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Proton MR spectroscopy of the lumbar spine in patients with glycogen storage disease type Ib

✍ Scribed by Axel Scherer; Hans-Jörg Wittsack; Volkher Engelbrecht; Stefan Schwarz; Philip May; Ludger Wilhelm Poll; Jens Albrecht Koch; Udo Wendel; Ulrich Mödder

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
165 KB
Volume
14
Category
Article
ISSN
1053-1807

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✦ Synopsis

Abstract

Glycogen storage disease type Ib is an autosomal recessive inherited metabolic disorder resulting from deficiency of the microsomal glucose‐6‐phosphatase enzyme system. Six patients (three of which were treated with granulocyte colony stimulating factor) suffering from this disease were examined using image guided localized proton magnetic resonance (MR) spectroscopy. The relative signal intensities of water and lipid protons of the lumbar spine were determined. Comparison was made with iliac crest biopsies in the glycogen storage disease type Ib patients and localized proton MR spectroscopic values of the lumbar spine obtained by thirteen healthy volunteers. The data demonstrate for the first time that hypercellularity and myeloid hyperplasia in subjects with glycogen storage disease type Ib due to functionally impaired leucocytes results in a strongly increased water proton signal with a very low or absent lipid signal in localized proton MR spectroscopy. Upon granulocyte colony stimulating factor treatment, the water proton signal in the lumbar spine is not further augmented. J. Magn. Reson. Imaging 2001;14:757–762. © 2001 Wiley‐Liss, Inc.

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