Analysis of clinical manifestations in 20 children and adolescents with tuberous sclerosis complex

Tuberous Sclerosis Complex (TSC) is an autosomal-dominant neurocutaneous disorder characterised by hamartomatous lesions in multiple organ systems. The spectrum of clinical manifestations varies from minor to severe disease and needs a multidisciplinary approach with holistic age-dependent examination, treatment and surveillance.

In a patient group of 20 individuals with the clinical definite diagnosis of TSC a comprehensive analysis of the diverse clinical manifestations was performed. Quality of life, using the KINDL-questionnaire was evaluated in a subgroup of patients. Data of this cohort were compared with current literature.

Apart from the typical manifestations, non-major-non-minor features as well as one case of polycystic kidney disease type 1 and ocular-cutaneous albinism type 1b were identified.

The finding of poor developmental outcome of refractory seizures, especially infantile spasms, and their association with morphological findings and neuropsychiatric complications was consistent with previous studies. While autistic spectrum disorders, multiple behavioural problems and cardiac complications were present in these patients, pulmonary and opththalmic complications, especially severe renal were absent. Apart from rhabdomyoma associated heart defects should be investigated. Even in cases with echocardiographically persisting rhabdomyoma, there was no delayed development of arrythmia when absent during first year of life. Children and adolescents with TSC seem to have an equal quality of life. The presence of any minor or major feature as well as the combination with atypical manifestations should lead to a multidisciplinary age-dependent evaluation for early treatment of severe complications in childhood such as mental impairment and neuropsychiatric problems.