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.
