Journal of child neurology
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We present a 7-year-old boy with acute cerebellitis who required an emergency ventriculoperitoneal shunt for hydrocephalus caused by cerebellar swelling. This represents a very unusual, potentially life-threatening complication of a usually self-limiting condition. ⋯ In developing countries, however, computed tomography (CT) is often the only existing diagnostic modality, and access to MRI, when available, is limited. Our case demonstrates that the shape of the fourth ventricle on CT can be helpful in differentiating between a tumor and edema of the cerebellum and thus can assist in management.
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We evaluated early diffusion-weighted imaging findings, the quantitative apparent diffusion coefficient, and magnetic resonance spectroscopy (the presence of lactate and ratios of N-acetylaspartate to total creatine and choline to total creatine) in the prediction of the 18-month neuromotor outcome of term newborns with hypoxic-ischemic encephalopathy. Conventional T1- and T2-weighted and diffusion-weighted imaging was performed in 20 asphyxiated term newborns, with additional basal ganglia magnetic resonance spectroscopy in 15 newborns between 2 and 18 days of life (mean 7.3 days). Neuromotor outcome was dichotomized into normal and abnormal for statistical analysis. ⋯ The presence of a lactate peak for predicting an abnormal outcome had a sensitivity of 100% and a specificity of 80%, and the odds ratio was 37.4. Ischemic lesions were more conspicuous and/or extensive on diffusion-weighted imaging in all except one neonate. The presence of normal findings on both diffusion-weighted imaging and conventional magnetic resonance imaging is predictive of a normal neuromotor outcome, whereas lactate and a reduced ratio of N-acetylaspartate to total creatine in the basal ganglia, but not an apparent diffusion coefficient, are associated with an abnormal outcome at 18 months of age.
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Tuberous sclerosis complex is a multisystem genetic disorder. Of all the possible manifestations of this complex disorder, the cognitive and behavioral problems represent the area of greatest concern to parents and caregivers. This review outlines the current evidence regarding global intellectual abilities, behavioral problems, psychiatric diagnoses, learning disorders, and specific neuropsychologic deficits for which individuals with tuberous sclerosis complex are at particularly increased risk, and outlines approaches to intervention. ⋯ Those with normal intellectual abilities are also at high risk of specific neuropsychologic deficits and behavioral, learning, and other psychiatric disorders. There is no evidence for an inevitable decline in cognition or behavior, and any such changes should be investigated. The evolving neurocognitive literature suggests that frontal brain systems might be most consistently disrupted by tuberous sclerosis complex-related neuropathology, thus leading to abnormalities in regulatory and goal-directed behaviors.
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The pharyngeal-cervical-brachial variant of Guillain-Barré syndrome is uncommon but well recognized in the adult literature. Patients have weakness in a pharyngeal-cervical-brachial distribution with relative lower limb sparing. ⋯ This case illustrates that the clinical spectrum of Guillain-Barré syndrome in children includes the pharyngeal-cervical-brachial variant, which is distinct from Miller-Fisher syndrome. Atypical Guillain-Barré syndrome should be considered in the differential diagnosis of a child presenting with bulbar palsy and/or respiratory failure.
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We report an infant born with lumbosacral agenesis, a subcutaneous lumbosacral mass, and a solitary median maxillary incisor. Operatively, a lipomyelomeningocele was noted to extend from the dorsal hemicord of a split cord malformation. Genetically, the child was found to have a defect on chromosome 7q. ⋯ Furthermore, to our understanding, this is only the fourth reported case of split cord malformation in which the hemicords are oriented in the sagittal plane and one of only a few cases reported in the medical literature of simultaneous occurrence of lumbosacral agenesis and occult spinal dysraphism, that is, split cord malformation and lipomyelomeningocele. Following a review of the medical literature, and considering that our patient did indeed have dysmorphology of chromosome 7q, we hypothesize that this single defect resulted in both cranial and caudal deformation, as exemplified by our patient. We review the medical literature for related case reports and potentially related chromosomal abnormalities and various teratogenic substances.