Childhood tuberous sclerosis complex in southern Sweden: a paradigm shift in diagnosis and treatment.
BMC Pediatr
; 23(1): 329, 2023 06 29.
Article
em En
| MEDLINE
| ID: mdl-37386496
ABSTRACT
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Rabdomioma
/
Esclerose Tuberosa
/
Neoplasias Cardíacas
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
Limite:
Adult
/
Aged
/
Child
/
Humans
País/Região como assunto:
Europa
Idioma:
En
Revista:
BMC Pediatr
Assunto da revista:
PEDIATRIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Suécia