Neuropediatrics
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The Aicardi-Goutières syndrome (AGS) was first described in 1984, and over the following years was defined by the clinical and radiological features of an early onset, severe, neurologic disorder with intracranial calcification, leukoencephalopathy, and cerebral atrophy, usually associated with a cerebrospinal fluid (CSF) pleocytosis and elevated CSF interferon α activity. It is now recognized that mutations in any of the following seven genes may result in the classical AGS phenotype: TREX1 (AGS1), RNASEH2A (AGS2), RNASEH2B (AGS3), RNASEH2C (AGS4), SAMHD1 (AGS5), ADAR1 (AGS6), and IFIH1 (AGS7). All of these genes encode proteins involved in nucleotide metabolism and/or sensing. ⋯ As more patients harboring mutations in these genes have been described, in particular facilitated by the advent of whole exome sequencing, a remarkably broad spectrum of associated neurologic phenotypes has been revealed, which we summarize here. We propose that the term AGS has continued clinical utility in the designation of a characteristic phenotype, which suggests relevant diagnostic investigations and can inform outcome predictions. However, we also suggest that the use of the term "type 1 interferonopathy" is appropriate for the wider spectrum of disease consequent upon dysfunction of these genes and proteins since it implies the possibility of a common "anti-interferon" approach to therapy as such treatments become available.
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Objective In this retrospective study, we aimed to assess frequency, types, and long-term outcome of neurological disease during acute Mycoplasma pneumoniae (M. pneumoniae) infection in pediatric patients. Materials and Methods Medical records of patients hospitalized with acute M. pneumoniae infection were reviewed. Possible risk factors were analyzed by uni- and multivariate regression. ⋯ Long-term follow-up after a median of 5.1 years (range, 0.6-13 years) showed ongoing neurological deficits in the EDSS in 8/18, and in the KOPKJ in 7/17. Conclusion Neurological symptoms occurred in 25% of hospitalized pediatric patients with M. pneumoniae infection. Outcome was often favorable, but significant sequels were reported by 45%.
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Under the umbrella of pediatric-acquired demyelinating syndromes, there is a multitude of disorders, including optic neuritis, transverse myelitis, acute disseminated encephalomyelitis (ADEM), multiple sclerosis (MS), and neuromyelitis optica spectrum disorders (NMOSD). Due to overlapping clinical and magnetic resonance imaging (MRI) features, it can be challenging to provide an accurate diagnosis. In view of therapeutic and prognostic implications, an early and reliable diagnosis is however of utmost importance. ⋯ We describe the clinical and MRI presentation of five children presenting with an acute, severe central nervous system inflammatory disease involving the brain and spinal cord, all of whom were positive for MOG-IgG antibody. Encephalopathy was uncommon at presentation and all had quick resolution of symptoms with intravenous steroid and intravenous immunoglobulin (IVIG) treatment. All patients recovered well, and have been treated with IVIG to potentially prevent relapses.
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Rhombencephalosynapsis is a hindbrain malformation characterized by complete or partial absence of the cerebellar vermis, with varying degrees of midline continuity of cerebellar hemispheres, dentate nuclei, and in some patients of the superior cerebellar peduncles. Partial rhombencephalosynapsis usually consists of a segmental deficiency of posterior vermis. Although prenatal diagnosis of rhombencephalosynapsis is feasible by ultrasound and magnetic resonance imaging both, partial rhombencephalosynapsis might be difficult to detect, especially at an early gestational age. We report two fetal cases of atypical partial rhombencephalosynapsis, with deficiency of anterior vermis, detected by prenatal magnetic resonance imaging at 21st and 23rd week of gestation, respectively.
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The diagnostic work up of neurometabolic/degenerative disorders is complex. In such context, identification of neuroradiological features suggestive of specific diagnoses is useful to prompt further diagnostic tests. Involvement of the inferior olivary nucleus (ION) has been reported in several pathologic conditions, either as a primary manifestation of disease or secondary to hypertrophic olivary degeneration (HOD). ⋯ Two main neuroradiological patterns, that is, "T2-hyperintense signal" and "T2-hyperintense signal with enlargement" are found. These patterns can be related to different etiologies, and do not suggest specific diagnoses. Primary ION lesion can be characterized by olivary swelling, and the differentiation from typical secondary HOD may be difficult.