Neuropediatrics
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Surveillance of cerebral palsy in Europe (SCPE) presents the first population-based results on neuroimaging findings in children with cerebral palsy (CP) using a magnetic resonance imaging classification system (MRICS). ⋯ Analysis of MRI in the European CP database identified CP as a mainly lesional condition on a large population basis, maldevelopments were relatively uncommon. An exception was ataxic CP. Children born preterm mostly presented with a lesion typical for their gestational age (GA) at birth. The decreasing prevalence of CP in this group suggests that progress in perinatal and neonatal medicine may lead to a reduction of these lesions.
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Mutations in B3GALNT2, encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2-related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2. ⋯ These findings could expand the phenotype of B3GALNT2-related dystroglycanopathy. In this report, we also provide a detailed review of previously reported cases with B3GALNT2-related dystroglycanopathy and compare them to our reported child. In addition, we study the genotype-phenotype correlation in these cases.
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Basal ganglia infarction in young children, mostly after mild head trauma, has been repeatedly reported. The pathogenesis and the risk factors are not fully understood. Lenticulostriate vasculopathy, usually referred to as basal ganglia calcification, is discussed as one of them. ⋯ In view of the scant literature, this clinic-radiologic entity seems under recognized. We review the published cases and hypothesize that male sex and iron deficiency anemia are risk factors for basal ganglia stroke after minor trauma in the context of basal ganglia calcification in infants. We suggest to perform appropriate targeted neuroimaging in case of infantile basal ganglia stroke, and to consider prophylactic medical treatment, although its value in this context is not proven.
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Myelin oligodendrocyte glycoprotein (MOG) antibodies (abs) are present in one third of all children with an acute demyelinating syndrome (ADS). MOG-abs can be found in acute disseminated encephalomyelitis (ADEM), transverse myelitis, isolated optic neuritis (ON), or recurrent demyelinating diseases, such as multiphasic neuromyelitis optica spectrum disorders (NMOSD) without aquaporin-4 (AQP4) abs or multiphasic ADEM (MDEM), but rarely in children who subsequently develop multiple sclerosis (MS). ⋯ MOG-abs, initially thought to be associated with a benign disease course, are found in a substantial proportion of children with relapsing episodes associated with high and persisting MOG-ab titers. This review describes, in particular, the increasing spectrum of phenotypes associated with MOG-abs with a focus on clinical characteristics, radiological features, and therapeutic aspects.
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Case Reports
Reversible Hypertensive Myelopathy-The Spinal Cord Variant of Posterior Reversible Encephalopathy Syndrome.
The posterior reversible encephalopathy syndrome (PRES) is a well-known clinical and radiologic entity mainly affecting the territory of the posterior cerebral circulation. Spinal cord involvement is extremely rare, and as of yet, only a few cases have been reported in the literature. The present case describes a reversible, longitudinal spinal cord lesion in a patient with high blood pressure. We discuss the differential diagnosis of longitudinal myelopathy and focus on the clinical presentation, diagnosis, and management of the "spinal cord variant of PRES."