Advanced skeletal muscle imaging in S-Adenosylhomocysteine Hydrolase Deficiency: A case series

BackgroundS-Adenosylhomocysteine ​​hydrolase (SAHH) deficiency is a rare inherited multisystemic disease with muscle involvement associated with increased activity of creatine kinase being one of the most prominent and poorly understood feature. Therefore, skeletal muscles were analyzed by magnetic resonance imaging (MRI) and MR spectroscopy (MRS) in three brothers with SAHH deficiency in a different age group.Case presentationAt the time of this study, the brothers were at age of 13, 11, and 8 years, respectively. They presented with similar symptoms in early infancy. Motor developmental delay began in the first months of life. Myopathy was more pronounced in the lower extremities and proximal skeletal muscle groups. MRI revealed lipid infiltration, and MRS curve showed an elevated muscle lipid fraction (higher peak of lipid) increased with age and in proximal skeletal muscle in lower extremities. The data was consistent with muscle biopsy findings in two of them, and third patient had no specific pathological changes in examined muscle tissue.ConclusionsThese findings open the possibility of insight into the extent of muscle involvement, monitoring the course of SAHH deficiency and response to therapy with an accessible and non-invasive method of MRI and MRS.

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