Journal of child neurology
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This study sought to evaluate the radiological and clinical spectrum of posterior reversible encephalopathy syndrome (PRES) in pediatric population. A retrospective evaluation of the pediatric patients with posterior reversible encephalopathy syndrome seen over the last 5 years in the authors' hospital was done. The magnetic resonance imaging (MRI) findings were analyzed, and a review of literature was performed. ⋯ Frontal involvement was common and seen in 56% of the cases. Overall, MRI findings considered atypical in adults were found to be common in the series of pediatric posterior reversible encephalopathy syndrome. The understanding of the clinical settings and familiarity with radiological findings in pediatric posterior reversible encephalopathy syndrome patients is important to adequately treat these patients and to avoid misdiagnosis.
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Multicenter Study
Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.
Friedreich ataxia is a progressive degenerative disease with neurologic and cardiac involvement. This study characterizes comorbid medical conditions in a large cohort of patients with Friedreich ataxia. Patient diagnoses were collected in a large natural history study of 641 subjects. ⋯ Four subjects were growth hormone deficient, reflecting a prevalence in Friedreich ataxia that is 28 times greater than the general population. The present study identifies specific diagnoses not traditionally associated with Friedreich ataxia that are found at higher frequency in this disease. These associations could represent coincidence, shared genetic background, or potentially interactive disease mechanisms with Friedreich ataxia.
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Nusinersen (ISIS-SMNRx or ISIS 396443) is an antisense oligonucleotide drug administered intrathecally to treat spinal muscular atrophy. We summarize lumbar puncture experience in children with spinal muscular atrophy during a phase 1 open-label study of nusinersen and its extension. During the studies, 73 lumbar punctures were performed in 28 patients 2 to 14 years of age with type 2/3 spinal muscular atrophy. ⋯ Most common adverse events were headache (n = 9), back pain (n = 9), and post-lumbar puncture syndrome (n = 8). In a subgroup analysis, adverse events were more frequent in older children, children with type 3 spinal muscular atrophy, and with a 21- or 22-gauge needle compared to a 24-gauge needle or smaller. Lumbar punctures were successfully performed in children with spinal muscular atrophy; lumbar puncture-related adverse event frequency was similar to that previously reported in children.
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The aims of this study were to investigate comorbid psychiatric disorders and to identify anxiety and depression levels and quality of life in children and adolescents with migraine; and to assess their relationship with migraine. ⋯ In children and adolescents with migraine, treatment of psychiatric disorders in addition to migraine therapy can facilitate migraine management and may decrease the need for prophylactic therapy.
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Stereotactic biopsies are procedures that enable neurosurgeons to obtain tissue samples of brain tumors located in eloquent areas with a low risk of perioperative complications. In this study, we examined stereotactic procedures (STX) in children. We focused on effectiveness, safety, and histopathological results to evaluate the benefits of the procedure. ⋯ Stereotactic procedures are accurate and save surgeries to obtain tumor tissue from eloquent areas to base further therapy on. This not only applies to adults but also to children of all ages.