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1.
Dev Med Child Neurol ; 61(10): 1221-1228, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31313298

RESUMO

AIM: To improve the genetic, clinical, and neuroradiological characterization of cerebellar involvement in tuberous sclerosis complex (TSC) and determine whether cerebellar lesions could be a reliable biomarker of neurological impairment. METHOD: This retrospective cohort study, held at two tertiary paediatric university centres, was conducted on patients with a confirmed diagnosis of TSC who underwent brain magnetic resonance imaging between October 2009 and May 2016. The study population consisted of 112 patients with TSC (median age 10y; range 5mo-38y; 61 females, 51 males). RESULTS: The results from multivariable statistical analysis indicated that cerebellar involvement (34 out of 112 patients, none carrying a TSC1 mutation) was the most powerful predictor of supratentorial cortical tuber load; however, cerebellar involvement was not the best predictor of clinical phenotype when supratentorial tuber load and TSC2 mutations were taken into consideration. The association between cerebellar lesions and a more severe clinical and neuroradiological phenotype was statistically significant and may be due to its strong association with TSC2 mutations and higher cortical tuber load. INTERPRETATION: Cerebellar involvement is not the best predictor of neurobehavioural outcome, including TSC-related autism, after adjusting for TSC2 and the number of cortical tubers. Its role in the TSC clinical phenotype needs to be investigated further. WHAT THIS PAPER ADDS: Cerebellar involvement is a powerful predictor of supratentorial cortical involvement and a potential biomarker of disease severity. Cerebellar lesions significantly correlate with a more severe clinical and neuroradiological phenotype. Cerebellar involvement is not the best predictor of neurobehavioural outcome.


Assuntos
Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/patologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Mutação , Fenótipo , Estudos Retrospectivos , Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose Tuberosa/genética
2.
Neuroradiology ; 60(8): 813-820, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29909560

RESUMO

PURPOSE: Despite complex olfactory bulb embryogenesis, its development abnormalities in tuberous sclerosis complex (TSC) have been poorly investigated. METHODS: Brain MRIs of 110 TSC patients (mean age 11.5 years; age range 0.5-38 years; 52 female; 26 TSC1, 68 TSC2, 8 without mutation identified in TSC1 or TSC2, 8 not tested) were retrospectively evaluated. Signal and morphological abnormalities consistent with olfactory bulb hypo/aplasia or with olfactory bulb hamartomas were recorded. Cortical tuber number was visually assessed and a neurological severity score was obtained. Patients with and without rhinencephalon abnormalities were compared using appropriate parametric and non-parametric tests. RESULTS: Eight of110 (7.2%) TSC patients presented rhinencephalon MRI changes encompassing olfactory bulb bilateral aplasia (2/110), bilateral hypoplasia (2/110), unilateral hypoplasia (1/110), unilateral hamartoma (2/110), and bilateral hamartomas (1/110); olfactory bulb hypo/aplasia always displayed ipsilateral olfactory sulcus hypoplasia, while no TSC patient harboring rhinencephalon hamartomas had concomitant forebrain sulcation abnormalities. None of the patients showed overt olfactory deficits or hypogonadism, though young age and poor compliance hampered a proper evaluation in most cases. TSC patients with rhinencephalon changes had more cortical tubers (47 ± 29.1 vs 26.2 ± 19.6; p = 0.006) but did not differ for clinical severity (p = 0.45) compared to the other patients of the sample. CONCLUSIONS: Olfactory bulb and/or forebrain changes are not rare among TSC subjects. Future studies investigating clinical consequences in older subjects (anosmia, gonadic development etc.) will define whether rhinencephalon changes are simply an imaging feature among the constellation of TSC-related brain changes or a feature to be searched for possible implications in the management of TSC subjects.


Assuntos
Imageamento por Ressonância Magnética , Córtex Olfatório/diagnóstico por imagem , Córtex Olfatório/patologia , Esclerose Tuberosa/diagnóstico por imagem , Esclerose Tuberosa/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Índice de Gravidade de Doença
5.
Epilepsia Open ; 8(4): 1314-1330, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37491868

RESUMO

OBJECTIVE: NPRL3-related epilepsy (NRE) is an emerging condition set within the wide GATOR-1 spectrum with a particularly heterogeneous and elusive phenotypic expression. Here, we delineated the genotype-phenotype spectrum of NRE, reporting an illustrative familial case and reviewing pertinent literature. METHODS: Through exome sequencing (ES), we investigated a 12-year-old girl with recurrent focal motor seizures during sleep, suggestive of sleep-related hypermotor epilepsy (SHE), and a family history of epilepsy in siblings. Variant segregation analysis was performed by Sanger sequencing. All previously published NRE patients were thoroughly reviewed and their electroclinical features were analyzed and compared with the reported subjects. RESULTS: In the proband, ES detected the novel NPRL3 frameshift variant (NM_001077350.3): c.151_152del (p.Thr51Glyfs*5). This variant is predicted to cause a loss of function and segregated in one affected brother. The review of 76 patients from 18 publications revealed the predominance of focal-onset seizures (67/74-90%), with mainly frontal and frontotemporal (32/67-47.7%), unspecified (19/67-28%), or temporal (9/67-13%) onset. Epileptic syndromes included familial focal epilepsy with variable foci (FFEVF) (29/74-39%) and SHE (11/74-14.9%). Fifteen patients out of 60 (25%) underwent epilepsy surgery, 11 of whom achieved complete seizure remission (11/15-73%). Focal cortical dysplasia (FCD) type 2A was the most frequent histopathological finding. SIGNIFICANCE: We reported an illustrative NPRL3-related epilepsy (NRE) family with incomplete penetrance. This condition consists of a heterogeneous spectrum of clinical and neuroradiological features. Focal-onset motor seizures are predominant, and almost half of the cases fulfill the criteria for SHE or FFEVF. MRI-negative cases are prevalent, but the association with malformations of cortical developments (MCDs) is significant, especially FCD type 2a. The beneficial impact of epilepsy surgery in patients with MCD-related epilepsy further supports the inclusion of brain MRI in the workup of NRE patients.


