Neurological symptoms in children with intussusception
Acta Pediatrica, 08/12/2009
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Kleizen KJ et al. – Intussusception should be considered in the differential diagnosis in young children presenting with lethargy, hypotonia and/or sudden alterations of consciousness even in the absence of the classical symptoms of intussusception.
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Truncal Ataxia, Hypotonia, and Motor Delay With Isolated Rhombencephalosynapsis
Pediatric Neurology, 08/17/2009
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Kruer MC et al. – The authors report on a 16–month–old girl with developmental motor delay, microcephaly, and mild truncal ataxia who was revealed to have rhombencephalosynapsis on magnetic resonance
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Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient
American Journal of Medical Genetics, 10/21/2009
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Xiong H et al. – The patient presented with neonatal hypotonia, seizures, and delayed motor and speech development. Additional testing revealed cerebral and cerebellar gyrus abnormalities with white matter
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Role of age, bowel function and parity on anorectocele pathogenesis according to cinedefecography and anal manometry evaluation
Colorectal Disease, 10/16/2009
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Anorectocele is not correlated with parity, age, episiotomy, delivery of a large baby and anismus. It was more frequent in patients with severe constipation and less common in patients with anal hypotonia.
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Early Myoclonic Encephalopathy and Nonketotic Hyperglycinemia
Pediatric Neurology, 10/20/2009
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neonatal form is a severe, frequently lethal neurologic disease. When associated with electro–clinical features, progressive lethargy and hypotonia occur in the first days of life, progressing to apnea and often death. Prospective treatment with oral sodium benzoate, the N–methyl–d
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Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype
The Journal of Pediatrics, 10/09/2009
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mat syndrome." This syndrome demonstrates a PWS–like phenotype particularly during infancy. The MEG3 methylation test can detect upd(14)mat syndrome defects and should therefore be performed for all undiagnosed infants with hypotonia.
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Neurobehavioral Assessment Predicts Motor Outcome in Preterm Infants
The Journal of Pediatrics, 11/03/2009
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Stephens BE et al. – Low PDI was associated with low handling, low quality of movement, and hypotonia. The model contributed 26% of the variance in PDI <70 at 24 months.The neurobehavioral profile of under–arousal in 44–week–old
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