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Irish Child Health Database - Peer Reviewed Papers

Database Search

Neurological

Your search returns 3 documents

• 1.   Hereditary cerebral cavernous angiomas: Presentation as idiopathic familial epilepsy

  This case report discusses a cause of familial epilepsy that also emphasises the importance of MRI as the modality of choice in investigating seizures in children - Hereditary cerebral cavernous angiomas

  

  Abstract:

  In cavernous angiomas of the brain, abnormally dilated blood vessels are tightly clustered together with no intervening neural parenchyma. Commonly recognised as a sporadic finding, these lesions may also be inherited in an autosomal dominant fashion. This disorder was recognised as a common entity with the advent of MRI. As lesions were often not detected on CT imaging, symptomatic more...

  International Classification:

  Neurological

  Categories:

  epilepsy

  Geography:

  Republic of Ireland

  Irish Medical Journal, Vol: 95 Page: 56-58 2002
  D. Coghlan; B. Lynch; D. Allcutt

  [Preview] [Read]

• 2.   Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype

  This case report discusses profound neurological presentation resulting from homozygosity - for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype

  

  International Classification:

  Neurological

  Categories:

  neurological abnormalities

  Geography:

  Republic of Ireland

  J Inherit Metab Dis, Vol: 26 Page: 72-4 2003
  E. P. Treacy; A. Lee-Chong; G. Roche; B. Lynch; S. Ryan; S. Goodman

  [Preview] [Read]

• 3.   Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy

  This case report discusses a rare case of straight-chain acyl-CoA oxidase deficiency (McKusick 264470) presenting with dysmorphism, neurodevelopmental regression and leukodystrophy

  

  Abstract:

  We report a rare case of straight-chain acyl-CoA oxidase deficiency (McKusick 264470) presenting with dysmorphism, neurodevelopmental regression and leukodystrophy. more...

  International Classification:

  Neurological

  Categories:

  dysmorphism, neurodevelopmental regression and leukodystrophy

  Geography:

  Republic of Ireland

  J Inherit Metab Dis, Vol: 27 Page: 105-8 2004
  M. A. Kurian; S. Ryan; G. T. Besley; R. J. Wanders; M. D. King

  [Preview] [Read]