Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology

Scientific paper - Case study

• Author: Danijela Petković Ramadža
• Author: Ivana Kuhtić
• Author: Kamelija Žarković
• Author: Hanns Lochmüller
• Author: Mislav Čavka
• Author: Ida Kovač
• Author: Ivo Barić
• Author: Maja Prutki
• Author's institution: University of Zagreb; School of Medicine; (Department of Pathology)
• Author's institution: University of Zagreb; School of Medicine; (Department of Pediatrics)
• Author's institution: University of Zagreb; School of Medicine; (Department of Radiology)
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pathology
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Radiology

Abstract (english)

Introduction: S-Adenosylhomocysteine hydrolase deficiency (SAHHD) is a rare inherited multisystemic disease with muscle involvement as one of the most prominent and poorly understood features. To get better insight into muscle involvement, skeletal muscles were analyzed by magnetic resonance imaging (MRI) and MR spectroscopy (MRS) in three brothers with SAHHD in the different age group.
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Method: The study was based on analysis of MRI and MRS of skeletal muscles of the lower and the proximal muscle groups of the upper extremities in three SAHHD patients.
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Results: Three siblings presented in early infancy with similar signs and symptoms, including motor developmental delay. All manifested myopathy, more pronounced in the lower extremities and the proximal skeletal muscle groups, and permanently elevated creatine kinase. At the time of MRI and MRS study, the brothers were at the age of 13, 11, and 8 years, respectively. MRI revealed lipid infiltration, and the MRS curve showed an elevated muscle lipid fraction (higher peak of lipid), which increased with age, and was more prominent in the proximal skeletal muscles of the lower extremities. These results were consistent with muscle biopsy findings in two of them, while the third patient had no specific pathological changes in the examined muscle tissue.
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Conclusions: These findings demonstrate that an accessible and non-invasive method of MRI and MRS is useful for an insight into the extent of muscle involvement, monitoring disease progression, and response to treatment in SAHHD.

• Keywords (english): S-Adenosylhomocysteine hydrolase; S-Adenosylhomocysteine hydrolase deficiency; magnetic resonance imaging with spectroscopy; myopathy; skeletal muscle
• Language: english
• Publication type: Scientific paper - Case study
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Frontiers in Pediatrics
• Numbering: vol. 10, 847445
• e-ISSN: 2296-2360
• DOI: https://doi.org/10.3389/fped.2022.847445
• URN:NBN: urn:nbn:hr:105:095370
• Publication: 2022-04-08
• Document URL: https://www.frontiersin.org/articles/10.3389/fped.2022.847445/full
• Type of resource: Text
• Access conditions: Open access
• Created on: 2022-12-12 09:25:09