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2.
Eur J Paediatr Neurol ; 47: 118-130, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38284996

RESUMO

BACKGROUND: Acute cerebellitis (AC) in children and adolescents is an inflammatory disease of the cerebellum due to viral or bacterial infections but also autoimmune-mediated processes. OBJECTIVE: To investigate the frequency of autoantibodies in serum and CSF as well as the neuroradiological features in children with AC. MATERIAL AND METHODS: Children presenting with symptoms suggestive of AC defined as acute/subacute onset of cerebellar symptoms and MRI evidence of cerebellar inflammation or additional CSF pleocytosis, positive oligoclonal bands (OCBs), and/or presence of autoantibodies in case of negative cerebellar MRI. Children fulfilling the above-mentioned criteria and a complete data set including clinical presentation, CSF studies, testing for neuronal/cerebellar and MOG antibodies as well as MRI scans performed at disease onset were eligible for this retrospective multicenter study. RESULTS: 36 patients fulfilled the inclusion criteria for AC (f:m = 14:22, median age 5.5 years). Ataxia was the most common cerebellar symptom present in 30/36 (83 %) in addition to dysmetria (15/36) or dysarthria (13/36). A substantial number of children (21/36) also had signs of encephalitis such as somnolence or seizures. In 10/36 (28 %) children the following autoantibodies (abs) were found: MOG-abs (n = 5) in serum, GFAPα-abs (n = 1) in CSF, GlyR-abs (n = 1) in CSF, mGluR1-abs (n = 1) in CSF and serum. In two further children, antibodies were detected only in serum (GlyR-abs, n = 1; GFAPα-abs, n = 1). MRI signal alterations in cerebellum were found in 30/36 children (83 %). Additional supra- and/or infratentorial lesions were present in 12/36 children, including all five children with MOG-abs. Outcome after a median follow-up of 3 months (range: 1 a 75) was favorable with an mRS ≤2 in 24/36 (67 %) after therapy. Antibody (ab)-positive children were significantly more likely to have a better outcome than ab-negative children (p = .022). CONCLUSION: In nearly 30 % of children in our study with AC, a range of abs was found, underscoring that autoantibody testing in serum and CSF should be included in the work-up of a child with suspected AC. The detection of MOG-abs in AC does expand the MOGAD spectrum.


Assuntos
Autoanticorpos , Encefalite , Adolescente , Criança , Pré-Escolar , Humanos , Ataxia , Cerebelo/diagnóstico por imagem , Encefalite/diagnóstico por imagem , Inflamação , Estudos Retrospectivos
3.
Mol Genet Metab Rep ; 25: 100666, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33299796

RESUMO

Glutaric aciduria type 1 (GA1) is a severe inherited neurometabolic disorder whose clinical outcome has improved after implementation of newborn screening (NBS) programs and prompt beginning of guideline-directed presymptomatic metabolic treatment. We report the outcome of our 40-year experience with the diagnosis and management of GA1 which has improved but remains suboptimal.

4.
Osteoporos Int ; 27(3): 1265-1268, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26501559

RESUMO

Sacral stress fracture and sacroiliitis are two conditions that present with pain. Sacral stress fractures are a rare cause of lumbar and hip pain. Sacral insufficiency fractures are a type of sacral stress fractures. Sacroiliitis represents inflammation of the sacroiliac joints. Coexistence of sacroiliitis and sacral insufficiency fracture (SIF) has not been reported before. Case 1: A 39-year-old woman reporting inflammatory back pain. Imaging revealed bilateral chronic sacroiliitis and bilateral SIF. Case 2: A 31-year-old woman presenting with left hip and inguinal pain. Imaging revealed left sacroiliitis and ipsilateral SIF. Calcium and vitamin D supplementation together with nonsteroidal anti-inflammatory drug (NSAID) treatment were given. Sulfasalazine was added to the treatment of the second patient who developed peripheral arthritis during follow-ups. Early diagnosis is best made with magnetic resonance imaging (MRI) since roentgenograms may be negative initially. Furthermore, MRI findings of both entities share common features leading to a diagnostic dilemma. Interpretation of radiological findings assisted by detailed history and clinical findings is crucial for diagnosis and treatment.


Assuntos
Fraturas de Estresse/diagnóstico por imagem , Sacroileíte/diagnóstico por imagem , Sacro/lesões , Adulto , Doença Crônica , Diagnóstico Diferencial , Feminino , Fraturas de Estresse/complicações , Humanos , Imageamento por Ressonância Magnética/métodos , Dor/etiologia , Sacroileíte/complicações , Sacro/diagnóstico por imagem
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