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Childhood tuberous sclerosis complex in southern Sweden: a paradigm shift in diagnosis and treatment
Kevin Pearsson1,2, Josefin Björk Werner3, Johan Lundgren4
1Department of Clinical Sciences Lund, Clinical Sciences Helsingborg, Lund University, Lund, Sweden.
Insights
Tuberous sclerosis complex (TSC) diagnoses are shifting earlier, with over 60% now detected prenatally. This enables earlier intervention for epilepsy and other TSC symptoms.
Area of Science:
- Pediatric Neurology
- Medical Genetics
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder with a wide clinical spectrum.
- Early diagnosis and intervention are crucial for managing TSC manifestations.
Purpose of the Study:
- To investigate the clinical spectrum of pediatric TSC in southern Sweden.
- To identify changes in TSC diagnosis and management over time.
Main Methods:
- Retrospective observational study of 52 individuals with TSC up to 18 years old.
- Follow-up conducted at regional hospitals and habilitation centers from 2000 to 2020.
Main Results:
- A shift towards earlier TSC diagnosis, with >60% detected prenatally in recent years, often due to cardiac rhabdomyoma.
- Epilepsy diagnosed in 82.7%; 19% treated with everolimus. Renal cysts (53%), angiomyolipomas (47%), astrocytic hamartomas (28%) were also common.
- Lack of standardized follow-up and transition to adult care noted.
Conclusions:
- Earlier prenatal diagnosis of TSC is increasingly common.
- Early diagnosis facilitates preventive epilepsy treatment and timely intervention with everolimus for symptom mitigation.
Aim:
To investigate the complete clinical spectrum of individuals with paediatric tuberous sclerosis complex in southern Sweden and explore changes over time.
Methods:
In this retrospective observational study, 52 individuals aged up to 18 years at the study start were followed-up at regional hospitals and centres for habilitation from 2000 to 2020.
Results:
Cardiac rhabdomyoma was detected prenatally/neonatally in 69.2% of the subjects born during the latest ten years of the study period. Epilepsy was diagnosed in 82.7% of subjects, and 10 (19%) were treated with everolimus, mainly (80%) for a neurological indication. Renal cysts were detected in 53%, angiomyolipomas in 47%, astrocytic hamartomas in 28% of the individuals. There was a paucity of standardized follow-up of cardiac, renal, and ophthalmological manifestations and no structured transition to adult care.
Conclusion:
Our in-depth analysis shows a clear shift towards an earlier diagnosis of tuberous sclerosis complex in the latter part of the study period, where more than 60% of cases showed evidence of this condition already in utero due to the presence of a cardiac rhabdomyoma. This allows for preventive treatment of epilepsy with vigabatrin and early intervention with everolimus for potential mitigation of other symptoms of tuberous sclerosis complex.
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