Journal of Pediatric Neurology - Volume 10, issue 1
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Journal of Pediatric Neurology is an English multidisciplinary peer-reviewed medical journal publishing articles in the fields of child neurology, pediatric neurosurgery, pediatric neuroradiology, child psychiatry and pediatric neuroscience.
Journal of Pediatric Neurology encourages submissions from authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, rapid communications, case reports, letters to the editor and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines that work in the field of pediatric neurology.
Abstract: Post-pump chorea is the development of choreo-athetoid movements within 2 wk following cardiopulmonary bypass, typically after an initial asymptomatic period. Choreoathetosis after congenital heart surgery has been described since 1960. It is seen in 1% to 3% of patients, from older infants to those in mid-childhood, and can be severe and irreversible, with a significant death rate. It is associated with orofacial dyskinesias, hypotonia, ballismus, supranuclear gaze palsy, affective changes and pseudobulbar signs. We describe…a child who developed post-pump chorea after cardiac surgery, along with our management of this case. This is followed by a literature review of this rare but interesting condition.
Abstract: The term congenital muscular dystrophy (CMD) refers to a group of inherited disorders in which muscle weakness is present at birth. The Fukuyama-type CMD is an independent subtype of progressive muscular dystrophy in Japan. This report presents the case of a 13-year-old male who applied to our clinic and was diagnosed as CMD similar to the Fukuyama-type based on the results of the genetic analysis. The most frequently defined mutation in these patients is on the…fukutin-related protein gene whereas in the present case, one missense mutation in the fukutin gene has been detected. To our knowledge, the case described in this report is the first reported case of one missense mutation in the fukutin gene c.1336A>G (p.Asn446Asp) producing a phenotype similar to the Fukuyama-type.
Abstract: Isolated sulfite oxidase deficiency is a rare but devastating autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy mimicking hypoxic-ischemic insult with intractable seizures and profound neurological dysfunction. Infants who survive characteristically manifest severe psychomotor retardation, progressive microcephaly, spastic quadriparesis, opisthotonus, movement disorders and lens dislocation. Sulfite oxidase is a mitochondrial enzyme encoded by the SUOX gene and is essential for the detoxification of sulfite, the terminal reaction in the…degradation of sulfur-containing amino acids. Laboratory evidence of the disease includes a positive urinary sulfite dipstick test, abnormal amino acid profile with elevated plasma or urinary S-sulfocysteine level, high taurine and reduced cysteine concentration in plasma whilst serum uric acid and urinary excretion of uric acid, xanthine and hypoxanthine are normal. Brain magnetic resonance imaging demonstrates a pattern reminiscent of that observed in hypoxic-ischemic encephalopathy characterized by temporal alterations of initial cerebral edema and later severe white matter cavitary changes representing cystic encephalomalacia. In the absence of perinatal asphyxia, isolated sulfite oxidase deficiency should prompt appropriate biochemical evaluation. This report describes a male infant who presented with neonatal seizures and neuroimaging findings suggestive of ischemic encephalopathy.