scholarly journals CNS inflammatory demyelinating disorders: MS, NMOSD and MOG antibody associated disease

2019 ◽  
Vol 68 (2) ◽  
pp. 321-330 ◽  
Author(s):  
Jacqueline F Rosenthal ◽  
Benjamin M Hoffman ◽  
William R Tyor
Keyword(s):  
Clinical Presentation ◽  
Clinical Indicators ◽  
Demyelinating Disorder ◽  
Neurological Exam ◽  
History Of ◽  
Mog Antibodies ◽  
Diagnostic Work ◽  
Demyelinating Disorders ◽  
Work Up ◽  
Reliable Testing

Although Multiple Sclerosis is the most common central nervous system (CNS) inflammatory demyelinating disorder, other CNS inflammatory disorders should be included as diagnostic considerations. Neuromyelitis Optica Spectrum Disorder (NMOSD) and myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease are less common but share some clinical characteristics, such as optic neuritis and myelitis, which can make a specific diagnosis challenging. However, these disorders have distinctive and generally different clinical phenotypes, prognosis and management. It is imperative to distinguish each from one another, especially since the treatments (not discussed in this review) can be different. The advent of reliable testing for anti-aquaporin-4 for NMOSD and anti-MOG antibodies has helped significantly; however, diagnosis can remain challenging, especially in sero-negative cases. Clinical indicators are important to guide diagnostic work-up. Careful review of the history, neurological exam, imaging, and/or spinal fluid results are essential to making an accurate diagnosis. In this review, we will examine the clinical presentation, diagnosis, and natural history of these inflammatory CNS disorders.

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

2021 ◽  
Vol 23 (Supplement_G) ◽  
Author(s):  
Marco Lombardi ◽  
Marco Giuseppe Del Buono ◽  
Giuseppe Princi ◽  
Gabriella Locorotondo ◽  
Antonella Lombardo ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Oxygen Desaturation ◽  
Ascending Aortic Aneurysm ◽  
Intracardiac Shunt ◽  
Functional Defect ◽  
Life Threatening ◽  
History Of ◽  
Diagnostic Work ◽  
Work Up ◽  
Treatable Condition

Abstract 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.

Schwannomas of the Nose and Paranasal Sinuses

1993 ◽  
Vol 7 (2) ◽  
pp. 59-65 ◽  
Author(s):  
John R. Wanamaker ◽  
Hayes H. Wanamaker ◽  
Bernard Kotton ◽  
Greg D. Akers ◽  
Pierre Lavertu
Keyword(s):  
Paranasal Sinuses ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Diagnostic Techniques ◽  
Therapeutic Approaches ◽  
Management Philosophy ◽  
Nose And Paranasal Sinuses ◽  
Therapeutic Tools ◽  
Diagnostic Work ◽  
Work Up

Schwannomas are benign neoplasms arising from the peripheral nerve sheath. The sinonasal tract is an unusual location for these neoplasms. Because of their rarity, few series have been reported. Five previously unreported cases of schwannomas of the nose and paranasal sinuses are presented that illustrate the spectrum of disease. The clinical presentation, diagnostic work-up, clinical course, and diverse therapeutic approaches will be discussed. A management philosophy based on the diversity of these tumors and their clinical behavior, and incorporating the new diagnostic and therapeutic tools available to the clinician will be presented. The implications of newer diagnostic techniques including sinonasal endoscopy, magnetic resonance imaging, and immuno-chemistry in the diagnosis and treatment of these tumors will be discussed.

scholarly journals Parasitic hypereosinophilia in childhood: a diagnostic challenge

2018 ◽  
Vol 10 (1) ◽  
pp. 2018034
Author(s):  
Roberto Antonucci ◽  
Nadia Vacca ◽  
Giulia Boz ◽  
Cristian Locci ◽  
Rosanna Mannazzu ◽  
...  
Keyword(s):  
Eosinophil Count ◽  
Hypereosinophilic Syndrome ◽  
Igg Antibodies ◽  
Diagnostic Challenge ◽  
Etiological Diagnosis ◽  
Maximum Value ◽  
History Of ◽  
Diagnostic Work ◽  
Patient’S History ◽  
Work Up

