RESUMO
INTRODUCTION: Acute cerebellitis is a rare inflammatory disease with a highly variable clinical course that ranges from benign self-limiting symptoms to a fulminant presentation associated with a high risk of death due to compression of the posterior fossa, acute hydrocephalus, and intracranial hypertension. METHODS: We reviewed clinical, laboratory, and radiological findings from children diagnosed with acute cerebellitis between May 2007 and November 2016. We analysed treatments and clinical and radiological progression. RESULTS: Nine children met the diagnostic criteria for cerebellitis. Headache, vomiting, and drowsiness were the most frequent initial symptoms; ataxia, dysarthria, and dysmetria were the most common cerebellar signs. Cerebellitis was diagnosed with magnetic resonance imaging, which revealed cerebellar involvement (unilateral or bilateral); computerised tomography images either were normal or showed indirect signs such as triventricular hydrocephalus due to extrinsic compression of the aqueduct of Sylvius. Corticosteroids were the most commonly used treatment (6 patients). One patient required surgery due to triventricular hydrocephalus. Eight patients recovered completely, whereas the ninth displayed neurological sequelae. CONCLUSIONS: Cerebellitis is a medical and surgical emergency; diagnosis requires a high level of suspicion and an emergency brain magnetic resonance imaging study. It is a clinical-radiological syndrome characterised by acute or subacute encephalopathy with intracranial hypertension and cerebellar syndrome associated with T2-weighted and FLAIR hyperintensities in the cerebellar cortex (unilaterally or bilaterally) and possible triventricular dilatation. Treatment is based on high-dose corticosteroids and may require external ventricular drain placement and decompressive surgery.
Assuntos
Doenças Cerebelares/complicações , Doenças Cerebelares/patologia , Cerebelo/patologia , Corticosteroides/uso terapêutico , Ataxia , Ataxia Cerebelar , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/terapia , Cerebelo/diagnóstico por imagem , Ventrículos Cerebrais/diagnóstico por imagem , Criança , Pré-Escolar , Encefalite , Feminino , Humanos , Hidrocefalia , Inflamação , Hipertensão Intracraniana , Imageamento por Ressonância Magnética , Masculino , Tomografia Computadorizada por Raios XRESUMO
INTRODUCTION: Global developmental delay (GDD) and intellectual disability (ID) are frequent reasons for consultation in paediatric neurology departments. Nowadays, array comparative genomic hybridisation (array-CGH) is one of the most widely used techniques for diagnosing these disorders. Our purpose was to determine the phenotypic features associated with pathological results in this genetic test. METHODS: We conducted a blind study of the epidemiological, clinical, anthropometric, and morphological features of 80 patients with unexplained ID to determine which features were associated with pathological results in array-CGH. RESULTS: Pathological results were found in 27.5% of the patients. Factors associated with pathological results in array-CGH were a family history of GDD/ID (OR = 12.1), congenital malformations (OR = 5.33), having more than 3 facial dysmorphic features (OR = 20.9), and hypotonia (OR = 3.25). CONCLUSIONS: Our findings are consistent with those reported by other published series. We therefore conclude that the probability of having pathological results in array-CGH increases with the presence of any of the features mentioned above in patients with ID/GDD.
Assuntos
Hibridização Genômica Comparativa/métodos , Deficiências do Desenvolvimento/genética , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Fenótipo , Criança , Feminino , Humanos , MasculinoRESUMO
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Assuntos
Humanos , Masculino , Lactente , Hidrocefalia/diagnóstico , Traumatismos Craniocerebrais/complicações , Neuroimagem/métodosAssuntos
Síndrome da Criança Espancada/complicações , Hemorragia Cerebral/etiologia , Hematoma Subdural/etiologia , Doença Aguda , Síndrome da Criança Espancada/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Hemorragia Cerebral/diagnóstico por imagem , Feminino , Hematoma Subdural/diagnóstico por imagem , Humanos , Lactente , Terminologia como Assunto , Tomografia Computadorizada por Raios XRESUMO
The measurement of the metacarpal cortical thickness as well of the diameter is an accurate, simple and economic procedure in the clinical diagnosis of the growth deficiency. Our study reports the increasing values of such parameters obtained from a normal Spanish population controlled at ages 0.5, 1, 2, 3 and 4, in the growth studies center "Andrea Prader" of Zaragoza.
Assuntos
Antropometria , Metacarpo/anatomia & histologia , Pré-Escolar , Feminino , Humanos , Lactente , Estudos Longitudinais , Masculino , Valores de Referência , EspanhaRESUMO
A case of a lumbar aneurysmal bone cyst is presented in a 5 year-9 month old girl. The characteristics of this tumor are described, specifically in the spinal area, with particular reference to the diagnostic and therapeutic difficulties referred, taking into account the existing bibliography. The partial resection has been curative, as it has been frequently written about in publication worldwide and which suggest that surgery does not have to be aggressive in unapproachable cases and that radiotherapy is unnecessary.