Routine magnetic resonance imaging of the spine in children with Gaucher disease: does it help therapeutic management?

Abstract

Routine magnetic resonance imaging (MRI) surveillance of bone marrow change in patients with Gaucher disease (GD) is recommended, but interpretation of imaging findings in the developing skeleton may be difficult. To assess the agreement between routine spinal MRI findings and clinical course in paediatric GD patients receiving enzyme replacement therapy (ERT). A retrospective institutional review of all GD patients on ERT who had had repeated routine spinal MRI in accordance with national recommendations ( n=14) was carried out. Vertebral body bone marrow MRI T1 signal was assessed relative to intervertebral discs. MRI findings were then compared with recorded date(s) of ERT initiation and possible therapy changes. Nine patients had spinal MRI both before and after the start of ERT. MRI T1 marrow signal was normal in two and abnormal in three of the nine patients both before and after the start of ERT. Two of the nine patients had normalization and one had conversion from normal to abnormal T1 signal. Interpretation was uncertain in one. Seven episodes of treatment intensification occurred. MRI T1 marrow signal was normal before five and uncertain before two of the seven episodes. Routine spinal MRI had low accuracy for predicting clinically indicated therapy intensification.