scholarly journals Pathogenicity of low heteroplasmic m.3243A>G variants requires confirmation

2019 ◽  
pp. 01-03
Author(s):  
Josef Finsterer
Keyword(s):  
Retinal Detachment ◽  
Recent Article ◽  
Sinus Tachycardia ◽  
Mitochondrial Disorder ◽  
Facial Dysmorphism ◽  
Ablatio Retinae ◽  
Caucasian Male ◽  
Childhood Migraine ◽  
Intestinal Dysmotility ◽  
Intestinal Pseudo Obstruction

Keywords: Mitochondrial disorder; Multisystem; mtDNA; Phenotype; Genotype Correspondence In a recent article, Yee et al. reported about a 31 years old Caucasian male with non-specific mitochondrial multiorgan disorder syndrome (MIMODS) due to the mtDNA variant m.3243A>G [1]. Phenotypic manifestations attributed to the mtDNA variant included diabetes, gastro-intestinal dysmotility, gastro-intestinal pseudo-obstruction, facial dysmorphism, pectus excavatus, nystagmus, ophthalmoparesis, cataract, hypoacusis since childhood, migraine, retinopathy, right retinal detachment (ablatio retinae), and sinus tachycardia [1]. We have the following comments and concerns.

Bilateral exudative retinal detachment in undiagnosed ocular syphilis after treatment with corticosteroids

2019 ◽  
pp. 112067211988900
Author(s):  
Marina Aguilar-González ◽  
Alex Samir Fernández-Santodomingo ◽  
Emma Marín-Payá ◽  
Miriam Rahhal-Ortuño ◽  
Patricia Udaondo
Keyword(s):  
Retinal Detachment ◽  
Optic Neuritis ◽  
Complete Resolution ◽  
Exudative Retinal Detachment ◽  
Caucasian Male ◽  
Ocular Syphilis

A case of a young Caucasian male who presented bilateral papilledema is described. He was misdiagnosed with bilateral anterior optic neuritis, developing panuveitis and exudative bilateral retinal detachment after being treated with megadoses of corticosteroids. He was finally diagnosed with ocular syphilis and treated with intravenous aqueous crystalline penicillin for 14 days, with complete resolution of his symptoms.

Chronic intestinal psuedo-obstruction and MIDD, a rare cause of acute abdomen: implications in emergency surgery

2021 ◽  
Vol 14 (8) ◽  
pp. e242579
Author(s):  
Kirk Underwood ◽  
Henry Drysdale ◽  
Giang Nguyen ◽  
Sonalmeet Nagra
Keyword(s):  
Small Bowel ◽  
Emergency Management ◽  
Emergency Surgery ◽  
Mitochondrial Disorder ◽  
Diagnostic Challenge ◽  
Vitamin Deficiencies ◽  
Intestinal Pseudo Obstruction ◽  
Metabolic Unit ◽  
Inherited Diabetes

Chronic intestinal pseudo-obstruction (CIPO) is a condition typified by the failure of the small bowel to propel contents in the absence of physical obstruction. CIPO is diagnosed after eliminating other causes, presenting a diagnostic challenge in emergency surgery. We report a case of a 32-year-old man with a rare mitochondrial disorder, Maternally inherited diabetes and deafness (MIDD), who presented to our hospital acutely unwell with peritonitis. Laparotomy revealed distended small bowel with no transition point, and turbid fluid with no macroscopic source. Postoperatively he had severe electrolyte and vitamin deficiencies. The diagnosis of CIPO leading to paralytic ileus and bacterial translocation was established and managed with aggressive electrolyte and vitamin replacement. He was discharged day 12 post operatively after a prolonged ileus with follow-up from a quaternary metabolic unit. We discuss here the challenges and gold standard in the emergency management of CIPO.

scholarly journals Monoamines, pterines, or tetrahydrofolate are not useful as biomarkers for diagnosing mitochondrial disorders

2019 ◽  
pp. 13-14
Author(s):  
Josef Finsterer ◽  
Sinda Zarrouk-Mahjoub
Keyword(s):  
Cerebrospinal Fluid ◽  
Retrospective Study ◽  
Muscle Biopsy ◽  
Recent Article ◽  
Homovanillic Acid ◽  
Mitochondrial Disorder ◽  
Mitochondrial Disorders ◽  
Letter To The Editor

Keywords: Mitochondrial; mtDNA; Phenotype; Genotype; Myopathy; Muscle biopsy Letter to the Editor In a recent article Batllori et al. reported about a retrospective study of cerebrospinal fluid (CSF) concentrations of monoamines (homovanillic acid (HVA), 5-hydroxyindolacetic acid (5HIAA)), pterines (neopterin, biopterin), and 5-methyl-tetra-hydrofolate (5MTHF) in 29 patients with a genetically confirmed mitochondrial disorder (MID) [1]. The study showed that high HVA is associated with low folate levels in KSS but was otherwise in-conclusive [1]. We have the following comments and concerns.

Bevacizumab-unterstützte Vitrektomie bei traktiver PDR-Ablatio retinae

2008 ◽  
Vol 225 (S 02) ◽  
Author(s):  
S Walter ◽  
A Viestenz ◽  
W Behrens-Baumann
Keyword(s):  
Ablatio Retinae
Sign in / Sign up

Export Citation Format

Share Document