ArticleArquivos de neuro-psiquiatria2022
Clinical profile of tuberous sclerosis complex patients with and without epilepsy: a need for awareness for early diagnosis.
Article in Arquivos de neuro-psiquiatria, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 9 citations in OpenAlex.
- Neuropsychiatric disorders in Chinese pediatric tuberous sclerosis complex patients associated with drug-resistant epilepsy: A TAND checklist-based survey.Epilepsy & behavior reports · 2025Article
- Diagnostic flow analysis of tuberous sclerosis complex in Japan: a retrospective claims database study.Orphanet journal of rare diseases · 2024Article
- Neurological manifestations of tuberous sclerosis complex: the importance of early diagnosis.Arquivos de neuro-psiquiatria · 2022Article
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3 authors at 1 institution in 1 country.
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Abstract
backgroundTuberous sclerosis complex (TSC) is a multisystemic disorder. Its clinical features manifest differently in several organs, prompting the need for better knowledge.
objectiveThe goal of the present study is to evaluate the neurological findings of TSC, such as cerebral lesions and epilepsy, and to raise awareness of non-neurological findings that could contribute to an earlier diagnosis and treatment.
methodsThis was a natural history study of patients with a definitive diagnosis of TSC who were referred to a specialized outpatient clinic and followed-up for 2 years with clinical and radiological exams.
resultsA total of 130 TSC patients (59 males [45.4%], mean age 20.4 years old [1 to 56 years old]); 107 patients (82.3%) were diagnosed with epilepsy. Seizures predominantly began at < 1 year old (72.8%); focal seizures predominated (86.9%); epileptic spasms occurred in 34.5% of patients, and refractory epilepsy was present in 55.1%. Neuropsychiatric disorders, cortical tubers and cerebellar tubers were significantly more frequent in the epilepsy group. Moreover, rhabdomyomas were significantly more frequent in the epilepsy group (
conclusionsThe present study of TSC patients demonstrated the predominantly neurological involvement and significantly higher proportion of TSC-associated neuropsychiatric disorders in the epilepsy group. Higher proportions of cortical and cerebellar tubers may be a risk factor for epilepsy and neurodevelopmental disorders.
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