Kearns-Sayre syndrome is genetically and phenotypically heterogeneous
نویسندگان
چکیده
منابع مشابه
Diagnose Kearns–Sayre syndrome genetically and investigate the phenotype comprehensively
We read the article by Leal et al. with interest about a 17-year-old male with Kearns–Sayre syndrome (KSS), diagnosed upon the clinical presentation, instrumental findings and the muscle biopsy findings [1]. Despite some peculiarities of the phenotype, the presentation at onset was mild and the further course uneventful. We have the following comments and concerns. The main disadvantage of this...
متن کاملKearns-Sayre syndrome
The Kearns-Sayre syndrome is a mitochondrial myopathy characterised by ptosis, chronic progressive external ophthalmoplegia, abnormal retinal pigmentation, and cardiac conduction defects. A unique case is reported in which there was rapid development ofprogressive congestive cardiac failure that required cardiac transplantation. A review of published reports of mitochondrial myopathy shows that...
متن کامل[Kearns-Sayre syndrome].
The authors describe a rare group of symptoms, resulting in progressive external ophthalmoplegia, retinal pigment epithelial dysfunction and cardiac conduction disturbance. The illness belongs to the group of mitochondrial cytopathies. The case extends over the diagnostic possibilities, with special attention on electromyographic diagnostic, clinical symptoms, pathomechanism of the disease, and...
متن کاملMR of Kearns-Sayre Syndrome
A 6-year-old boy was first evaluated because of short stature and hypocalcemia. His mother's pregnancy and delivery had been normal. Growth failure became progressively obvious; it was quantified at -3.5 standard deviations when the patient was 6 months old. Within 2 years, his developmental milestones declined, necessitating special education. When he was 5 years old, carpopedal spasm began; t...
متن کامل[Cardiac involvement in Kearns-Sayre syndrome].
The mitochondrial cytopathies or oxidative-phosphorylation diseases are a diverse group of disorders that result from the structural, biochemical, or genetic derangement of mitochondria. Because mitochondrial dysfunction can affect the most highly energy-dependent organs, cardiac involvement is frequent in these diseases. To identify the clinical features of Kearns-Sayre syndrome, an entity ass...
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ژورنال
عنوان ژورنال: La Pediatria Medica e Chirurgica
سال: 2018
ISSN: 2420-7748,0391-5387
DOI: 10.4081/pmc.2018.193