Hypoparathyroidism as the first manifestation of Kearns-sayre syndrome. A case report

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.  ObjectiveKearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms include retinitis pigmentosa, chronic and progressive external ophthalmoplegia plus one or more of following factors: heart conduction system disorders, cerebellar ataxia, or cerebrospinal fluid (CSF) protein content above 100 mg/dL. The nature of this uncommon disease is yet to be clarified. In this paper, we report a case of Kearns-Sayre syndrome. According to the previous records, the first manifestation of Kearns-Sayre syndrome as hypoparathyroidism is uncommon and in this article, we report a case with this problem.ReferencesAshizawa T, Subramony SH. What is Kearns-Sayer syndrome after all? Arch Neurol 2001;58(7):1053-4.Barragan-Campos HM, Vallee JN, Lo D, Barrera-Ramirez CF, Argote-Greene M, Sanchez-Guerrero J, et al. Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies. Arch Neurol 2005;62(5):737-42.Amemiya S, Hamamoto M, Goto Y, Komaki H, Nishino I, Nonaka I, et al. Psychosis and progressive dementia: presenting features of a mitochondriopathy. Neurology 2000;55(4):600-1.Katsanos KH, Pappas CJ, Patsouras D, Michalis LK, Kitsios G, Elisaf M, et al. Alarming atrioventricular block and mitral valve prolapse in the Kearns-Sayer syndrome. Int J Cardiol 2002;83(2):179-81.Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, et al. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med 2009;15(2):200–5.Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, et al. Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004;364(9434):592–6.Bosbach S, Kornblum C, Schröder R, Wagner M. Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayer syndrome. Brain 2003;126(Pt 5):1231-40.Berenberg RA, Pellock JM, DiMauro S, Schotland DL, Bonilla E, Eastwood A, et al. Lumping or splitting? “Ophthalmoplegia-plus” or Kearns-Sayer syndrome? Ann Neurol 1977;1(1):37-54.Welzing L, von Kleist-Retzow JC, Kribs A, Eifinger F, Huenseler C, Sreeram N. Rapid development of life threatening complete atrioventricular block in Kearns-Sayer syndrome. Eur J Pediatr 2009;168(6):757-9.Berio A, Piazzi A. Kearns-Sayer syndrome with GH deficiency. Pediatr Med Chir 2000;22:43-6.Schmiedel J, Jackson S, Schäfer J, Reichmann H. Mitochondrial cytopathies. J Neurol 2003;250(3):267-77.Chu BC, Terae S, Takahashi C, Kikuchi Y, Miyasaka K, Abe S, et al. MRI of the brain in the Kearns-Sayer syndrome: report of four cases and a review. Neuroradiology 1999;41(10):759-64.Altunbaşak S, Bingöl G, Ozbarlas N, Akçören Z, Hergüner O. Kearns-Sayer syndrome. A case report. Turk J Pediatr 1998;40(2):255-9.Chawla S, Coku J, Forbes T, Kannan S. Kearns-Sayer syndrome presenting as complete heart block. Pediatr Cardiol 2008;29(3):659-62.Gregoratos G, Abrams J, Epstein AE, Freedman RA, Hayes DL, Hlatky MA, et al. ACC/AHA/NASPE 2002 guideline update for implantation of cardiac pacemakers and antiarrhythmia devices: summary article: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/ AHA/NASPE Committee to Update the 1998 Pacemaker Guidelines). Circulation 2002;106(16):2145-61.Basu AP, Posner E, McFarland R, Turnbull DM. Kearnsayre syndrome. Medscape reference. Feb 4, 2010.http://emedicine.medscape.com/article/950897

The correlation between cerebral glucose metabolism and benzodiazepine receptor density in the acute vegetative state

This paper compares the results of parallel positron emission tomography ( PET) studies of regional cerebral glucose metabolism with the radiotracer F-18-fluorodeoxyglucose (FDG) and benzodiazepine receptor (BZR) density by PET using the BZR ligand C-11-flumazenil (FMZ), a tracer of neuronal integrity, in nine patients with acute vegetative state (AVS, duration <1 month). Overall glucose utilization was significantly reduced in AVS in comparison with age-matched controls (global metabolic rate for glucose 26 μmol/100 g/min in AVS vs. 31 μmol/100g/min in controls). FMZ-PET demonstrated a considerable reduction of BZR binding sites in all cortical regions that grossly corresponded to the extent of reduction of cerebral glucose metabolism assessed with FDG-PET, whilst the cerebellum was spared from neuronal loss. In controls, cortical relative flumazenil binding was not lower than five times the average white matter activity, whilst in AVS, nearly all values were below this threshold. There was no relevant overlap of the data of relative umazenil binding between both groups. The comparison of FDG- and FMZ-PET findings in AVS demonstrates that alterations of cerebral glucose consumption do not represent mere functional inactivation, but irreversible structural brain damage

Population status, biology and ecology of the Maral, Cervus elaphus maral, in Golestan National Park, Iran

