G.P.40: Skeletal muscle MRI in an X-linked myotubular myopathy patient who became ambulatory

We present the magnetic resonance imaging (MRI) findings of both upper and lower limbs in an XLMTM patient, who survived with Non-invasive Positive Pressure Ventilation (NPPV) support and ultimately became ambulatory. The patient was a 12-year old boy. His older brother, who also had XLMTM, had died during infancy. The patient presented with reduction of fetal movements, and had needed artificial respirator support at birth. He was genetically diagnosed as having XLMTM. Although he suffered repeated exacerbations of respiratory failure due to infection, the frequency of mechanical ventilation decreased after the initiation of NPPV at the age of 21months. He obtained an independent gait at the age of 7years, and he also gained the ability to walk up the stairs while holding onto a railing. T1-weighted muscle MRI tended to show high intensity areas in the flexor group of both brachial muscles and muscles in the forearms. Whole muscles in the thighs were mildly affected, but the soleus muscles were preserved. We have presented a rare XLMTM case achieving satisfactory progress. Muscle imaging showed differences from past reports in terms of the affected muscles. The degree of muscle atrophy was milder, most notably, than previously thought. This is consistent with our patient’s good clinical course. We speculate that skeletal muscle MRI shows specific muscle involvements also in the upper limbs. We advocate accumulating muscle imaging data not only for the lower but also for th...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research