RESUMO
PURPOSE: Intraventricular hemorrhage is the most important adverse neurologic event for preterm and very low weight birth infants in the neonatal period. This pathology can lead to various delays in motor, language, and cognition development. The aim of this article is to give an overview of the knowledge in diagnosis, classification, and treatment options of this pathology. METHOD: A systematic review has been made. RESULTS: The cranial ultrasound can be used to identify the hemorrhage and grade it according to the modified Papile grading system. There is no standardized protocol of intervention as there are controversial results on which of the temporizing neurosurgical procedures is best and about the appropriate parameters to consider a conversion to ventriculoperitoneal shunt. However, it has been established that the most important prognosis factor is the involvement and damage of the white matter. CONCLUSION: More evidence is required to create a standardized protocol that can ensure the best possible outcome for these patients.
Assuntos
Hemorragia Cerebral Intraventricular/classificação , Hemorragia Cerebral Intraventricular/diagnóstico , Hemorragia Cerebral Intraventricular/terapia , Doenças do Prematuro/classificação , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/terapia , Feminino , Humanos , Hidrocefalia/etiologia , Hidrocefalia/terapia , Recém-Nascido , Recém-Nascido Prematuro , MasculinoRESUMO
Timothy syndrome 1 (TS1) is a multisystem disorder characterized by severe QT prolongation and potentially lethal ventricular arrhythmias in the first years of life, plus other cardiac and extracardiac manifestations caused by mutation in the CACNA1C gene, a CaV1.2 L-type calcium channel. Here, we report retrospectively an unusual fetal presentation on a second patient with TS1 with fetal hydrops due to a congenital AV block and its postnatal diagnosis by a marked prolongation of the corrected QTc interval of 570 ms and a missense mutation, p.Gly406Arg, in exon 8A of CACNA1C gene. The observed manifestations in our patient during fetal period indicate a severe form and they were probably exacerbated by the maternal use of amitriptyline during the first 4 months of pregnancy. Unfortunately, he died at 3 months-old due a ventricular tachycardia and fibrillation related to a septic event. Although difficult to diagnose, possibly most fetuses with TS1 have symptoms of long QT syndrome. Despite the fatal outcome for our patient, an early diagnosis of TS may help to prevent life-threatening events or early death in future patients, especially in developing countries where availability of therapies such as cardioverter defibrillator are very limited, or require time for its funding.