2‐[18F] FDG PET/CT in Rapid Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency: A Case Report
ABSTRACT Multiple acyl‐CoA dehydrogenase deficiency (MADD) is a rare inborn metabolic myopathy affecting fat and protein metabolism. Patients with late‐onset MADD typically present with exercise intolerance and muscle weakness. We present a patient with an acute, very late‐onset symptom debut at 52 ...
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Wiley
2025-03-01
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| Series: | JIMD Reports |
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| Online Access: | https://doi.org/10.1002/jmd2.12469 |
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| author | Astrid Høj Sonja Holm‐Yildiz Thomas Krag Danijela Dejanovic Thomas vanOvereem Hansen Morten Dunø Mette Cathrine Ørngreen John Vissing Nicoline Løkken |
| author_facet | Astrid Høj Sonja Holm‐Yildiz Thomas Krag Danijela Dejanovic Thomas vanOvereem Hansen Morten Dunø Mette Cathrine Ørngreen John Vissing Nicoline Løkken |
| author_sort | Astrid Høj |
| collection | DOAJ |
| description | ABSTRACT Multiple acyl‐CoA dehydrogenase deficiency (MADD) is a rare inborn metabolic myopathy affecting fat and protein metabolism. Patients with late‐onset MADD typically present with exercise intolerance and muscle weakness. We present a patient with an acute, very late‐onset symptom debut at 52 years of age. Over 5 months, the patient deteriorated from asymptomatic to almost complete loss of ambulation. He had a substantial weight loss, head‐drop, progressive proximal limb and chewing weakness. Due to the rapid progression, amyotrophic lateral sclerosis, myositis, myasthenia gravis and a paraneoplastic syndrome in relation to underlying malignancy were considered first. A 2‐[18F] FDG PET/CT scan was performed to exclude a paraneoplastic syndrome. The scan revealed diffuse and symmetric, pathologically high 2‐[18F] FDG‐uptake in the patient's neck, shoulder, and paravertebral muscles, which was later suggested as a sign of a metabolic myopathy. Muscle biopsy (Oil Red O staining) and acylcarnitine profile (elevated C5‐C18 acylcarnitines) findings suggested MADD, which was confirmed by genetic analysis showing biallelic variants in the ETFDH gene (c.1763A>G, p.(His588Arg); c.897G>A, p.(Leu299=)). After 1 month of dietary intervention and daily diet supplements (riboflavin 400 mg TID, levocarnitine 1 g TID, Q10 150 mg qD in two doses), the patient had almost recovered to his habitual level. A posttreatment muscle biopsy showed less disrupted ultrastructure of the myofibers. We learned from this case of rapid and late‐onset MADD that 2‐[18F] FDG PET/CT, with diffuse and symmetric 2‐[18F] FDG‐uptake in skeletal muscle, can be valuable in clarifying this rare diagnosis. |
| format | Article |
| id | doaj-art-026d98bb5b5f46968ddcd28ac828aa9f |
| institution | Kabale University |
| issn | 2192-8312 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Wiley |
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| series | JIMD Reports |
| spelling | doaj-art-026d98bb5b5f46968ddcd28ac828aa9f2025-08-20T03:43:43ZengWileyJIMD Reports2192-83122025-03-01662n/an/a10.1002/jmd2.124692‐[18F] FDG PET/CT in Rapid Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency: A Case ReportAstrid Høj0Sonja Holm‐Yildiz1Thomas Krag2Danijela Dejanovic3Thomas vanOvereem Hansen4Morten Dunø5Mette Cathrine Ørngreen6John Vissing7Nicoline Løkken8Department of Neurology, Copenhagen Neuromuscular Centre Copenhagen University Hospital, Rigshospitalet Copenhagen DenmarkDepartment of Neurology, Copenhagen Neuromuscular Centre Copenhagen University Hospital, Rigshospitalet Copenhagen DenmarkDepartment of Neurology, Copenhagen Neuromuscular Centre Copenhagen University Hospital, Rigshospitalet Copenhagen DenmarkDepartment of Clinical