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Novel imaging findi...
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population-based study
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- Savvidou, Antri (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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- Ivarsson, Liz (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för radiologi,Institute of Clinical Sciences, Department of Radiology
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- Naess, Karin (author)
- Department of Medical Biochemistry and Biophysics, Karolinska Institute, Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden
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- Eklund, Erik A. (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Section for Pediatrics, Department of Clinical Sciences, Lund University, Lund, Sweden
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- Lundgren, Johan (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Section for Pediatrics, Department of Clinical Sciences, Lund University, Lund, Sweden
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- Darin, Niklas, 1964 (author)
- Gothenburg University,Göteborgs universitet,Karolinska Institutet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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- Frithiof, Deborah (author)
- Umeå universitet,Umeå University,Pediatrik
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- Sofou, Kalliopi (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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- Darin, Niklas (author)
- Sahlgrenska Academy,Sahlgrenska University Hospital
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(creator_code:org_t)
- 2021-12-17
- 2022
- English.
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In: Journal of Inherited Metabolic Disease. - : Wiley. - 0141-8955 .- 1573-2665. ; 45:2, s. 248-263
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Abstract
Subject headings
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- The vast clinical and radiological spectrum of pyruvate dehydrogenase complex (PDHc) deficiency continues to pose challenges both in diagnostics and disease monitoring. Prompt diagnosis is important to enable early initiation of ketogenic diet. The patients were recruited from an ongoing population-based study in Sweden. All patients with a genetically confirmed diagnosis who had been investigated with an MRI of the brain were included. Repeated investigations were assessed to study the evolution of the MRI changes. Sixty-two MRI investigations had been performed in 34 patients (23 females). The genetic cause was mutations in PDHA1 in 29, PDHX and DLAT in 2 each, and PDHB in 1. The lesions were prenatal developmental in 16, prenatal clastic in 18, and postnatal clastic in 15 individuals. Leigh-like lesions with predominant involvement of globus pallidus were present in 12, while leukoencephalopathy was present in 6 and stroke-like lesions in 3 individuals. A combination of prenatal developmental and clastic lesions was present in 15 individuals. In addition, one male with PDHA1 also had postnatal clastic lesions. The most common lesions found in our study were agenesis or hypoplasia of corpus callosum, ventriculomegaly, or Leigh-like lesions. Furthermore, we describe a broad spectrum of other MRI changes that include leukoencephalopathy and stroke-like lesions. We argue that a novel important clue, suggesting the possibility of PDHc deficiency on MRI scans, is the simultaneous presence of multiple lesions on MRI that have occurred during different phases of brain development.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Keyword
- Leigh-like lesions.
- leukoencephalopathy
- magnetic resonance imaging
- pyruvate dehydrogenase complex deficiency
- stroke-like lesions
- Leigh-like lesions.
- Leigh-like lesions
Publication and Content Type
- art (subject category)
- ref (subject category)
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To the university's database
- By the author/editor
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Savvidou, Antri
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Ivarsson, Liz
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Naess, Karin
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Eklund, Erik A.
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Lundgren, Johan
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Darin, Niklas, 1 ...
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show more...
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Frithiof, Debora ...
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Sofou, Kalliopi
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Darin, Niklas
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
- Articles in the publication
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Journal of Inher ...
- By the university
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Lund University
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Umeå University
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Karolinska Institutet
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University of Gothenburg