Laterotrusion (Side to Side) and Protrusion/Retraction Difficulty of Tongue in Two Children with Wilson's Disease

Involvement of tongue is uncommon in Wilson's disease (WD) in early stages. This is usually seen late when the patient has an established neurological WD associated with dyskinesia, dystonia, and tremors. In this article, we presented two children with tongue involvement in which there were slow laterotrusion (side to side) and protrusion and retraction movements. In the first child this was the early and only manifestation without any other neurological features while in the second child this was seen in a previously diagnosed WD. Slow tongue movements in any child with or without extrapyramidal features should be investigated to rule out a treatable condition like WD. Tongue involvement is common in children with different neurological/neuromuscular diseases, drugs, and other unknown conditions.

79 Platypnea–orthodeoxia syndrome as an uncommon cause of dyspnoea in a nonagenarian with aortic dissection

Methods and results Platypnea–Orthodeoxia syndrome (POS) is an uncommon but challenging clinical condition characterized by positional dyspnoea (platypnea) and arterial desaturation (orthodeoxia) in the upright position that improve in the supine position. POS can occur insidiously, as progressive unexplained oxygen desaturation for months or years, or as acute life-threatening unexplained hypoxaemia. The most common cause is the presence of an intracardiac shunt (patent foramen ovale and other interatrial defects) associated with a secondary anatomic or functional defect that serve as substrate for a right to left intracardiac shunt leading to oxygen desaturation. Conclusions Herein we present the case of a nonagenarian with a known history of ascending aortic aneurysm, that was admitted to the emergency department of our institution with a complaint of intermittent chest pain and dyspnoea. POS was then diagnosed, and the patient underwent a successful percutaneous closure with an Amplatzer™ device (25/25 mm) with minimal residual right-to-left shunt leading to a significant relief of the dyspnoea and improvement of arterial saturation. We also herein revise the clinical presentation, pathophysiology, diagnostic work-up, and management of patients with POS, aiming at increasing the awareness of this uncommon but often misdiagnosed treatable condition.

Sarcopenia: Diagnosis and Management, State of the Art and Contribution of Ultrasound

Age-related muscle loss is a phenomenon that has been extensively studied in recent decades. Sarcopenia is a multisystem disease, which predisposes to muscle weakness and frailty. At around 50 years of age, an individual begins to lose muscle strength, although this becomes more evident after 70. Sarcopenia is a condition typically found in older adults but can also affect younger people. Sarcopenia is a preventable and treatable condition. In past years, methods and tools to recognize the condition early have been researched. For the development of therapeutic interventions, agreement on diagnosis is fundamental. In recent years, a possible role of ultrasonography in the diagnosis of sarcopenia has been evaluated, compared with the best-known techniques.

Isolated proximal weakness of the legs due to neuroborreliosis

Proximal muscle weakness of the legs is a symptom with a broad differential diagnosis. It is mainly caused by neuromuscular disorders and is often a diagnostic challenge. Here, we present a 73-year-old man with isolated proximal weakness of the legs due to lumbar root involvement on the basis of neuroborreliosis. After treatment with intravenous antibiotics he recovered completely. This is the first described case with isolated proximal muscle weakness of the legs due to neuroborreliosis. Despite the fact neuroborreliosis is a rare cause of proximal muscle weakness of the legs, clinicians should include it in their differential diagnosis, especially since it is a treatable condition.

Circulating microRNAs as Diagnostic Markers in Primary Aldosteronism

Primary aldosteronism (PA) is a common and highly treatable condition, usually resulting from adrenocortical tumorous growth or hyperplasia. PA is currently underdiagnosed owing to its complex and protracted diagnostic procedures. A simplified biomarker-based test would be highly valuable in reducing cardiovascular morbidity and mortality. Circulating microRNAs are emerging as potential biomarkers for a number of conditions due to their stability and accessibility. PA is known to alter microRNA expression in adrenocortical tissue; if these changes or their effects are mirrored in the circulating miRNA profile, then this could be exploited by a diagnostic test. However, the reproducibility of studies to identify biomarker-circulating microRNAs has proved difficult for other conditions due to a series of technical challenges. Therefore, any studies seeking to definitively identify circulating microRNA biomarkers of PA must address this in their design. To this end, we are currently conducting the circulating microRNA arm of the ongoing ENS@T-HT study. In this review article, we present evidence to support the utility of circulating microRNAs as PA biomarkers, describe the practical challenges to this approach and, using ENS@T-HT as an example, discuss how these might be overcome.

Spectrum of remote site extradural hematomas following decompressive craniectomy: Does fracture always co-exist?