Severe hypereosinophilia (HE) in children is rare, and its etiological diagnosis is challenging. We describe a case of a 30-month-old boy, living in a rural area, who was admitted to our Clinic with a 7-day history of fever and severe hypereosinophilia. A comprehensive diagnostic work-up could not identify the cause of this condition. On day 6, the rapidly increasing eosinophil count (maximum value of 56,000/mm3), the risk of developing hypereosinophilic syndrome, and the patient’s history prompted us to undertake an empiric treatment with albendazole.The eosinophil count progressively decreased following treatment. On day 13, clinical condition and hematological data were satisfactory, therefore the treatment was discontinued and the patient was discharged. Three months later, anti-nematode IgG antibodies were detected in patient serum, thus establishing the etiological diagnosis. In conclusion, an empiric anthelmintic treatment seems to be justified when parasitic hypereosinophilia is strongly suspected, and other causes have been excluded.

Imaging the abdomen in the critically ill

2016 ◽  
Author(s):  
Imran Khalid Niazi ◽  
Navin Ramachandran
Keyword(s):  
Critically Ill ◽  
Clinical History ◽  
Clinical State ◽  
Critically Ill Patient ◽  
Mechanical Ventilators ◽  
Clinical Indicators ◽  
Diagnostic Uncertainty ◽  
Patient Will ◽  
Diagnostic Work ◽  
Work Up

Abdominal evaluation of the critically-ill patient is challenging. The patient may have a vague presentation, sometimes with a poor clinical history, few localizing signs, multiple co-morbidities and multi-organ involvement. Often the patient will require resuscitation prior to diagnostic work-up, and support devices such as mechanical ventilators and haemofilters may hamper assessment. Such unreliability of clinical indicators and the myriad of abdominal pathologies in a critically-ill patient may lead to diagnostic uncertainty with consequent delays in treatment. These challenges make imaging one of the most critical steps in the management of such patients. The optimal imaging pathway should be sensitive, specific, and minimize delay in therapy, but should also account for the patient’s clinical state and overall radiation dose. The modalities that have a role in abdominal evaluation of the critically ill are covered in this chapter.

scholarly journals Mitochondrial Depletion Syndromes in Children and Adults

2013 ◽  
Vol 40 (5) ◽  
pp. 635-644 ◽  
Author(s):  
Josef Finsterer ◽  
Uwe Ahting
Keyword(s):  
Early Onset ◽  
Genetic Background ◽  
Clinical Presentation ◽  
Progressive External Ophthalmoplegia ◽  
Adult Onset ◽  
Chain Defects ◽  
Diagnostic Work ◽  
Work Up ◽  
Respiratory Chain Defects ◽  
Diagnostic Work Up

Abstract:To highlight differences between early-onset and adult mitochondrial depletion syndromes (MDS) concerning etiology and genetic background, pathogenesis, phenotype, clinical presentation and their outcome. MDSs most frequently occur in neonates, infants, or juveniles and more rarely in adolescents or adults. Mutated genes phenotypically presenting with adult-onset MDS include POLG1, TK2, TyMP, RRM2B, or PEO1/twinkle. Adult MDS manifest similarly to early-onset MDS, as myopathy, encephalo-myopathy, hepato-cerebral syndrome, or with chronic progressive external ophthalmoplegia (CPEO), fatigue, or only minimal muscular manifestations. Diagnostic work-up or treatment is not at variance from early-onset cases. Histological examination of muscle may be normal but biochemical investigations may reveal multiple respiratory chain defects. The outcome appears to be more favorable in adult than in early-onset forms. Mitochondrial depletion syndromes is not only a condition of neonates, infants, or juveniles but rarely also occurs in adults, presenting with minimal manifestations or manifestations like in the early-onset forms. Outcome of adult-onset MDS appears more favorable than early-onset MDS.

scholarly journals Aberrant Pancreas: Diagnostics and Therapeutic Tactics. Clinical Observation

2020 ◽  
Vol 16 (30) ◽  
pp. 32-37
Author(s):  
I.V. Savina ◽  
◽  
K.A. Lesko ◽  
Ye.V. Bistrovskaya ◽  
M.A. Kiryukova ◽  
...  
Keyword(s):  
Clinical Observation ◽  
Clinical Presentation ◽  
Pancreatic Pseudocysts ◽  
Duodenal Wall ◽  
Recurrent Pancreatitis ◽  
Cancer Risk Factors ◽  
Tailored Treatment ◽  
Aberrant Pancreas ◽  
History Of ◽  
Work Up

