Prothrombotic factors in neonates with cerebral thrombosis and intraventricular hemorrhage.

AIM: To investigate whether the factor V Leiden mutation (FVL), the prothrombin gene G20210A variant or the methylenetetrahydrofolate reductase (MTHFR) C677T genotype are risk factors for central nervous system (CNS) thrombosis or intraventricular hemorrhage (IVH) in neonates. METHODS: Thirteen full-term infants with cerebral infarct documented with magnetic resonance imaging were assessed with the whole spectrum of assays for thrombophilia including the three DNA-based prothrombotic factors. The frequency of congenital defects was compared with that observed in 38 healthy full-term infants. The genetic defects were also assessed in 55 premature neonates, gestational age <32 wk, 17 of whom developed IVH, grade II-IV. The remaining 38 premature neonates without IVH were used as controls. RESULTS: In the CNS thrombosis group: a prothrombotic factor was detected in 53% of patients and an underlying disease or a triggering event in 61.5%. The frequency of FVL in thrombosed neonates was higher (23%) than in the group of healthy full-term infants (10.5%), although it did not reach statistical significance. IVH developed in 30.9% of premature neonates. Apart from several maternal or neonatal risk factors for IVH, FII G20210A was found in a considerably higher prevalence in the cohort of neonates with IVH (12%) than in those without (2%), although the difference was not statistically significant. CONCLUSION: The pathogenesis of cerebral thrombosis or IVH in neonates is multifactorial. Along with underlying diseases or triggering events, congenital prothrombotic factors (FVL or FII G20210A) showed a trend towards a higher frequency in full-term infants with CNS thrombosis or premature neonates with IVH than in controls. However, their contribution to neonatal cerebral thrombosis or IVH remains to be determined.

Endocarditis por Kingella kingae / Endocarditis for Kingella kingae

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Congenital hemiplegia in children at school age: assessment of hand function in the non-hemiplegic hand and correlation with MRI.

The aim of this study was to evaluate whether children with congenital hemiplegia show abnormal hand function on the non-hemiplegic side and whether this, if present, can be related to the type and extent of brain lesions on MRI. Twenty-two children with congenital hemiplegia of age ranging between 4.8 and 12.3 years, were assessed with a clinical and MRI assessment. Clinical assessment included a structured neurological examination, assessment of hand grips and the Movement Assessment Battery for Children which also includes one item assessing speed and accuracy in each hand. The results showed that 64% of the children studied showed some degree of functional impairment of the non-hemiplegic hand. Manual dexterity 1 from the Movement ABC was, in our experience, a more sensitive tool to detect minor functional abnormalities than the evaluation of hand grips. The severity of the impairment on the non-hemiplegic side was not significantly related to the severity of impairment in the hemiplegic hand (p > 0.05). In contrast, a significant association was found with the site of lesions as hand function in the non-hemiplegic hand was always normal in children with unilateral lesion and abnormal in the ones with bilateral parenchymal lesions (p < 0.05). Children with predominantly unilateral lesions but with bilateral ventricular dilatation or periventricular changes showed more variable results.

Neurological 'soft' signs may identify children with sickle cell disease who are at risk for stroke.

UNLABELLED: Stroke is one of the most frequent complications of sickle cell disease (HbSS), occurring in 7-17% of children. Recent studies recognized more minor lesions on MRI, not associated with clinical signs on standard neurological examination, which however have been found to be a risk factor for developing stroke later. The aim of this study was to evaluate whether minor lesions observed on imaging could be associated with 'soft' neurological signs not detectable on conventional neurological examination. Fourteen children with HbSS were assessed with MRI, standard neurological examination and evaluation of 'soft' signs (Zurich Neuromotor Test) and motor function (Movement ABC). Eight of the 14 children scanned showed lesions on MRI but only 3 of the full cohort were abnormal on standard neurological examination. However, all of the eight children with MRI lesions also showed abnormal signs on at least one of the two tests (Zurich and Movement ABC). All the children with normal MRI were normal on all the tests performed. The sensitivity of Zurich Neuromotor Test and Movement ABC in the group of children with MRI lesions is 0.88 and 0.75, respectively, and increases to 1 when the two tests are used together. The specificity of both tests is 1 even when the tests are used separately. CONCLUSION: Although the number of cases is small, 'soft' signs may reliably identify the presence of even minor MRI lesions, allow the evaluation of the global incidence of major and minor neurological signs and may also help to identify the population at risk for developing strokes. This population could then be closely monitored and benefit from early intervention.