Assuntos
Epilepsias Parciais , Epilepsia Motora Parcial , Epilepsia Reflexa , Síndromes Epilépticas , Masculino , Feminino , Humanos , Criança , Epilepsias Parciais/genética , Convulsões/genética , Proteínas Ativadoras de GTPase/genética
6.
Artigo em Inglês | MEDLINE | ID: mdl-36446614

RESUMO

BACKGROUND AND OBJECTIVES: We sought to identify early factors associated with relapse and outcome in paediatric-onset myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD). METHODS: In a multicenter retrospective cohort of pediatric MOGAD (≤18 years), onset features and treatment were compared in patients with monophasic vs relapsing disease (including cases with follow-up ≥12 months after onset or relapse at any time) and in patients with final Expanded Disability Status Scale (EDSS) 0 vs ≥1 at last follow-up (including cases with follow-up >3 months after last event or EDSS0 at any time). Multivariable logistic regression models were used to evaluate factors associated with relapsing disease course and EDSS ≥ 1 at final follow-up. RESULTS: Seventy-five children were included (median onset age 7 years; median 30 months of follow-up). Presentation with acute disseminated encephalomyelitis was more frequent in children aged 8 years or younger (66.7%, 28/42) than in older patients (30.3%, 10/33) (p = 0.002), whereas presentation with optic neuritis was more common in children older than 8 years (57.6%, 19/33) than in younger patients (21.4%, 9/42) (p = 0.001). 40.0% (26/65) of patients relapsed. Time to first relapse was longer in children aged 8 years or younger than in older patients (median 18 vs 4 months) (p = 0.013). Factors at first event independently associated with lower risk of relapsing disease course were immunotherapy <7 days from onset (6.7-fold reduced odds of relapsing course, OR 0.15, 95% CI 0.03-0.61, p = 0.009), corticosteroid treatment for ≥5 weeks (6.7-fold reduced odds of relapse, OR 0.15, 95% CI 0.03-0.80, p = 0.026), and abnormal optic nerves on onset MRI (12.5-fold reduced odds of relapse, OR 0.08, 95% CI 0.01-0.50, p = 0.007). 21.1% (15/71) had EDSS ≥ 1 at final follow-up. Patients with a relapsing course had a higher proportion of final EDSS ≥ 1 (37.5%, 9/24) than children with monophasic disease (12.8%, 5/39) (p = 0.022, univariate analysis). Each 1-point increment in worst EDSS at onset was independently associated with 6.7-fold increased odds of final EDSS ≥ 1 (OR 6.65, 95% CI 1.33-33.26, p = 0.021). DISCUSSION: At first attack of pediatric MOGAD, early immunotherapy, longer duration of corticosteroid treatment, and abnormal optic nerves on MRI seem associated with lower risk of relapse, whereas higher disease severity is associated with greater risk of final disability (EDSS ≥ 1).


Assuntos
Fatores Imunológicos , Imunoterapia , Humanos , Estudos Retrospectivos , Progressão da Doença , Corticosteroides/uso terapêutico , Recidiva
7.
J Athl Train ; 48(2): 277-81, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23672393

RESUMO

OBJECTIVE: Pneumomediastinum and pneumopericardium are rare occurrences in young athletes, but they can result in potentially life-threatening consequences. BACKGROUND: While involved in a rugby match, an 11-year-old boy received a chest compression by 3 players during a tackle. He continued to play, but 2 hours later, he developed sharp retrosternal chest pain. A chest radiograph and an echocardiograph at the nearest emergency department showed pneumopericardium and pneumomediastinum. DIFFERENTIAL DIAGNOSIS: Sternal and rib contusions, rib fractures, heartburn, acute asthma exacerbation, pneumomediastinum, pneumopericardium, pneumothorax, traumatic tracheal rupture, myocardial infarction, and costochondritis (Tietze syndrome). TREATMENT: Acetaminophen for pain control. UNIQUENESS: To our knowledge, this is the only case in the international literature of the simultaneous occurrence of pneumomediastinum and pneumopericardium in a child as a consequence of blunt chest trauma during a rugby match. CONCLUSIONS: Pneumomediastinum and pneumopericardium may be consequences of rugby blunt chest trauma. Symptoms can appear 1 to 2 hours later, and the conditions may result in serious complications. Immediate admission to the emergency department is required.


Assuntos
Futebol Americano/lesões , Enfisema Mediastínico/diagnóstico , Enfisema Mediastínico/etiologia , Pneumopericárdio/diagnóstico , Pneumopericárdio/etiologia , Criança , Diagnóstico Diferencial , Humanos , Masculino , Enfisema Mediastínico/terapia , Medição da Dor , Pneumopericárdio/terapia
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