ABSTRACT
UNLABELLED: Neonatal hypoxic-ischemic encephalopathy remains a major cause of chronic disability in childhood. Early diagnosis and prognosis are necessary for the clinician to adapt the treatment. However, there is yet no reliable test to predict the patient's evolution. OBJECTIVE: The aim of our study was to evaluate the predictive value of a personal magnetic resonance imaging (MRI) scoring system and of magnetic resonance spectroscopy (MRS). MATERIAL AND METHODS: We included 26 term newborns in condition of neonatal brain suffering. MR examination was performed during the first week of life for all patients and MRI and MRS data were collected. Standardised follow-up visits were made for all patients. Finally, prognostic value of the different criteria was evaluated with statistical tests. RESULTS: Our MRI scoring system proved to be linked to prognosis. A high MRI score, abnormal signal in the internal capsule, white matter or basal ganglia abnormalities with diffusion imaging were associated with unfavourable outcome. These results confirmed the data of the literature concerning the MRI predictive value. Our study also confirmed prognostic interest of MR: particularly, ratios using lactate were significantly linked to prognosis in our study. Specificity of the elevation of these ratios was interesting but sensibility was less optimal. CONCLUSION: We suggest using our MRI scoring system which associates standard MRI and diffusion imaging, which is significantly related to outcome. We confirm the prognostic value of MRS in this pathological situation. MR with diffusion sequence and spectroscopy, performed three to four days after birth appears to be an essential tool to manage these patients.
Subject(s)
Brain Ischemia/diagnosis , Infant, Newborn, Diseases/diagnosis , Asphyxia Neonatorum/diagnosis , Brain/abnormalities , Brain/pathology , Humans , Infant, Newborn , Magnetic Resonance Imaging , Patient Selection , Prognosis , Reproducibility of ResultsABSTRACT
Although the pathogenesis of cerebral aneurysms has been studied intensively, it is yet poorly understood. However, a genetic predisposition to this pathology has been often suspected. We describe a patient with both intracranial aneurysm and Angelman syndrome. Angelman syndrome is characterized by severe mental retardation, inappropriate laughter, absent speech, dysmorphic facial features and seizures. It is due to genetic abnormalities of chromosome 15. Cerebral aneurysms are sometimes associated with inherited diseases like autosomal dominant polycystic kidney disease. Moreover several candidate genes have been analysed, to search for genetic variants which might be associated with the occurrence of intracranial aneurysms. Our question is: is the association described in our observation fortuitous or do these diseases share a same genetic predisposition? Our observation also supports the hypothesis of a genetic participation in the genesis of cerebral aneurysms.