Journal of child neurology
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Abusive head trauma has a robust and interesting scientific history. Recently, the American Academy of Pediatrics has endorsed a change in terminology to a term that is more general in describing the vast array of abusive mechanisms that can result in pediatric head injury. Simply defined, abusive head trauma is "child physical abuse that results in injury to the head or brain." Abusive head trauma is a relatively common cause of childhood neurotrauma, with an estimated incidence of 16 to 33 cases per 100,000 children per year in the first 2 years of life. ⋯ Longitudinal studies of outcomes in abusive head trauma patients demonstrate that approximately one-third of the children are severely disabled, one third of them are moderately disabled, and one third have no or only mild symptoms. Abusive head trauma cases are complex cases that require a rigorous, multidisciplinary team approach. The clinician can establish this diagnosis with confidence if he/she maintains a high index of suspicion for the diagnosis, has knowledge of the signs, symptoms, and risk factors of abusive head trauma, and reasonably excludes other etiologies on the differential diagnosis.
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Neuroimaging is commonly used for the assessment of children with traumatic brain injury and has greatly advanced how children are acutely evaluated. More recently, emphasis has focused on how advanced magnetic resonance imaging methods can detect subtler injuries that could relate to the structural underpinnings of the neuropsychological and behavioral alterations that frequently occur. We examine several methods used for the assessment of pediatric brain injury. ⋯ These methods are more sensitive than conventional imaging in demonstrating subtle injury that underlies a child's clinical symptoms. There also is an increasing desire to develop computational methods to fuse imaging data to provide a more integrated analysis of the extent to which components of the neurovascular unit are affected. The future of traumatic brain injury neuroimaging research is promising and will lead to novel approaches to predict and improve outcomes.
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Primary diffuse leptomeningeal gliomatosis is a disease with an aggressive course that can result in death. To date, 82 cases have been reported. Here, the case of a 3-year-old male patient presenting with strabismus, headache, and restlessness is reported. ⋯ Tuberculous meningitis was tentatively diagnosed, and antituberculosis treatment was initiated when cranial imaging revealed contrast enhancement around the basal cistern. Craniocervical magnetic resonance imaging (MRI) was performed when there was no response to treatment, and it revealed diffuse leptomeningeal contrast enhancement around the basilar cistern, in the supratentorial and infratentorial compartments, and in the spinal region. Primary diffuse leptomeningeal gliomatosis was diagnosed by a meningeal biopsy.
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Case Reports
Mowat-Wilson syndrome: deafness in the first Egyptian case who was conceived by intracytoplasmic sperm injection.
Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene. The syndrome is characterized by typical facial features, moderate-to-severe mental retardation, epilepsy and variable congenital malformations, including Hirschsprung disease, genital anomalies, congenital heart disease, agenesis of the corpus callosum, and eye defects. ⋯ The patient manifested bilateral sensorineural hearing loss--a new feature not previously reported in cases of Mowat-Wilson syndrome. This report describes the first Egyptian patient of Mowat-Wilson syndrome who was conceived after intracytoplasmic sperm injection, and provides a new evidence for the inclusion of deafness among the congenital defects of the syndrome.