Aberrant pancreas is a result of impaired embryogenesis. The clinical presentation varies and mimics different diseases. The diagnostics complexity makes specialists conduct the patients’ work-up more thoroughly. Chronic recurrent pancreatitis is one of pancreatic cancer risk factors. Tobacco and alcohol consumption significantly increases the risk of developing aberrant pancreas. The article presents a clinical case of a 37-year-old man with a 10-year history of chronic pancreatitis mainly highlighting the diagnostics of aberrant pancreas. The disease manifested with an episode of acute pancreatitis and pancreonecrosis treated in a hospital. Pancreatic pseudocysts were diagnosed four years later. However, only six years after, aberrant pancreas in stomach and cystic dystrophy of duodenal wall were diagnosed. Accurate diagnosis allowed tailored treatment and avoiding surgery.

Rhinomyiasis: clinical and surgical management

2020 ◽  
Vol 13 (12) ◽  
pp. e236421
Author(s):  
Fabio Bertone ◽  
Marta Cerutti ◽  
Elena Serusi ◽  
Carmine Fernando Gervasio
Keyword(s):  
Clinical Presentation ◽  
Endoscopic Examination ◽  
Northern Italy ◽  
Sinus Surgery ◽  
Mediterranean Countries ◽  
Uncommon Disease ◽  
Therapeutic Procedures ◽  
Diagnostic Work ◽  
Work Up ◽  
Diptera Larvae

Myiasis by Oestrus ovis, the zoonotic infestation with Diptera larvae, primarily diagnosed in goats and rams in tropical and Mediterranean countries, is an uncommon disease in humans; indeed, literature data are still lacking. Nevertheless, few cases of human myiasis have been reported, leading to benign or severe complications. Here, we report a rare case of human rhinomyiasis detected in Northern Italy. A 39-year-old Italian woman, returning from vacation in Corsica, showed several sinusal symptoms and progressive asthenia and was therefore admitted at the Otorhinolaryngology Unit of Biella Hospital, Italy. Endoscopic examination of the nasal cavity revealed some formations, morphologically identified as O. ovis larvae. The patient then underwent endoscopic sinus surgery, followed by complete resolution of symptoms. Clinical presentation, diagnostic work-up and therapeutic procedures have been compared with few other cases found in the literature.

scholarly journals Variants in HNRNPDL and SETX Not Necessarily Indicate Familial Amyotrophic Lateral Sclerosis or Limb Girdle Muscular Dystrophy 1G in Acute Muscular Respiratory Failure

2020 ◽  
Vol 11 (02) ◽  
pp. 353-354
Author(s):  
Josef Finsterer ◽  
Claudia Stöllberger ◽  
Hans Keller ◽  
Franco Laccone
Keyword(s):  
Respiratory Failure ◽  
Variants Of Unknown Significance ◽  
Non Invasive ◽  
Non Invasive Ventilation ◽  
Unknown Significance ◽  
History Of ◽  
History Of Epilepsy ◽  
Diagnostic Work ◽  
Conclusive Diagnosis ◽  
Work Up

AbstractGenetic work-up is useful for the identification of a primary myopathy. However, even sophisticated genetic methods may fail to detect the underlying cause of myopathy as in the following case. The patient is a 52-year-old female with a history of epilepsy, arterial hypertension, atrial flutter requiring cardioversion, ablation, and anticoagulation, coronary heart disease, hyperlipidemia, and hyper-CKemia. At age 52 years, she was referred for heart failure due to ischemic cardiomyopathy requiring appropriate medication and implantation of an ICD. During hospitalization she developed acute muscular respiratory failure requiring mechanical ventilation. Genetic panels for myopathy, neuropathy, and cardiomyopathy revealed variants of unknown significance in the HNRNPDL and SETX genes respectively. Clinical presentation and muscle biopsy, however, suggested metabolic myopathy. Acute muscular respiratory failure may require traditional diagnostic work-up for primary myopathy and long-term invasive and non-invasive ventilation. Panel investigations not necessarily lead to a conclusive diagnosis. The multisystem nature of the condition rather suggests a metabolic defect than LGMD-1G or fALS as genetic findings suggested.

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