RESUMO
Today several modalities for imaging the spine, the spinal canal and the spinal cord are available. Since children represent one of the most vulnerable patient groups, care has to be taken and imaging assessment should start always with less invasive procedures. Thus, in neonates and infants ultrasound should be used as first line imaging procedure due to their unique features of more cartilaginous parts of the yet non-ossified bones. Beyond this age group Magnetic Resonance Imaging (MRI) represents the modality of choice for radiological assessment of the spine, the spinal canal and the spinal cord. The purpose of this review is to present MRI and common MRI findings of typical diseases in children-ranging from congenital to acquired conditions. In addition, general imaging details will be given as well as a brief embryological description of the spine and spinal canal.
Assuntos
Imageamento por Ressonância Magnética/métodos , Medula Espinal/anormalidades , Doenças da Coluna Vertebral/diagnóstico , Coluna Vertebral/anormalidades , Criança , Pré-Escolar , Meios de Contraste , Humanos , Lactente , Recém-Nascido , Medula Espinal/embriologia , Doenças da Coluna Vertebral/congênito , Coluna Vertebral/embriologiaRESUMO
Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been identified in autosomal dominant distal hereditary motor neuropathy and Silver syndrome. We report the phenotypic consequences of the N88S mutation in 90 patients of 1 large Austrian family and two unrelated German families. Variation in the clinical and electrophysiological phenotype enabled us to distinguish six subtypes. In 4.4%, the disorder was not penetrant. Twenty percent of the patients were subclinically affected; some of these patients could only be detected by pathological nerve conduction studies. A distal hereditary motor neuropathy type V phenotype characterized by predominant hand muscle involvement was found in 31.1%, whereas 14.5% showed typical Silver syndrome with amyotrophy of the small hand muscles and spasticity of the lower extremities. Moreover, the phenotype present in 20% was compatible with Charcot-Marie-Tooth disease. In 10%, the clinical diagnosis of pure or complicated hereditary spastic paraparesis was made. Electrophysiological studies showed an axonal neuropathy but also chronodispersion of compound motor action potentials and conduction blocks. Sensory nerve conduction studies were rarely pathological. Our study indicates that the dominant N88S mutation in the Berardinelli-Seip congenital lipodystrophy gene 2 leads to a broad spectrum of motor neuron disorders.