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Pediatric Neurology

Chapter 124. Creutzfeldt–Jakob disease

By: Thierry Billette de Villemeur

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Pediatric Neurology

Chapter 124. Creutzfeldt–Jakob disease

By: Thierry Billette de Villemeur

Prion diseases are rare in children. Three types are known: kuru, variant Creutzfeldt–Jakob disease (CJD), and iatrogenic CJD. All three affect children and young adults, and are transmitted by infectious contamination. Kuru was the result of ritual funeral practices similar to cannibalism; variant CJD affects young people who have eaten meat from cows with mad cow disease (mostly in the UK); and iatrogenic CJD is secondary to graft of human tissues performed in the 1980s (dura mater, pituitary extracted growth hormone). The disease appears after 4–30 years of incubation. The initial symptomatology is frequently neurological (cerebellar ataxia, oculomotor disturbance, peripheral nerve pain, pyramidal syndrome) followed by dementia. There is no biological test available that can give a definite diagnosis of prion disease apart from neuropathology, although prion accumulation in vCJD can be demonstrated in pharyngeal tonsil by immunohistochemical techniques. This devastating disease results inevitably in death. No specific treatment is available.

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Page Count

14

Publisher

Elsevier Inc. Chapters

Published Date

ISBN 10

0128079258

ISBN 13

9780128079256

Pediatric Neurology Part III

Chapter 175. Gaucher disease

By: Cyril Mignot,Antoinette Gelot,Thierry Billette De Villemeur

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Pediatric Neurology Part III

Chapter 175. Gaucher disease

By: Cyril Mignot,Antoinette Gelot,Thierry Billette De Villemeur

Gaucher disease is an autosomal recessive condition due to glucocerebrosidase deficiency responsible for the lysosomal accumulation of glucosylceramide, a complex lipid derived from cell membranes, mainly in macrophages. It is due to mutations mostly in the GBA gene, although saposine C deficiency is due to mutations in the PSAP gene. It encompasses an extremely heterogeneous spectrum of clinical involvement from the fetus to adulthood. Splenomegaly, blood cytopenia, and bone involvement are the main manifestations of Gaucher disease, but nervous system degeneration is observed in about 5–10% of patients. The accumulation in neurons of glucosylceramide and its derivative, psychosine, are thought to underlie neuronal dysfunction and death, although Gaucher cells that mostly accumulate such substances are mainly macrophages. Enzyme replacement therapy dramatically improves the outcome of patients because of its extreme efficacy in the treatment of the systemic involvement. However, it has only limited effects on most neurological signs.

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24

Publisher

Elsevier Inc. Chapters

Published Date

ISBN 10

0128084413

ISBN 13

9780128084410