Non-invasive 31P magnetic resonance spectroscopy revealed McArdle disease in an asymptomatic child.

Détails

ID Serval
serval:BIB_F1983FFEF360
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Non-invasive 31P magnetic resonance spectroscopy revealed McArdle disease in an asymptomatic child.
Périodique
European Journal of Pediatrics
Auteur⸱e⸱s
Gruetter R., Kaelin P., Boesch C., Martin E., Werner B.
ISSN
0340-6199 (Print)
ISSN-L
0340-6199
Statut éditorial
Publié
Date de publication
04/1990
Volume
149
Numéro
7
Pages
483-486
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
A Turkish couple suffering from McArdle disease (myophosphorylase deficiency) and their two sons aged 5 and 9 years, respectively, were studied using 31phosphorus magnetic resonance spectroscopy (31P MRS). During exercise both sons showed the same pathological pattern as their parents. In contrast to healthy volunteers, intracellular pH (pHi) as measured by 31P MRS every 10 s during exercise, never fell below the lower 95% confidence limit (6.94) of pHi at rest (7.06), but tended to be raised. It is of special interest that the 5-year-old boy was completely asymptomatic, although the enzyme defect seems to be fully expressed at the cellular level.
Mots-clé
Adult, Child, Child, Preschool, Exercise Test, Glycogen Storage Disease Type V/diagnosis, Humans, Magnetic Resonance Spectroscopy, Male, Phosphorus/diagnostic use, Physical Exertion
Pubmed
Création de la notice
04/08/2010 16:28
Dernière modification de la notice
20/08/2019 17:19
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