Ophthalmoplegia in Mitochondrial Disease
Yonsei Medical Journal
;
: 1190-1196, 2018.
Artículo
en Inglés
| WPRIM
| ID: wpr-718492
ABSTRACT
PURPOSE:
To evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease. MATERIALS ANDMETHODS:
Among 372 patients with mitochondrial disease who visited our hospital between January 2006 and January 2016, 21 patients with ophthalmoplegia were retrospectively identified. Inclusion criteria included onset before 20 years of age, pigmentary retinopathy, and cardiac involvement. The 16 patients who were finally included in the study were divided into three groups according to disease type Kearns-Sayre syndrome (KSS), KSS-like, and chronic progressive external ophthalmoplegia (CPEO).RESULTS:
The prevalences of clinical findings were as follows ptosis and retinopathy, both over 80%; myopathy, including extraocular muscles, 75%; lactic acidosis, 71%; and elevated levels of serum creatine kinase, 47%. Half of the patients had normal magnetic resonance imaging findings. A biochemical enzyme assay revealed mitochondrial respiratory chain complex I defect as the most common (50%). The prevalence of abnormal muscle findings in light or electron microscopic examinations was 50% each, while that of large-scale mitochondrial DNA (mtDNA) deletions in a gene study was 25%. We compared the KSS and KSS-like groups with the CPEO patient group, which showed pigmentary retinopathy (p < 0.001), cardiac conduction disease (p=0.013), and large-scale mtDNA deletions (p=0.038). KSS and KSS-like groups also had gastrointestinal tract disorders such as abnormal gastrointestinal motility (p=0.013) unlike the CPEO group.CONCLUSION:
Patients with KSS had gastrointestinal symptoms, which may indicate another aspect of systemic involvement. The presence of large-scale mtDNA deletions was an objective diagnostic factor for KSS and a gene study may be helpful for evaluating patients with KSS.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Acidosis Láctica
/
ADN Mitocondrial
/
Imagen por Resonancia Magnética
/
Oftalmoplejía
/
Retinitis Pigmentosa
/
Síndrome de Kearns-Sayre
/
Prevalencia
/
Estudios Retrospectivos
/
Genes vif
/
Clasificación
Tipo de estudio:
Estudio diagnóstico
/
Estudio observacional
/
Estudio de prevalencia
/
Estudio pronóstico
/
Factores de riesgo
Límite:
Humanos
Idioma:
Inglés
Revista:
Yonsei Medical Journal
Año:
2018
Tipo del documento:
Artículo
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