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MR Imaging of Bone Marrow in Glycogen Storage Disease Type IB in Children and Young Adults

Axel Scherer1, Volkher Engelbrecht1, Gudrun Neises2, Philip May1, Alexander Balsam2, Ute Spiekerkötter3, Udo Wendel3 and Ulrich Mödder1

1 Institute of Diagnostic Radiology, Heinrich-Heine University, Moorenstr. 5, D-40225 Düsseldorf, Germany.
2 Department of Metabolic Diseases and Nutrition, Heinrich-Heine University, D-40225 Düsseldorf, Germany.
3 Department of Pediatrics, Heinrich-Heine University, D-40225 Düsseldorf, Germany.



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  		Fig. 1A. —20-year-old-man with glycogen storage disease type IB treated with granulocyte colony—stimulating factor. Unenhanced coronal T1-weighted spin-echo image of thigh and knee joint (TR/TE, 450/14; slice thickness, 4.0 mm) reveals homogeneous hypointense signal (compared with subcutaneous fat) of diaphyseal and metaphyseal bone marrow and spotty inhomogeneous signal of epiphyseal bone marrow.

 


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  		Fig. 1B. —20-year-old-man with glycogen storage disease type IB treated with granulocyte colony—stimulating factor. Unenhanced coronal fat-suppressed short-tau inversion-recovery sequence (3975/30; slice thickness, 4.0 mm) at same level as A shows homogeneous hyperintense bone marrow signal of epiphyseal, metaphyseal, and diaphyseal region.

 


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  		Fig. 2A. —14-year-old boy with glycogen storage disease type IB without treatment with granulocyte colony—stimulating factor. Unenhanced coronal T1-weighted spin-echo sequence (TR/TE, 450/14; slice thickness, 4.0 mm) of thigh and knee joint reveals spotty inhomogeneous hypointense signal in epiphysis and metaphysis of bone marrow cavity.

 


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  		Fig. 2B. —14-year-old boy with glycogen storage disease type IB without treatment with granulocyte colony—stimulating factor. Unenhanced coronal fat-suppressed short-tau inversion-recovery sequence (3975/30; slice thickness, 4.0) at same level as A reveals spotty inhomogeneous hyperintense signal in epiphysis and metaphysis of bone marrow cavity with metaphyseal coalescing bands of signal changes.

 


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  		Fig. 1C. —20-year-old-man with glycogen storage disease type IB treated with granulocyte colony—stimulating factor. Photomicrograph of histopathologic specimen of bone marrow aspiration of iliac bone shows marked hypercellularity of marrow cavity with clusters and reduction of total fatty marrow and normal width of trabecular bone. (H and E, x 16)

 


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  		Fig. 3. —14-year-old girl with glycogen storage disease type IB treated with granulocyte colony—stimulating factor. Unenhanced coronal fat-suppressed short-tau inversion-recovery sequence of thigh and knee joint (TR/TE, 1500/15; slice thickness, 4.0 mm) shows undertubulation of distal thigh metaphysis (Erlenmeyer flask deformity) and homogeneous hyperintense marrow signal.

 


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  		Fig. 4A. —23-year-old woman with glycogen storage disease type IB and pain in ankle joint. Unenhanced coronal T1-weighted spin-echo sequence (TR/TE, 500/14; slice thickness, 4.0 mm) shows hypointense and diffusely delineated avascular necrosis (diameter, 1.6 cm) in talus and accompanying effusion in ankle joint. Tibial marrow shows hypointense signal.

 


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  		Fig. 4B. —23-year-old woman with glycogen storage disease type IB and pain in ankle joint. Unenhanced coronal fat-suppressed short-tau inversion-recovery sequence (3975/30; slice thickness, 4.0) at same level as A reveals strongly hyperintense signal of lesion and increased signal of tibial marrow.

 

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