Abstract. The habitat and population characteristics of the Maral, Cervus elaphus maral Gray, 1850, were studied in Golestan National Park, Iran, from 1975 to 2003 (but more intensively from 1976 in the three vegetation types present; Caspian deciduous forest, transition zone, and steppe. Forest meadows and the transition zone were the preferred habitats. Hahn&apos;s census method and pellet group counts gave a population number of 1897 -2096 Marals during 1976 Since then the population size has declined, to 500 in 2003. The average Maral group size was 4.6. The sex ratio among adults was 27 stags per 100 hinds. The number of calves produced per 100 hinds was 28. The annual mortality rate was 13.9% and life expectancy was 6.7 years. The decline of the Maral population in Golestan National Park was correlated with a similar trend in the Maral population in the Caspian forest (Hyrcanian region). Illegal hunting, road kill and livestock grazing have been identified as the major factors which affect the Maral population adversely. Tiere. Die durchschnittliche Gruppengröße betrug 4.6; das Geschlechterverhältnis betrug bei Alttieren 27 männlichen Hirschen zu 100 Hirschkühen. Die Anzahl der Kälber pro 100 Hirschkühe betrug 28, die jährliche Mortalität 13,9% und die durchschnittliche Lebenserwartung 6,7 Jahre. Die Entwicklung der Population im Golestan-Nationalpark korreliert mit einem fast gleichen Trend, der bei der Rotwildpopulation in den Kaspischen Wäldern (Hercynische Region) zu beobachten ist. Illegale Jagd, Verkehrsopfer und Beweidung durch Haustiere wurden als die wichtigsten Faktoren erkannt, die die Rotwildpopulation negativ beeinflussen

Interaction of Epigallocatechin Gallate and Quercetin with Spike Glycoprotein (S-Glycoprotein) of SARS-CoV-2: In Silico Study

Severe acute respiratory syndrome (SARS)-CoV-2 from the family Coronaviridae is the cause of the outbreak of severe pneumonia, known as coronavirus disease 2019 (COVID-19), which was first recognized in 2019. Various potential antiviral drugs have been presented to hinder SARS-CoV-2 or treat COVID-19 disease. Side effects of these drugs are among the main complicated issues for patients. Natural compounds, specifically primary and secondary herbal metabolites, may be considered as alternative options to provide therapeutic activity and reduce cytotoxicity. Phenolic materials such as epigallocatechin gallate (EGCG, polyphenol) and quercetin have shown antibacterial, antifungal, antiviral, anticancer, and anti-inflammatory effects in vitro and in vivo. Therefore, in this study, molecular docking was applied to measure the docking property of epigallocatechin gallate and quercetin towards the transmembrane spike (S) glycoprotein of SARS-CoV-2. Results of the present study showed Vina scores of &minus;9.9 and &minus;8.3 obtained for EGCG and quercetin by CB-Dock. In the case of EGCG, four hydrogen bonds of OG1, OD2, O3, and O13 atoms interacted with the Threonine (THR778) and Aspartic acid (ASP867) amino acids of the spike glycoprotein (6VSB). According to these results, epigallocatechin gallate and quercetin can be considered potent therapeutic compounds for addressing viral diseases

Monosymptomatic resting tremor and Parkinson's disease: A multitracer positron emission tomographic study

We sought to elucidate the relationship between monosymptomatic resting tremor (mRT) and Parkinson's disease (PD). We studied eight mRT patient,, (mean Hoehn and Yahr [HY], 1.1 +/- 0.4), eight patients with PD (mean HY, 1.5 +/- 0.8), who showed all three classic parkinsonian symptoms, and seven age-matched healthy subjects. Subjects underwent cerebral magnetic resonance imaging (MRI) and multitracer positron emission tomography (PET) with 6-[F-18]fluoro-L-dopa (F-dopa), [F-18]fluorodeoxyglucose (FDG), and [C-11]raclopride (RACLO). PD and mRT patients did not show significant differences in F-dopa-, RACLO-, or FDG-PET scans. In F-dopa- and RACLO-PET, significant differences between the pooled patient data and control subjects were found for the following regions: anterior and posterior putamen ipsilateral and contralateral to the more affected body side, and ipsilateral and contralateral putaminal gradients of the K-i values. Furthermore. we found a difference for the normalized glucose values of the whole cerebellum between the control group (0.94 +/- 0.06) and PD patients (1.01 +/- 0.04 P < 0.05) but not for the mRT group (0.97 +/- 0.03). Our findings indicate that monosymptomatic resting tremor represents a phenotype of Parkinson's disease, with a nearly identical striatal dopaminergic deficit and postsynaptic D2-receptor upregulation in both patient groups. We suggest that the cerebellar metabolic hyperactivity in PD is closer related to akinesia and rigidity rather than to tremo

Deep brain stimulation of the subthalamic nucleus versus levodopa challenge in Parkinson's disease: measuring the on- and off-conditions with FDG-PET

In order to compare the effects of high-frequency stimulation of the subthalamic nucleus (STN-DBS) and a levodopa-challenge on cerebral metabolic activity, we conducted PET scans with [F- 18]2-fluoro-2-deoxyglucose (FDG) in the drug- and stimulation- on- and off-condition in a single patient suffering from advanced PD. Our data revealed evidence for improved thalamocortical processing released from inhibition by overactive basal ganglia output nuclei in both on-conditions. While levodopa also led to a reduction of lentiform hyperactivity, effective STN stimulation seemed to interfere with distinct cerebellar and limbic circuits

[F-18]fluorodopa uptake in the upper brainstem measured with positron emission tomography correlates with decreased REM sleep duration in early Parkinson's disease

Copyright 2003 ELSEVIER SCIENC

The antiparkinsonian effects of deep brain stimulation in the subthalamic nucleus are not mediated by an increase of tonic striatal dopamine receptor stimulation: evidence from serial [11C]raclopride-PET in parkinsonian humans

Copyright Elsevier Science 200

Crossed cerebellar diaschisis in acute human stroke: A PET study of serial changes and response to supratentorial reperfusion

© 2005 The International Society for Cerebral Blood Flow and Metabolis