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 RetrospectivosRESUMO
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.
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.