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Scientific paper - Case study
Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology
Frontiers in Pediatrics, 10 (2022); 847445. https://doi.org/10.3389/fped.2022.847445
Petković Ramadža, Danijela; Kuhtić, Ivana; Žarković, Kamelija; Lochmüller, Hanns; Čavka, Mislav; Kovač, Ida; Barić, Ivo; Prutki, Maja

Institutional repository: Dr Med - University of Zagreb School of Medicine Digital Repository

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Petković Ramadža, D., Kuhtić, I., Žarković, K., Lochmüller, H., Čavka, M., Kovač, I. ... Prutki, M. (2022). Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology. Frontiers in Pediatrics, 10.. doi: 10.3389/fped.2022.847445

Petković Ramadža, Danijela, et al. "Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology." Frontiers in Pediatrics, vol. 10, 2022. https://doi.org/10.3389/fped.2022.847445

Petković Ramadža, Danijela, Ivana Kuhtić, Kamelija Žarković, Hanns Lochmüller, Mislav Čavka, Ida Kovač, Ivo Barić and Maja Prutki. "Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology." Frontiers in Pediatrics 10 (2022). https://doi.org/10.3389/fped.2022.847445

Petković Ramadža, D., et al. (2022) 'Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology', Frontiers in Pediatrics, 10. doi: 10.3389/fped.2022.847445

Petković Ramadža D, Kuhtić I, Žarković K, Lochmüller H, Čavka M, Kovač I, and sur.. Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology. Frontiers in Pediatrics [Internet]. 2022 April 08 [cited 2024 April 26];10. doi: 10.3389/fped.2022.847445

D. Petković Ramadža, et al., "Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology", Frontiers in Pediatrics, vol. 10, April 2022. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:095370. [Accessed: 26 April 2024]

Metadata
Title (english)Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology
AuthorDanijela Petković Ramadža
AuthorIvana Kuhtić
AuthorKamelija Žarković
AuthorHanns Lochmüller
AuthorMislav Čavka
AuthorIda Kovač
AuthorIvo Barić
AuthorMaja Prutki
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Pathology)
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Pediatrics)
Author's institutionUniversity 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. ----- 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. ----- 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. ----- 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)
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleFrontiers in Pediatrics
Numberingvol. 10, 847445
e-ISSN2296-2360
DOIhttps://doi.org/10.3389/fped.2022.847445
URN:NBNurn:nbn:hr:105:095370
Publication2022-04-08
Document URLhttps://www.frontiersin.org/articles/10.3389/fped.2022.847445/full
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2022-12-12 09:25:09