Kearns Sayre syndrome: an unusual form of mitochondrial diabetes.
Diabetes Metab
; 32(2): 182-6, 2006 Apr.
Article
em En
| MEDLINE
| ID: mdl-16735969
ABSTRACT
Kearns Sayre syndrome (KSS) is a mitochondrial disorder characterized by the emergence before age 20 of progressive external ophthalmoplegia, pigmentary retinopathy, together with other heterogeneous clinical manifestations, including cardiac conduction defects, muscle abnormalities and endocrinopathies. KSS is associated with large heteroplasmic deletions in mitochondrial DNA. We report the case of a 43-year-old woman, with diabetes mellitus as a first manifestation at age 19. Later, she exhibited bilateral ptosis and external ophthalmoplegia with progressive worsening. DNA analysis identified a large mitochondrial DNA (mtDNA) deletion, which confirmed the diagnosis of KSS. By reporting this case with diabetes mellitus as first manifestation, we aim at emphasizing problems of diagnosis in these subtypes of mitochondrial diabetes.
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Base de dados:
MEDLINE
Assunto principal:
Síndrome de Kearns-Sayre
/
Diabetes Mellitus
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article