Physiology, Nuclear Medicine, and PET, Rigshospitalet University of Copenhagen Copenhagen DenmarkDepartment of Clinical Genetics, Molecular Genetic Laboratory, Rigshospitalet University of Copenhagen Copenhagen DenmarkDepartment of Clinical Genetics, Molecular Genetic Laboratory, Rigshospitalet University of Copenhagen Copenhagen DenmarkDepartment of Paediatrics and Adolescent Medicine Copenhagen University Hospital, Rigshospitalet Copenhagen DenmarkDepartment of Neurology, Copenhagen Neuromuscular Centre Copenhagen University Hospital, Rigshospitalet Copenhagen DenmarkDepartment of Neurology, Copenhagen Neuromuscular Centre Copenhagen University Hospital, Rigshospitalet Copenhagen DenmarkABSTRACT Multiple acyl‐CoA dehydrogenase deficiency (MADD) is a rare inborn metabolic myopathy affecting fat and protein metabolism. Patients with late‐onset MADD typically present with exercise intolerance and muscle weakness. We present a patient with an acute, very late‐onset symptom debut at 52 years of age. Over 5 months, the patient deteriorated from asymptomatic to almost complete loss of ambulation. He had a substantial weight loss, head‐drop, progressive proximal limb and chewing weakness. Due to the rapid progression, amyotrophic lateral sclerosis, myositis, myasthenia gravis and a paraneoplastic syndrome in relation to underlying malignancy were considered first. A 2‐[18F] FDG PET/CT scan was performed to exclude a paraneoplastic syndrome. The scan revealed diffuse and symmetric, pathologically high 2‐[18F] FDG‐uptake in the patient's neck, shoulder, and paravertebral muscles, which was later suggested as a sign of a metabolic myopathy. Muscle biopsy (Oil Red O staining) and acylcarnitine profile (elevated C5‐C18 acylcarnitines) findings suggested MADD, which was confirmed by genetic analysis showing biallelic variants in the ETFDH gene (c.1763A>G, p.(His588Arg); c.897G>A, p.(Leu299=)). After 1 month of dietary intervention and daily diet supplements (riboflavin 400 mg TID, levocarnitine 1 g TID, Q10 150 mg qD in two doses), the patient had almost recovered to his habitual level. A posttreatment muscle biopsy showed less disrupted ultrastructure of the myofibers. We learned from this case of rapid and late‐onset MADD that 2‐[18F] FDG PET/CT, with diffuse and symmetric 2‐[18F] FDG‐uptake in skeletal muscle, can be valuable in clarifying this rare diagnosis.https://doi.org/10.1002/jmd2.12469FDG PET/CTlipid myopathyMADDmetabolic myopathymultiple acyl coenzyme‐A dehydrogenase deficiencymuscle biopsy |
| spellingShingle | Astrid Høj Sonja Holm‐Yildiz Thomas Krag Danijela Dejanovic Thomas vanOvereem Hansen Morten Dunø Mette Cathrine Ørngreen John Vissing Nicoline Løkken 2‐[18F] FDG PET/CT in Rapid Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency: A Case Report JIMD Reports FDG PET/CT lipid myopathy MADD metabolic myopathy multiple acyl coenzyme‐A dehydrogenase deficiency muscle biopsy |
| title | 2‐[18F] FDG PET/CT in Rapid Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency: A Case Report |
| title_full | 2‐[18F] FDG PET/CT in Rapid Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency: A Case Report |
| title_fullStr | 2‐[18F] FDG PET/CT in Rapid Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency: A Case Report |
| title_full_unstemmed | 2‐[18F] FDG PET/CT in Rapid Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency: A Case Report |
| title_short | 2‐[18F] FDG PET/CT in Rapid Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency: A Case Report |
| title_sort | 2 18f fdg pet ct in rapid late onset multiple acyl coa dehydrogenase deficiency a case report |
| topic | FDG PET/CT lipid myopathy MADD metabolic myopathy multiple acyl coenzyme‐A dehydrogenase deficiency muscle biopsy |
| url | https://doi.org/10.1002/jmd2.12469 |
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