Background: Remote-site extradural hematomas (EDHs) after decompressive-surgeries for traumatic brain injury (TBI) are rarely encountered. Typically, they form contralateral to the injured side, with an overlying fracture. We present a subset which developed EDH immediately after decompressive-hemi-craniectomy for TBI, most without an evidence of fracture, and not limited to contralateral location. Methods: Nine such patients were retrospectively identified. Plausible mechanisms, management issues and outcomes have been discussed. Results: All nine patients were victims of severe-TBI. Six did not have any skull-fractures. Eight showed hemispheric-injuries while one had bifrontal-contusions. In hemispheric-injuries, midline-shift was at least 8 mm except one with midline-shift of 6 mm. The EDH was straddling the midline in 2 (bifrontal-1, bi-occipital-1), and juxtaposed to the previous craniectomy in 1, apart from a contralateral-bleed in 6; all, except one, needed evacuation. In most patients, venous-source of bleed was identified. All had improved from their preoperative Glasgow coma scale (GCS) at follow-up. Conclusion: A fracture need not always co-exist in EDH following decompressive craniectomy. However, an extra-caution is suggested in its presence. Given the need for surgical-evacuation in most patients and an inability to assess immediate postoperative-GCS in severely head-injured, a routine postoperative-computed tomography is recommended to avoid overlooking such potentially treatable condition.

Death Anxiety and Attitudes towards Death in Patients with Multiple Sclerosis: An Exploratory Study

Background: Death and the anxiety of it becomes more apparent when confronted with a chronic disease. Even though multiple sclerosis (MS) is a treatable condition today, it is still accompanied by a multitude of impairments, which in turn may intensify of death anxiety. Objective: The aim of this study is to explore the relationship between depression, anxiety and death anxiety in individuals with MS. Methods: Fifty-six MS patients were recruited at the Department of Neurology of the University Clinic in Basel. Death anxiety was assessed using the Bochumer Questionnaire on attitude to death and death anxiety 2.0 (BOFRETTA 2.0). Results: Scores of death anxiety towards it in MS patients were low. Only disability (EDSS) was moderately correlated with death anxiety. Depression in MS was significantly correlated with fatigue and disability, but not with the BOFRETTA 2.0. Conclusion: Scores of death anxiety and the attitude towards death are low in this MS cohort. It was shown that both psychopathological and neurological deficits impact the subject of death with respect to multiple sclerosis.

Autoimmune Neurogenic Dysphagia

Autoimmune neurogenic dysphagia refers to manifestation of dysphagia due to autoimmune diseases affecting muscle, neuromuscular junction, nerves, roots, brainstem, or cortex. Dysphagia is either part of the evolving clinical symptomatology of an underlying neurological autoimmunity or occurs as a sole manifestation, acutely or insidiously. This opinion article reviews the autoimmune neurological causes of dysphagia, highlights clinical clues and laboratory testing that facilitate early diagnosis, especially when dysphagia is the presenting symptom, and outlines the most effective immunotherapeutic approaches. Dysphagia is common in inflammatory myopathies, most prominently in inclusion body myositis, and is frequent in myasthenia gravis, occurring early in bulbar-onset disease or during the course of progressive, generalized disease. Acute-onset dysphagia is often seen in Guillain–Barre syndrome variants and slowly progressive dysphagia in paraneoplastic neuropathies highlighted by the presence of specific autoantibodies. The most common causes of CNS autoimmune dysphagia are demyelinating and inflammatory lesions in the brainstem, occurring in patients with multiple sclerosis and neuromyelitis optica spectrum disorders. Less common, but often overlooked, is dysphagia in stiff-person syndrome especially in conjunction with cerebellar ataxia and high anti-GAD autoantibodies, and in gastrointestinal dysmotility syndromes associated with autoantibodies against the ganglionic acetyl-choline receptor. In the setting of many neurological autoimmunities, acute-onset or progressive dysphagia is a potentially treatable condition, requiring increased awareness for prompt diagnosis and early immunotherapy initiation.

Spectrum of ocular manifestations and visual outcomes of neurosyphilis among 53 patients

ABSTRACT Background: In the era of the re-emergence of syphilis, ocular syphilis has gained attention because its prevalence has increased and it can cause blindness and disability. Objectives: To investigate the clinical presentation and prognosis of ocular syphilis. Methods: Prospective study on 53 patients (90 eyes) with ocular syphilis diagnosed at the Santa Casa of Belo Horizonte, Brazil. The diagnosis was based on clinical manifestations of the disease and on serological markers (positive serum treponemal and non-treponemal tests or two positive treponemal tests). Results: Thirty-five eyes (66%) were from men and the mean age was 45.3 ± 12.0 years. HIV coinfection was confirmed in 10 patients (18.9%). Forty-four (84.9%) had VDRL titers ≥ 1:32. Bilateral ocular involvement occurred in 68%. Optic neuritis was diagnosed in 51.7% of the eyes and uveitis in 48.2%. Regarding visual acuity, the median baseline logarithm of the minimum angle of resolution (logMAR) was 1 (20/200 Snellen), while after antibiotic therapy, the median was 0.2 (20/30 Snellen). Poor visual acuity after treatment, defined as the best-corrected visual acuity (BCVA; logMAR 1; 20/200 Snellen) or worse, was associated with severe BCVA at presentation (below logMAR 1.3; 20/400 Snellen) (p = 0.001) and age over 50 years (p = 0.001). Conclusions: This study confirms the wide spectrum of clinical manifestations of ocular syphilis. The most frequent form was optic neuritis, an important differential diagnosis from other causes of inflammatory neuritis. Early diagnosis is essential, given that this is a treatable condition with excellent visual recovery in most cases.