hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report   how to cite this article: ashrafzadeh f, ghaemi n, akhondian j, beiraghi toosi m, elmi s. hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report. iran j child neurol. 2013 autumn;7(4):53-57.     objective kearns-sayre syndrome is a mitochondrial myopathy, which was first descri...

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We report a pedigree in which six males died of cardiac failure within the first eight months of life. These males were related through healthy females, as with X linked recessive inheritance. There was no consanguinity. None of the affected boys had an anatomical cardiac abnormality. In two affected brothers, histological evidence for endomyocardial fibroelastosis was documented, and in one of...

Unlike stereotypical neurotropic viruses, influenza A viruses have been detected in the brain tissues of human and animal models. To investigate the interaction between neurons and influenza A viruses, mouse cortical neurons were isolated, infected with human H1N1 influenza virus, and then examined for the production of various inflammatory molecules involved in immune response. We found that r...

OBJECTIVE To define the indications for tracheotomy in patients requiring prolonged intubation (>1 week) in the pediatric intensive care unit (PICU). DESIGN Retrospective chart review and follow-up telephone survey. SETTING A tertiary care center PICU. OUTCOME MEASURE Tracheotomy or extubation. PATIENTS All patients older than 30 days in the PICU intubated for longer than 1 week between...

A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, meta...

A9-year-old boy presented with headache, vomiting, and leftward eye gaze deviation. On examination, left homonymous hemianopia, horizontal nystagmus, and anisocoric pupils were noted. Brain CT disclosed symmetric calcification in basal ganglia (figure A). Blood examination showed lactic academia. Further MRI revealed right occipito-temporo-parietal cortical hyperintensities (figure, B and C). M...

A simple test is described for identifying patients with abnormalities of muscle energy metabolism secondary to mitochondrial dysfunction, based on the venous lactate response to exercise at 90% of predicted work rate at the anaerobic threshold. The test was standardised for age, weight and sex of subjects, and was abnormal in all cases of mitochondrial cytopathy tested, with a false positive r...