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. 2022 Oct;80(10):1004-1010.
doi: 10.1055/s-0042-1758456. Epub 2022 Dec 19.

Clinical profile of tuberous sclerosis complex patients with and without epilepsy: a need for awareness for early diagnosis

Conceição Campanario da Silva Pereira  1 , Felipe Diego Gomes Dantas  2 , Maria Luiza Giraldes de Manreza  1
Affiliations

Clinical profile of tuberous sclerosis complex patients with and without epilepsy: a need for awareness for early diagnosis

Conceição Campanario da Silva Pereira et al. Arq Neuropsiquiatr. 2022 Oct.

Abstract
in English, Portuguese

Background: Tuberous sclerosis complex (TSC) is a multisystemic disorder. Its clinical features manifest differently in several organs, prompting the need for better knowledge.

Objective: The 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.

Methods: This 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.

Results: A 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 (p = 0.044), while lymphangioleiomyomatosis was significantly less frequent in the epilepsy group (p = 0.009). Other non-neurological findings did not differ significantly between the groups with and without epilepsy.

Conclusions: The 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.

Antecedentes: O Complexo da esclerose tuberosa (CET) é uma doença multissistêmica. As apresentações clínicas em diferentes órgãos são diversas, necessitando um maior conhecimento da doença.

Objetivo: O objetivo do presente estudo foi avaliar na CET o envolvimento neurológico, como lesões cerebrais e epilepsia, e chamar a atenção para achados não neurológicos que contribuiriam para o diagnóstico e tratamento precoces. MéTODOS: Estudo de história natural do CET em pacientes com critérios diagnósticos definidos encaminhados aleatoriamente para serviço especializado e que foram acompanhados, durante 2 anos, com exames clínicos e radiológicos.

Resultados: O total de 130 pacientes (59 do sexo masculino [45.4%]), idade média de 20,4 anos [1 a 56 anos]) foram avaliados; 107 pacientes (82.3%) foram diagnosticados com epilepsia. As crises epilépticas se iniciaram especialmente em pacientes < 1 ano de idade (72,8%); predomínio de crise focal (86,9%); ocorrência de espasmos infantis em 34,5% deles e de epilepsia refratária em 55,1%. A frequência de distúrbios neuropsiquiátricos, túberes corticais e túberes cerebelares foi significativamente mais frequente no grupo com epilepsia. Além disso, rabdomioma foi significativamente mais frequente no grupo com epilepsia (p = 0,044), enquanto a linfoangioleiomiomatose foi significativamente menos frequente (p = 0,009). Outros comprometimentos não neurológicos, como os oftalmológicos e os nefrológicos, não diferiram significativamente nos grupos com e sem epilepsia. CONCLUSõES: O presente estudo com pacientes com CET com e sem epilepsia pode demonstrar uma maior proporção significativa de transtornos neuropsiquiátricos associados ao CET no grupo com epilepsia. A maior proporção de túberes corticais e cerebelares parecem ser um fator de risco para epilepsia e para o comprometimento do neurodesenvolvimento.

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Conflict of interest statement

The authors have no conflict of interest to declare.

Figures

Figure 1.
Figure 1.
Age of seizure onset.
Figure 2.
Figure 2.
Seizures types.
See this image and copyright information in PMC

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