Facial dysmorphism, hirsutism, and failure to thrive as manifestation of Leigh syndrome in a child with SURF1 mutation

We report a case of 22-month-old female child presenting to us with severe failure to thrive, dysmorphic features, hirsutism, external ophthalmoplegia epilepsy, and neuroregression with characteristic findings of Leigh’s syndrome on neuroimaging and her muscle biopsy revealed evidence of mitochondrial respiratory chain defect involving complex IV and SURF1 mutation.
Source: Journal of Pediatric Neurosciences - Category: Neuroscience Authors: Source Type: research

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This is an MRI image obtain in alcoholic beggar presented with ataxia, ophthalmoplegia and acute confusional state. Red arrow shows hyperintense signal around mamillary bodies and yellow arrow around periaqueductal area.Important Point :MRI  in wernicke's encephalopathy shows hyperintense T2/FLAIR signal involving the mamillary bodies, dorsomedial thalami, tectal plate, periaqueductal area, and around 3rd ventricle.Famous Radiology Blog http://www.sumerdoc.blogspot.com TeleRad Providers at www.teleradproviders.com Mail us at sales@teleradproviders.com
Source: Sumer's Radiology Site - Category: Radiology Authors: Source Type: blogs
Initiating NURTEC ODT Phase 3 study for acute migraine in China and Korea, and China registrational study of troriluzole in Spinocerebellar Ataxia in 4Q20 Named Donnie McGrath as BioShin President and Executive Chairman, and Karl Lintel as BioShin Chief... Biopharmaceuticals, Personnel, Venture Capital Biohaven Pharmaceutical Holding Company, BioShin , NURTEC ODT
Source: HSMN NewsFeed - Category: Pharmaceuticals Source Type: news
Dear Dr. Marcus:As current President and immediate Past-President of the Heart Rhythm Society (HRS), we would like to extend our sincerest gratitude for all you have contributed to the field of electrophysiology. You have served as a mentor, educator, and role model for so many in our field. Although we may not have had the opportunity to work with you directly, we all have benefited immensely from your dedication to education, research, and patient care. We all have learned so much from you. Your pioneering work on arrhythmogenic right ventricular cardiomyopathy and catheter ablation has forever changed the lives of so ma...
Source: Heart Rhythm - Category: Cardiology Authors: Tags: Leadership Letter Source Type: research
Conclusion: Physicians and scientists around the globe should be aware of the psychological consequences of COVID-19 and their potential to cause physical illness.Cardiology
Source: Cardiology - Category: Cardiology Source Type: research
(Funda ç ã o de Amparo à Pesquisa do Estado de S ã o Paulo) Brazilian research group shows that valproic acid (VPA), used to treat epilepsy since the 1960s, modulates gene expression in tumor gene models and acts on DNA conformation and the histones in chromatin.
Source: EurekAlert! - Cancer - Category: Cancer & Oncology Source Type: news
So, I was told that my brother and I are "famous" among students at my local med school because of our having hypertrophic cardiomyopathy and being treated there our whole lives. I honestly don't know what that means, but I do feel a little embarrassed knowing that people other than my doctor are aware of me not taking care of myself. Though my primary concern is whether or not that would affect my applying there. It is my first choice since I'm trying to stay close to my widowed mother.
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Pre-Medical - MD Source Type: forums
Discussion Syphilis is caused by the spirochete Treponema pallidum. It is a very old disease that despite understanding the organism and readily available treatment, still causes disease. Syphilis is transmitted sexually. According to the Centers for Disease Control, “[i]n 2018, a total of 35,063 cases of [Primary and Secondary] syphilis were reported in the United States, yielding a rate of 10.8 cases per 100,000 population …. This rate represents a 14.9% increase compared with 2017 (9.4 cases per 100,000 population), and a 71.4% increase compared with 2014 (6.3 cases per 100,000 population).” The incre...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Duchenne/Becker muscular dystrophy (DMD/BMD) is a progressive skeletal myopathy as well as a cardiomyopathy. Historically, it is reported that patients with DMD/BMD experience significant morbidity/mortality as a result of rhythm abnormalities. However, natural history data is limited regarding the specific mode of death, e.g. heart failure vs. sudden cardiac death vs. non-cardiac death. We identified 82 patients at our institution to analyze retrospectively (67 DMD/15 BMD). Average age was 21 (range 10-38) years.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
We report the clinical profiles of two 18 year old patients with DMD with moderate-severe LVSD who were found to have decreased renal function on routine monitoring. Patient A was diagnosed with mild LVSD at age 6 years (LVFS 24% per echocardiogram) and was started on lisinopril.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Patients with Duchenne and Becker muscular dystrophy (DBMD) have multisystem care needs for motor, cardiac, pulmonary, neurobehavioral health problems and bone and endocrine co-morbidities from glucocorticoid therapy. Carrier moms and sisters are at risk for cardiomyopathy. The Duchenne program at University of Massachusetts Medical School was established to overcome the coordination challenges of function-based specialist care groups. Lack of an integrated care management framework results in fragmented care and suboptimal outcomes.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
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