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...

A 15-year-old boy was diagnosed with Kayne Sayre Syndrome. He presented with pigmentary retinopathy, progressive ophthalmoplegia and complete heart block. He received a transvenous dual chamber pacemaker. Two years later he died suddenly while at home. This case highlights the importance of recognizing mechanisms other than heart block as a cause of sudden death in a patient with KSS.

We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragg...

A 22 year old male presented to our clinic with history of fatigue and breathlessness for four years. His clinical history had started during early childhood and was characterized by mental retardation. Mental retardation had prevented him from attending the school. Patient developed bilateral ptosis when he was thirteen years old. He was also giving history of double vision for the past 6 year...

To establish a noninvasive genetic diagnosing method for Kearns-Sayre syndrome, the authors used the polymerase chain reaction (PCR) technique for detecting mitochondrial DNA (mtDNA) deletions in the platelets and directly sequenced the crossover regions of the deleted mtDNA using the fluorescence-based automated sequencing system. The mtDNA deletions were identified in the platelets of three o...

The Karolinska Sleepiness Scale (KSS) is frequently used to study sleepiness in various contexts. However, it exists in two versions, one with labels on every other step (version A), and one with labels on every step (version B) on the 9-point scale. To date, there are no studies examining whether these versions can be used interchangeably. The two versions were here compared in a 24 hr wakeful...

The 2011 KSS is a valid clinical TKA questionnaire, but with a low completion rate (42%). Adjustments, focusing on optimizing scale features, are required to improve its clinical use. The low completion rates, non-optimal scale features, lacking rules or a combination of these factors where addressed, leading to the development of the adjusted 2011 KSS (2011 KSS-A). Four-hundred-ninety-nine pri...

WITH CEREBRAL FOLATE DEFICIENCY Cerebral folate deficiency (CFD) has been defined as any neuropsychiatric condition associated with isolated lowering of 5-methyltetrahydrofolate (5MTHF) levels in CSF and normal systemic folate metabolism.1 CFD has been detected in the infantile-onset CFD syndrome (mediated by serum folate receptor [FR] autoantibodies of the blocking type1) and Aicardi-Goutières...