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[Tuberous sclerosis: clinical characteristics and their relationship to genotype/phenotype]
T Monteiro1, C Garrido1, S Pina1
1Centro Materno-Infantil do Norte, Porto, Portugal.
Insights
Tuberous sclerosis (TS) is often caused by TSC2 gene mutations, leading to a worse neurological prognosis. This includes drug-resistant epilepsy and more severe cognitive impairment in affected children.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Tuberous sclerosis (TS) is an inherited disorder with significant variability in presentation.
- Mutations in either the TSC1 or TSC2 gene cause TS.
- Multisystemic involvement is characteristic of TS.
Purpose of the Study:
- To clinically characterize pediatric patients with TS over a decade.
- To correlate genotype with neurological severity and imaging findings.
- To identify potential genotype-phenotype correlations in TS.
Main Methods:
- Retrospective analysis of 35 TS patient medical records.
- Review of available MRI imaging for neurological manifestations.
- Genetic analysis performed on a subset of patients (24/35).
Main Results:
- Seizures were the initial symptom in 91.4% of cases, predominantly epileptic spasms.
- Over 50% experienced cognitive impairment and 49% had behavioral disorders.
- TSC2 mutations were identified in 58.3% of genetically studied patients and associated with refractory epilepsy and severe cognitive deficits.
Conclusions:
- A high prevalence of TSC2 mutations was observed in this TS cohort.
- TSC2 mutations are linked to a poorer neurological outcome, including drug-resistant epilepsy.
- Genetic findings correlate with increased severity of cognitive impairment in TS patients.
Introduction:
Tuberous sclerosis (TS) is an inherited disorder with multisystemic involvement and a high phenotypic variability. There are two genes that cause this condition: TSC1 and TSC2.
Objectives:
Our goal was to clinically characterize patients with TS followed up in the Pediatric Neurology Clinic of a tertiary hospital during the last 10 years, and correlate the genotype with the severity of neurological manifestations and imaging studies.
Patients And Methods:
Retrospective analysis of patients with TS, including review of medical records and available MRI imaging.
Results:
We studied 35 cases with a median age at diagnosis of ten months. Seizures were the first manifestation in 91.4% of cases, with a predominance of epileptic spasms. Over 50% had cognitive impairment and 49% behavioral disorders. A genetic study was performed on 24 children, and TSC2 mutations identified in 58.3% of them. Of the 11 cases of refractory epilepsy, six had the TSC2 gene mutation. In the group of eight patients with moderate/severe cognitive deficits, five had TSC2 mutations. We reviewed 26 MRI scans, in which it was observed that 76.9% had diffuse involvement of cerebral lobes, which reflects a greater burden of injury. Of the patients who had an MRI scan performed and had TSC2 mutations, all had a high tuber load, and5 of them had refractory epilepsy.
Discussion:
In our sample we observe a high percentage of mutations in the TSC2 gene. This mutation carries a worse neurological prognosis, with drug-resistant epilepsy and a more severe cognitive impairment.
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