Our study confirms the high diagnostic value of RH, SDH, and signs of impact for the differential diagnosis between AT and IHI. The evaluation of head injuries in infants requires a high level of awareness and thorough and systematic examination by a trained multidisciplinary team.
Long-term follow-up of shunted children is necessary to evaluate the real incidence of SI and the functional outcome after SI.
BPPC is a neurosurgical emergency. Anal extrusion is present in only a minority of patients; the diagnosis of BPPC is often difficult, delayed, and its incidence is likely underestimated. The majority of patients can be treated with a new peritoneal shunt after cure of the infection.
Subdural hematomas were significantly correlated with RH and with child abuse but not with idiopathic macrocranium. The sensitivity and specificity of RH for the diagnosis of child abuse were 75 and 93.2%, respectively. Retinal hemorrhages associated with accidental trauma were always mild, and the specificity of more severe RH for the diagnosis of child abuse was 100%. The grading of RH requires the expertise of a trained neuroophthalmologist. Child abuse was also significantly associated with antecedents of perinatal illness, absence of signs of impact, and seizures on presentation. Although child abuse represented just 38% of traumas, it was the cause of 71% of deaths and 90% of severe disability in this series. Abuse and the clinical severity on presentation were two significant and independent factors conditioning outcome.
The outcome of pediatric hydrocephalus, including surgical complications, neurological sequelae and academic achievement, has been the matter of many studies. However, much uncertainty remains, regarding the very long-term and social outcome, and the determinants of complications and clinical outcome. In this paper, we review the different facets of outcome, including surgical outcome (shunt failure, infection and independence, and complications of endoscopy), clinical outcome (neurological, sensory, cognitive sequels, epilepsy), schooling and social integration. We then provide a brief review of the English-language literature and highlighting selected studies that provide information on the outcome and sequelae of pediatric hydrocephalus, and the impact of predictive variables on outcome. Mortality caused by hydrocephalus and its treatments is between 0 and 3%, depending on the duration of follow-up. Shunt event-free survival (EFS) is about 70% at one year and 40% at ten years. The EFS after endoscopic third ventriculostomy (ETV) appears better but likely benefits from selection bias and long-term figures are not available. Shunt infection affects between 5 and 8% of surgeries, and 15 to 30% of patients according to the duration of follow-up. Shunt independence can be achieved in 3 to 9% of patients, but the definition of this varies. Broad variations in the prevalence of cognitive sequelae, affecting 12 to 50% of children, and difficulties at school, affecting between 20 and 60%, attest of disparities among studies in their clinical evaluation. Epilepsy, affecting 6 to 30% of patients, has a serious impact on outcome. In adulthood, social integration is poor in a substantial number of patients but data are sparse. Few controlled prospective studies exist regarding hydrocephalus outcomes; in their absence, largely retrospective studies must be used to evaluate the long-term consequences of hydrocephalus and its treatments. This review aims to help to establish the current state of knowledge and to identify conflicting data and unanswered questions, in order to direct future studies.
Previous reports have established that the incidence of stroke may be influenced by meteorologic variations. However, no significant correlation was clearly demonstrated concerning aneurysmal bleeding. From January 1, 1989, to December 31, 1991, 238 patients with angiographically confirmed diagnoses of subarachnoid hemorrhage were registered in the North of France region. For each day, the weather variables were provided by the national meteorologic office (Meteo France). We compared the meteorologic variables of days when subarachnoid hemorrhage occurred with the variables of days without subarachnoid hemorrhage in a multivariate model. We observed a seasonal pattern in the occurrence of subarachnoid hemorrhage, with a low frequency of rupture in June and July and maximum frequency in April and September (P < .05). The days of occurrence were associated with short duration of sunshine (P < .00006), low minimal level of hygrometry (P < .0002), low maximal temperature (P < .005), and low atmospheric pressure the day before the event (P < .05). Aneurysmal bleeding was significantly associated with weather variables. Cold-induced hypertension may explain these fluctuations in the occurrence of aneurysmal bleeding.
Mutations in CDH1 encoding the E-cadherin were previously reported in hereditary diffuse gastric cancer as well as in nonsyndromic cleft lip/palate. Mutations in CTNND1 have never been reported before. The encoded protein, p120ctn, prevents E-cadherin endocytosis and stabilizes its localization at the cell surface. Conditional deletion of Cdh1 and Ctnnd1 in various animal models induces features reminiscent of BCD syndrome and underlines critical role of the E-cadherin-p120ctn interaction in eyelid, craniofacial, and tooth development. Our data assert BCD syndrome as a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1 and widen the phenotypic spectrum of E-cadherin anomalies.Genet Med advance online publication 09 March 2017.
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