Late magnetic resonance imaging and clinical findings in neonates with unilateral lesions on cranial ultrasound.

Twenty-two neonates (11 term and 11 preterm) with predominantly unilateral hemispheric lesions on ultrasound were re-examined clinically and by magnetic resonance imaging (MRI) at between two and nine years of age. The aim was to correlate early ultrasound and late MRI findings with the development of hemiplegia. At follow-up, five children were normal and 15 had hemiplegia, which was mild in seven and moderate in 10. The presence or absence of hemiplegia, or its severity, could not be predicted from either early ultrasound or later MRI appearances.

Evolution of early hemiplegic signs in full-term infants with unilateral brain lesions in the neonatal period: a prospective study.

Neonates with unilateral hemispheric lesions detected by imaging in the newborn period are at risk for developing hemiplegia. Five full-term infants with predominantly unilateral lesions identified by cranial ultrasound in the neonatal period and confirmed with MRI were examined clinically at regular intervals in order to establish the development, incidence and evolution of later hemiplegia and the evolution of hemiplegic signs. In the neonatal period the infants had either a normal examination or subtle transient abnormalities. Abnormalities were not seen until 6 months of age in infants who developed hemiplegia. The number of hemiplegic signs in each child increased with time, the earlier the signs appeared the more severe the hemiplegia. In some infants deterioration with loss of preexisting skills was observed. At 24 months two of the infants were normal, one had a mild and two a moderate hemiplegia.

Prediction of outcome in children with congenital hemiplegia: a magnetic resonance imaging study.

The degree of Wallerian degeneration (WD) in the corticospinal tracts seen with magnetic resonance imaging (MRI) was correlated with the distribution and severity of congenital hemiplegia in 20 children aged nine months to nine years. All the children had hemispheric lesions diagnosed with ultrasound in the neonatal period: MRI and clinical assessment were performed from nine months to nine years of age. Hemiplegia was graded as mild, moderate or severe and into predominantly upper or lower limb distribution. WD was assessed by the presence or absence of signal intensity changes in the internal capsule on inversion recovery and spin echo sequences and by the asymmetry of the upper brainstem. The degree of asymmetry was estimated by measuring the cross sectional area (CSA) of the brainstem at three levels and calculating the ratio of the measurements between the side of the lesion and the unaffected side. Infarct size was estimated from the CSA of the infarct at the maximum site of the lesion. Both measurements were correlated with the severity of outcome and the site of involvement. There was a better correlation between severity of outcome and brainstem asymmetry (p = 0.003) than severity of outcome and infarct size (p = 0.02). There was also a significant correlation between upper limb involvement and brainstem asymmetry (p = 0.01). As WD estimated by brainstem asymmetry appears early and is easy to measure, it may be a good marker to estimate later impairment in infants with predominantly unilateral hemispheric haemorrhagic/ischaemic lesions diagnosed in the neonatal period.

Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease.

The pathophysiology of startle disease (hyperekplexia) is unknown. Hyperactivity of the brainstem reticular formation has been suggested as a cause. We report a newborn infant with classic features of startle disease in whom cerebrospinal fluid (CSF) concentrations of gamma-aminobutyric acid (GABA) were substantially lower than normal during the first weeks of life. She improved greatly on clonazepam treatment. We suggest that the signs of this disorder may be due to a genetic defect or to delayed maturation resulting in low CSF GABA.