Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome
| Autor: | Lei Yu, Jing Liu, Yuehuan Zuo, Wei Zhang, Jiangxi Xiao, Qingqing Wang, Zhe Zhang, Meng Yu, Zhaoxia Wang, Yun Yuan |
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| Rok vydání: | 2016 |
| Předmět: |
Male
Pathology medicine.medical_specialty Adolescent Genotype Heart block lcsh:Medicine Kearns-Sayre Syndrome Brain Magnetic Resonance Imaging Heart Conduction Block 030204 cardiovascular system & hematology DNA Mitochondrial Kearns–Sayre syndrome White matter 03 medical and health sciences 0302 clinical medicine medicine Humans Child Muscle biopsy medicine.diagnostic_test Bundle branch block business.industry lcsh:R Brain Magnetic resonance imaging General Medicine medicine.disease Magnetic Resonance Imaging Heart Block medicine.anatomical_structure Child Preschool Original Article Female Electrical conduction system of the heart Age of onset business 030217 neurology & neurosurgery |
| Zdroj: | Chinese Medical Journal, Vol 129, Iss 12, Pp 1419-1424 (2016) Chinese Medical Journal |
| ISSN: | 0366-6999 |
| DOI: | 10.4103/0366-6999.183417 |
| Popis: | Background: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion disorder characterized by a triad of onset before 20 years of age, ophthalmoplegia, and pigmentary retinopathy. The heart and central nervous system are commonly involved. We summarized clinical and brain magnetic resonance imaging (MRI) features of a cohort of Chinese KSS patients. Methods: Nineteen patients confirmed by muscle biopsy and mtDNA analysis were enrolled. We examined clinical profiles, mainly focusing on changes in electrocardiogram (ECG) and brain MRI . The correlation between genotype and phenotype was statistically analyzed. Results: The mean age of onset was 9.6 ± 4.3 years, with all developing the classic triad at the time of diagnosis. Heart conduction block was detected in 63.2%, with four initially presenting as bundle branch block and developing into complete atrioventricular block over 3–72 months. Brain MRI showed symmetric high-T2 signals in 100% of cerebral and cerebellar white matter, as well as brainstem, 46.7% of basal ganglia, and 53.3% of thalamus. There were two patterns of cerebral white matter involvements, one with selective subcortical U-fibers and the other with periventricular white matter. The size of mtDNA deletion did not significantly correlate with age of onset or percentage of ragged blue fibers on muscle pathology. Conclusions: The clinical features of KSS evolve dynamically, affecting the cardiac conduction system predominantly, highlighting the significance of ECG monitoring. Brain MRI showed changes involving both the white matter and deep gray nuclei. Clinical presentation or severity of muscle pathological changes is not related to the size of mtDNA deletions. |
| Databáze: | OpenAIRE |
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