Dancing Eyes

A 25-month-old boy presented with abnormal eye movements, a history of myoclonic jerks progressing to near-continuous tremulousness, and unsteadiness of gait for the last month. He also had irritability, reduced sleep, and feeding difficulties. He was born to nonconsanguineous parents, had a smooth perinatal transition, and was developmentally normal before this presentation. Examination revealed normal head size, extreme irritability, truncal ataxia, peculiar eye movements, and tremulousness (Video; available at www.jpeds.com), which led to a syndromic diagnosis of opsoclonus myoclonus ataxia syndrome.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Rediscovering the Physical Exam Source Type: research

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To describe a patient with sleep alleviated episodic ataxia type 2 with a novel CACNA1A pathogenic variant and provide a possible link to sleep responsive migraine.
Source: BMC Neurology - Category: Neurology Authors: Tags: Case report Source Type: research
Publication date: Available online 15 October 2019Source: International Review of NeurobiologyAuthor(s): Douglas B. Matthews, Amelia Schneider, Abigail Kastner, Samantha Scaletty, Rachel SzenayAbstractThe population of most countries is increasing and the United Nations predicts that by the year 2050 those over the age of 60 years old will increase from 900 million individuals to approximately 2.1 billion individuals (United Nations, 2015). The increase in the number of older individuals will place a strain on many national health care systems making it important to investigate behaviors in the aged that may negatively imp...
Source: International Review of Neurobiology - Category: Neuroscience Source Type: research
Abstract Autoimmune encephalitides, with an estimated incidence of 1.5 per million population per year, although described only 15 years ago, have already had a remarkable impact in neurology and paved the field to autoimmune neuropsychiatry. Many patients traditionally presented with aberrant behavior, especially of acute or subacute onset, and treated with anti-psychotic therapies, turn out to have a CNS autoimmune disease with pathogenic autoantibodies against synaptic antigens responding to immunotherapies. The review describes the clinical spectrum of these disorders, and the pathogenetic role of key autoanti...
Source: Journal of Autoimmunity - Category: Allergy & Immunology Authors: Tags: J Autoimmun Source Type: research
This article has an associated First Person interview with the joint first authors of the paper.
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: Metabolic Disorders RESEARCH ARTICLE Source Type: research
This study elucidates the potential to use mitochondria from different donors (PAMM) to treat UVR stress and possibly other types of damage or metabolic malfunctions in cells, resulting in not only in-vitro but also ex-vivo applications. Gene Therapy in Mice Alters the Balance of Macrophage Phenotypes to Slow Atherosclerosis Progression https://www.fightaging.org/archives/2019/07/gene-therapy-in-mice-alters-the-balance-of-macrophage-phenotypes-to-slow-atherosclerosis-progression/ Atherosclerosis causes a sizable fraction of all deaths in our species. It is the generation of fatty deposits in blood vessel...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
This study describes neuropsychiatric and neurocognitive manifestations of South African children with suspected efavirenz neurotoxicity. Method: This retrospective study describes clinical features of 12 children with features consistent with efavirenz neurotoxicity between 2008 and 2014. Results: Twelve children (4 males, 8 females) aged 3.3-12 years (median 8.4 years) were referred to a dedicated pediatric neuroHIV service. Eight were of indigenous African (black) ancestry and 4 were of mixed ancestry. Two children (both of black ancestry) were phenotypically slow metabolizers and presented with drowsiness, seizures...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Purpose of review Anti-IgLON5 disease is a novel entity characterized by a distinctive sleep disorder associated with a variety of neurological symptoms, antibodies against IgLON5, and pathological findings of neuronal tauopathy. The characteristic sleep disorder occurs in most patients, but other neurological symptoms are also important because they can be the presenting and most disabling problem and mimic other conditions. This review focuses on nonsleep neurological symptoms and presentations of anti-IgLON5 disease. Recent findings Apart from sleep problems, the most frequent neurological symptoms in anti-IgLON5 d...
Source: Current Opinion in Neurology - Category: Neurology Tags: WIDENING SPECTRUM OF CNS INFLAMMATORY DISORDERS OF THE CNS: Edited by Francesc Graus Source Type: research
Albert Sanfeliu1, Karsten Hokamp2, Michael Gill1 and Daniela Tropea1,3*1Neuropsychiatric Genetics, Department of Psychiatry, School of Medicine, Trinity Translational Medicine Institute, St James Hospital, Dublin, Ireland2Department of Genetics, School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland3Department of Psychiatry, School of Medicine, Trinity College Institute for Neuroscience, Trinity College Dublin, Dublin, IrelandRett syndrome is a rare neuropsychiatric disorder with a wide symptomatology including impaired communication and movement, cardio-respiratory abno...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Conclusion This study described four Chinese LINCL siblings who were diagnosed by WES. The patients of these four families had similar disease courses started from motor regression or seizures to cognition regression and visual loss but carried mutations in different genes i.e. CLN2, CLN5, CLN6, and CLN7. The clinical features of LINCLs in these four Chinese siblings were not significantly different from those of Western patients. However, all Chinese LINCL patients in this study presented similar clinical course despite the affected genes. We assumed it as an ethnic specific clinical course according to our observation. ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
ConclusionsDifferent patterns of sleep disturbances are observed in HD patients: insomnia, difficulties in falling asleep, frequent nocturnal awakenings, and excessive daytime sleepiness are the most common sleep problems reported by patients with HD. In several HD studies, specific changes in sleep architecture and in circadian melatonin secretion were identified in laboratory testing.Sleep disorders in HD have diverse and complex determinants, the most significant of which includes damage to brain areas that are responsible for the proper sleep pattern and circadian rhythm regulation. Sleep and circadian rhythm disorders...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
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