Glycogen storage disease type Ib

Case contributed by Dr Stan Buckens


Several months of pain about the left hip and lower back, responding initially to antibiotics, in a patient with established glycogen storage disease

Patient Data

Age: 30 years
Gender: Female

MR pelvis

Coronal T2 DIXON reconstructions demonstrating diffuse signal changes in the bone marrow (T2 hyperintensity with loss of fat signal on DIXON fat reconstruction), consistent with glyogen storage disease and a history of G-CSF use. Axial PD and axial T2 DIXON water reconstructions demonstrate the same. 

Furthermore the MR demonstrates findings consistant with left sacro-iliac arthritis, with joint effusion, juxta-articular bone marrow edema en peri-articular swelling and edema. 

Prior non-contrast enhanced CT abdomen, acquired approximately one year prior to the MRI, demonstrating diffuse osteopenia with coarse, sparse trabeculae. Extra-osseous manifestations concurrent with glycogen storage disease demonstated on this CT include: hepatomegaly, kidney stone (this disease is also associated with nephrolithiasis).

Case Discussion

Young adult patient with glycogen storage disease type 1b (homozygous for mutation 12211 delCT in EXON-8), with decades long use of G-CSF for neutrophil dysfunction and neutropenia. 

Current presention is with pain in the left sacro-iliac joint region, with MRI findings consistant with left sacroiliac arthritis.

The MRI further shows diffuse bone marrow signal abnormalities consistant with hypercellularity, with decreased fat component and high T2 signal. Literature suggests that bone marrow hypercellularity is associated with the underlying myeloid dysplasia but markedly increased by the use of G-CSF. 

Patients with this disease may be prone to infections, such as sacroiliac joint arthritis, due to neutrophil dysfunction. The sacroiliac symptoms resolved after antibiotic use and no further diagnostic testing was undertaken. 

A prior non contrast enhanced CT of the abdomen demonstrates the osteopenia and the sparse, course trabecularisation of the lumbar spine and pelvis, along with several extraskeletal manifestations of the underlying metabolic disease. 

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Case information

rID: 64868
Published: 12th Dec 2018
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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