Multisystem Disease, Including Eosinophilia and Progressive Hyper-Creatine-Kinase-emia over 10 Years, Suggests Mitochondrial Disorder
Background: Eosinophilia has not been reported as a manifestation of a mitochondrial disorder (MID). Here, we report a patient with clinical features suggesting a MID and permanent eosinophilia, multisystem disease, and progressive hyper-creatine-kinase (CK)-emia for at least 10 years. Materials and...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2017-04-01
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| Series: | Case Reports in Neurology |
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| Online Access: | http://www.karger.com/Article/FullText/466686 |
| _version_ | 1818534441550610432 |
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| author | Josef Finsterer Johannes Huber |
| author_facet | Josef Finsterer Johannes Huber |
| author_sort | Josef Finsterer |
| collection | DOAJ |
| description | Background: Eosinophilia has not been reported as a manifestation of a mitochondrial disorder (MID). Here, we report a patient with clinical features suggesting a MID and permanent eosinophilia, multisystem disease, and progressive hyper-creatine-kinase (CK)-emia for at least 10 years. Materials and Methods: Methods applied included a clinical exam, blood chemical investigations, electrophysiological investigations, imaging, and invasive cardiological investigations. The patient was repeatedly followed up over several years. He required replacement cardiac surgery. Results: In a 57-year-old male, eosinophilia was first detected at the age of 44 years and has remained almost constantly present until today. In addition to eosinophilia, he developed progressive hyper-CK-emia at the age of 47 years. His history was further positive for hepatopathy, hyperlipidemia, hypothyroidism, renal insufficiency, spontaneous Achilles tendon rupture, double vision, exercise intolerance, muscle aching, mild hypoacusis, sensory neuropathy, seizures, and mitral insufficiency/stenosis requiring valve replacement therapy, oral anticoagulation, and pacemaker implantation. Based on the multisystem nature of his abnormalities and permanent hyper-CK-emia, a MID was suspected. Conclusion: Eosinophilia can be associated with a MID with myopathy, possibly as a reaction to myofiber necrosis. If eosinophilia is associated with progressive hyper-CK-emia and multisystem disease, a MID should be suspected. |
| first_indexed | 2024-12-11T18:11:41Z |
| format | Article |
| id | doaj.art-646565cab18542428f7ddb70641ffaf5 |
| institution | Directory Open Access Journal |
| issn | 1662-680X |
| language | English |
| last_indexed | 2024-12-11T18:11:41Z |
| publishDate | 2017-04-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Neurology |
| spelling | doaj.art-646565cab18542428f7ddb70641ffaf52022-12-22T00:55:33ZengKarger PublishersCase Reports in Neurology1662-680X2017-04-0191697510.1159/000466686466686Multisystem Disease, Including Eosinophilia and Progressive Hyper-Creatine-Kinase-emia over 10 Years, Suggests Mitochondrial DisorderJosef FinstererJohannes HuberBackground: Eosinophilia has not been reported as a manifestation of a mitochondrial disorder (MID). Here, we report a patient with clinical features suggesting a MID and permanent eosinophilia, multisystem disease, and progressive hyper-creatine-kinase (CK)-emia for at least 10 years. Materials and Methods: Methods applied included a clinical exam, blood chemical investigations, electrophysiological investigations, imaging, and invasive cardiological investigations. The patient was repeatedly followed up over several years. He required replacement cardiac surgery. Results: In a 57-year-old male, eosinophilia was first detected at the age of 44 years and has remained almost constantly present until today. In addition to eosinophilia, he developed progressive hyper-CK-emia at the age of 47 years. His history was further positive for hepatopathy, hyperlipidemia, hypothyroidism, renal insufficiency, spontaneous Achilles tendon rupture, double vision, exercise intolerance, muscle aching, mild hypoacusis, sensory neuropathy, seizures, and mitral insufficiency/stenosis requiring valve replacement therapy, oral anticoagulation, and pacemaker implantation. Based on the multisystem nature of his abnormalities and permanent hyper-CK-emia, a MID was suspected. Conclusion: Eosinophilia can be associated with a MID with myopathy, possibly as a reaction to myofiber necrosis. If eosinophilia is associated with progressive hyper-CK-emia and multisystem disease, a MID should be suspected.http://www.karger.com/Article/FullText/466686Mitochondrial disorderMultiorgan disorderMetabolic myopathyEpilepsyBone marrowEosinophils |
| spellingShingle | Josef Finsterer Johannes Huber Multisystem Disease, Including Eosinophilia and Progressive Hyper-Creatine-Kinase-emia over 10 Years, Suggests Mitochondrial Disorder Case Reports in Neurology Mitochondrial disorder Multiorgan disorder Metabolic myopathy Epilepsy Bone marrow Eosinophils |
| title | Multisystem Disease, Including Eosinophilia and Progressive Hyper-Creatine-Kinase-emia over 10 Years, Suggests Mitochondrial Disorder |
| title_full | Multisystem Disease, Including Eosinophilia and Progressive Hyper-Creatine-Kinase-emia over 10 Years, Suggests Mitochondrial Disorder |
| title_fullStr | Multisystem Disease, Including Eosinophilia and Progressive Hyper-Creatine-Kinase-emia over 10 Years, Suggests Mitochondrial Disorder |
| title_full_unstemmed | Multisystem Disease, Including Eosinophilia and Progressive Hyper-Creatine-Kinase-emia over 10 Years, Suggests Mitochondrial Disorder |
| title_short | Multisystem Disease, Including Eosinophilia and Progressive Hyper-Creatine-Kinase-emia over 10 Years, Suggests Mitochondrial Disorder |
| title_sort | multisystem disease including eosinophilia and progressive hyper creatine kinase emia over 10 years suggests mitochondrial disorder |
| topic | Mitochondrial disorder Multiorgan disorder Metabolic myopathy Epilepsy Bone marrow Eosinophils |
| url | http://www.karger.com/Article/FullText/466686 |
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