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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

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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 i 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, i sur.. Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology. Frontiers in Pediatrics [Internet]. 08.04.2022. [pristupljeno 08.11.2024.];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, Travanj 2022. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:095370. [Citirano: 08.11.2024.]

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Podaci o radu
Naslov (engleski)Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology
AutorDanijela Petković Ramadža
AutorIvana Kuhtić
AutorKamelija Žarković
AutorHanns Lochmüller
AutorMislav Čavka
AutorIda Kovač
AutorIvo Barić
AutorMaja Prutki
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PATOLOGIJU)
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PEDIJATRIJU)
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA RADIOLOGIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Pedijatrija
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Patologija
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Radiologija
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Prikaz slučaja
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaFrontiers in Pediatrics
Brojčani podacivol. 10, 847445
e-ISSN2296-2360
DOIhttps://doi.org/10.3389/fped.2022.847445
URN:NBNurn:nbn:hr:105:095370
Datum objave publikacije2022-04-08
URL dokumentahttps://www.frontiersin.org/articles/10.3389/fped.2022.847445/full
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2022-12-12 09:25:09