sábado, 24 de marzo de 2018

Diagnosis and Treatment of Tuberous Sclerosis Manifestations in Children: A Multicenter Study. - PubMed - NCBI

Diagnosis and Treatment of Tuberous Sclerosis Manifestations in Children: A Multicenter Study. - PubMed - NCBI



 2018 Mar 20. doi: 10.1055/s-0038-1637738. [Epub ahead of print]

Diagnosis and Treatment of Tuberous Sclerosis Manifestations in Children: A Multicenter Study.

Abstract

Tuberous sclerosis complex (TSC) is a genetic disease with a significant morbidity and mortality. We conducted a retrospective analysis of two cohorts (Vall d'Hebron University Hospital [HVH], Barcelona, Spain, 1982-2015, and at Saarland University Medical Center [UKS], Homburg, Germany, 1998-2015) to assess prevalence and treatment of TSC associated manifestations and to evaluate if the follow-up was in line with published recommendations. This was considered if more than 15% of patients did not receive adequate examination with regard to potential organ involvement. A definite diagnosis was made in 52 patients (96%), and a possible diagnosis was made in 2 patients (4%). Thirty-four (63%) patients were from HVH and 20 (37%) from UKS. Median age at first presentation was 6 months (interquartile range: 0-38 months), and median time of follow-up was 6 years (interquartile range: 2-13 years). Clinical symptoms that led to a diagnosis of TSC were cardiac rhabdomyoma (22/54), epilepsy (20/54), and cutaneous manifestations (4/54). Assessment of neuropsychiatric, renal, and ocular manifestations was inadequate in both hospitals, whereas cutaneous manifestation was inadequate at UKS only. Our data demonstrate insufficient examinations in a substantial number of TSC patients with regard to neuropsychiatric, renal, ocular, and cutaneous manifestations. The recently published guidelines may prove valuable in establishing a more comprehensive approach.

PMID:
 
29558773
 
DOI:
 
10.1055/s-0038-1637738

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