RESUMEN
Untreated congenital toxoplasmosis remains an important cause of neurologic and ocular disease worldwide. However, congenitally infected infants may not have signs and symptoms their physicians recognize, leading to delayed diagnosis and missed opportunities for treatment. We describe a pair of twins diagnosed with congenital toxoplasmosis at 11 months of age following incidental detection of leukocoria in one twin.
Asunto(s)
Megalencefalia/etiología , Trastornos de la Pupila/etiología , Toxoplasmosis Congénita/diagnóstico , Diagnóstico Tardío , Femenino , Humanos , Hallazgos Incidentales , Lactante , Masculino , Gemelos DicigóticosRESUMEN
BACKGROUND/PURPOSE: Blunt cerebrovascular injury (BCVI) is clinically challenging because these injuries are hard to detect and can have serious neurological consequences, and optimal screening criteria have not been established for children. This study aims to determine risk factors for BCVI in pediatric patients and to evaluate screening practices in a single institutional series. METHODS: A retrospective review of all pediatric blunt trauma patients evaluated over a 10-year period was performed. Demographic, clinical, and radiographic data were reviewed, including the presence of adult risk factors for BCVI. Logistic regression analyses were performed with statistical significance established at p<0.05. RESULTS: Of the 11,596 patients evaluated during the study period, 1018 (8.8%) had at least one adult risk factor for BCVI, but only 62 (6.1% of those with risk factors) underwent angiographic evaluation. Overall, 11 BCVIs were observed, resulting in an incidence of 0.095%. All 11 patients with BCVI had at least one risk factor. Multivariate logistic regression analysis identified cervical spine fracture (OR 36.88 [8.36, 169.95]), GCS score ≤ 8 (OR 16.42 [2.16, 102.33]), male gender (OR 10.52 [1.33, 363.30]), Le Fort II or III facial fracture (OR 63.71 [2.16, 1124.68]), and ISS (unit OR 1.10 [1.04, 1.17]) as independent risk factors for BCVI. CONCLUSION: Adult screening criteria for BCVI appear appropriate for pediatric patients, but most at-risk children are not being screened. LEVEL OF EVIDENCE: Level III (retrospective case-control study).
Asunto(s)
Insuficiencia de Crecimiento/genética , Péptidos y Proteínas de Señalización Intracelular/genética , Trastornos del Desarrollo del Lenguaje/genética , Mutación , Proteínas del Tejido Nervioso/genética , Secuencia de Bases , Proteínas de Ciclo Celular , Insuficiencia de Crecimiento/patología , Expresión Génica , Heterocigoto , Humanos , Lactante , Trastornos del Desarrollo del Lenguaje/patología , Microcefalia/genética , Microcefalia/patología , Datos de Secuencia MolecularRESUMEN
Acquired white matter abnormalities in children may be due to a broad spectrum of disorders, with the most significant related to metabolic and toxic etiologies. Recognition of the imaging appearance of neonatal hypoglycemia, nonketotic hyperglycemia, hyperammonemia, hepatic encephalopathy, and central pontine myelinolysis (CPM) is essential because prompt correction of the underlying metabolic abnormality may limit and, in some cases, reverse the cerebral damage. Toxic leukoencephalopathies encompass disorders caused by iatrogenic administration of pharmacologic agents and radiation therapy, poisoning by household substances, and recreational drug use. Although medication-induced leukoencephalopathies often show a propensity for reversibility of clinical and radiologic findings upon discontinuation of the offending substance, recreational drugs may cause white matter toxicity that often portends a poorer prognosis. Our discussion focuses on the clinical aspects, pathophysiological mechanisms, and imaging features of commonly encountered acquired metabolic and toxic leukoencephalopathies in the pediatric population.