dermatology
Background:
- Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder affecting multiple organs.
- Diagnosis typically relies on clinical criteria or genetic testing, with most cases identified in childhood.
- Variable intra- and interfamiliar expressivity necessitates considering TSC in adult diagnoses.
Observation:
- A case report details a 20-year-old female with an atypical presentation of TSC.
- The patient experienced a first-time seizure, prompting diagnostic investigation.
- This presentation underscores the importance of considering TSC in adult-onset seizures.
Findings:
- The case highlights that TSC should be suspected in adults presenting with new-onset seizures.
- Atypical presentations can delay diagnosis in adult TSC patients.
- Early diagnosis in adults is crucial for appropriate management.
Implications:
- Suspecting TSC in adults with new-onset seizures can lead to earlier diagnosis.
- Timely diagnosis facilitates essential multidisciplinary follow-up and management.
- Recognizing atypical adult presentations improves diagnostic yield for TSC.
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