Journal of child neurology
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Case Reports
Intermediate maple syrup urine disease: neuroimaging observations in 3 patients from South India.
Maple syrup urine disease is a disorder of branched-chain keto acid metabolism. Three children were diagnosed with the intermediate form of maple syrup urine disease during routine evaluation of mental retardation. Clinical features were characterized by mental retardation, seizures, autistic features, and movement disorder in the form of dystonia. ⋯ Magnetic resonance imaging showed diffuse hyperintense signals in the white matter along with involvement of the thalami and globus pallidus. Magnetic resonance imaging in the intermediate form showed myelination in the posterior limb of the internal capsule, in contrast to the classic form of the disease. Knowledge about the neuroimaging findings of this rare disease will help to narrow down the differential diagnosis when evaluating children with unexplained mental retardation and seizures.
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Elevation and blur of the optic disc margin with hyperemia and flame hemorrhages are classic features of papilledema that may not be present with mild elevations of the cerebral spinal fluid pressure. In children, the disc can be dramatically elevated with indistinct margins in pseudopapilledema. Children with equivocal disc features are sedated for neuroimaging and lumbar puncture to measure opening intracranial pressure.
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Progressive respiratory muscle weakness with bulbar involvement is the main cause of morbidity and mortality in type I and severe type II spinal muscular atrophy. Noninvasive positive pressure ventilation techniques coupled with laparoscopic gastrointestinal procedures may allow for improved morbidity and mortality. The authors present a series of 7 spinal muscular atrophy patients (6 type I and 1 severe type II) who successfully underwent laparoscopic gastrostomy tube insertion coupled with Nissen fundoplication and early postoperative extubation using noninvasive positive pressure ventilation techniques. ⋯ By August 2006, 5 patients with type I and 1 with severe type II spinal muscular atrophy were alive and medically stable at home 1.5 months to 41 months post-op. One patient with type I expired approximately 5 months post-op due to obstructive apnea. This case series demonstrates that laparoscopic gastrostomy tube placement coupled with Nissen fundoplication and noninvasive positive pressure ventilation can be successfully used as a treatment option to allow for early postoperative extubation and to optimize quality of life in type I and severe type II spinal muscular atrophy patients.
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We report an 8-year-old white girl with no previous medical history who developed sudden onset right hemiplegia, left gaze preference, and global aphasia. An acute left middle cerebral artery stroke syndrome was diagnosed. She was treated with intravenous recombinant tissue plasminogen activator, 2 hours after the onset of symptoms. ⋯ She was also able to raise the right arm up to the level of the shoulder and showed increased motility of the hand and fingers. No treatment-related complications happened. To the best of our knowledge, this is, so far, the youngest child successfully treated with intravenous recombinant tissue plasminogen activator for acute ischemic stroke.
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Severe scoliosis in Rett syndrome is an important orthopedic, neurologic, and pediatric problem. The curve in Rett syndrome is of a neurologic type, has its highest incidence during early childhood, and shows rapid progression. In this study, the authors report the results of a 4-year follow-up of a 10-year-old Rett syndrome female patient with early onset and severe rapid progressive thoracolumbar scoliosis. ⋯ Operative treatment regimes and etiology of severe spinal deformities in Rett syndrome were discussed. The high perioperative risks in Rett syndrome patients who underwent spinal surgery may be reduced by an early cooperation between orthopedic and pediatric specialists. When considering recent data from literature, it can be concluded that an early correction of spine deformities in Rett syndrome patients may prevent a life-threatening collapsing spine syndrome.