scholarly journals Multisystem Involvement in Post‐acute Sequelae of COVID ‐19 ( PASC )

2021 ◽  
Author(s):  
Peter Novak ◽  
Shibani S. Mukerji ◽  
Haitham S. Alabsi ◽  
David Systrom ◽  
Sadie P. Marciano ◽  
...  
Keyword(s):  
Multisystem Involvement

scholarly journals A young man presenting with encephalopathy and seizures secondary to SARS-CoV-2

2021 ◽  
Vol 14 (3) ◽  
pp. e240576
Author(s):  
Bilal Athar Jalil ◽  
Mohsin Ijaz ◽  
Amir Maqbul Khan ◽  
Thomas Glenn Ledbetter
Keyword(s):  
Respiratory Illness ◽  
Viral Meningitis ◽  
The Other ◽  
New Disease ◽  
Unique Case ◽  
Multisystem Involvement ◽  
Disease Associations ◽  
Viral Illness ◽  
Structural Brain ◽  
New Onset

COVID-19 has now emerged from a respiratory illness to a systemic viral illness with multisystem involvement. There is still a lot to learn about this illness as new disease associations with COVID-19 emerge consistently. We present a unique case of a neurological manifestation of a patient with structural brain disease who was COVID-19 positive and developed mental status changes, new-onset seizures and findings suggestive of viral meningitis on lumbar puncture. We also review the literature and discuss our case in the context of the other cases reported. We highlight the value of considering seizures and encephalopathy as one of the presenting features of COVID-19 disease.

Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement

2021 ◽  
Author(s):  
Pelin Teke Kısa ◽  
Gonca Kilic Yildirim ◽  
Burcu Ozturk Hismi ◽  
Sevil Dorum ◽  
Ozge Yilmaz Kusbeci ◽  
...  
Keyword(s):  
Cerebrotendinous Xanthomatosis ◽  
Multisystem Involvement

Complex combined trisomy 14 and 21 mosaicism and multisystem involvement in a newborn

2021 ◽  
Vol 132 ◽  
pp. S193
Author(s):  
Liliam Aquino Crisanto ◽  
Pablo Napky Raudales ◽  
Stephen Girgis ◽  
Parul Jayakar
Keyword(s):  
Multisystem Involvement

scholarly journals An orphan disease: IgG4-related spinal pachymeningitis: report of 2 cases

2016 ◽  
Vol 25 (6) ◽  
pp. 790-794 ◽  
Author(s):  
Bishan D. Radotra ◽  
Ashish Aggarwal ◽  
Ankur Kapoor ◽  
Navneet Singla ◽  
Debajyoti Chatterjee
Keyword(s):  
Plasma Cells ◽  
Treatment Guidelines ◽  
Spinal Tumor ◽  
Spinal Tumors ◽  
Igg4 Related Disease ◽  
Inflammatory Conditions ◽  
Lumbar Level ◽  
Multisystem Involvement ◽  
Spinal Compression ◽  
Storiform Fibrosis

IgG4-related disease is relatively new disease entity and a rare one, and our knowledge of this entity continues to evolve. It was first described in the pancreas and since then has been described in virtually every organ. Spinal involvement resulting in pachymeningitis is rare, and there are only 8 reported cases of the same to date, with the cervicothoracic spine being the most commonly affected region. The authors describe 2 cases in which the patients presented with spinal compression resulting in myeloradiculopathy (Case 1) and radiculopathy (Case 2). Imaging of spine in both cases revealed an ill-defined contrast-enhancing lesion at the lumbar level. Preoperatively, a diagnosis of spinal tumor was made, but intraoperatively no spinal tumor was found. The diagnosis was established histopathologically. The disease has no particular defining features clinically or radiologically and can mimic common spinal tumors. It is important to accurately diagnose this rare entity because of its multisystem involvement and progressive course. Strict treatment guidelines have yet to be formulated. Although histologically this disease can mimic other inflammatory conditions, the presence of storiform fibrosis and an increased number of IgG4-positive plasma cells can help in clarifying the diagnosis.

scholarly journals Beyond cervical lipomas: myoclonus, gait disorder and multisystem involvement leading to mitochondrial disease

2017 ◽  
pp. bcr-2016-218861 ◽  
Author(s):  
Roberto López-Blanco ◽  
Ana Rojo-Sebastián ◽  
Maria Henedina Torregrosa-Martínez ◽  
Alberto Blazquez
Keyword(s):  
Mitochondrial Disease ◽  
Gait Disorder ◽  
Multisystem Involvement

scholarly journals COVID-19 in Children

2021 ◽  
Vol 41 (1) ◽  
pp. 15-21
Author(s):  
Diana Didović ◽  
Srđan Roglić ◽  
Lorna Stemberger-Marić ◽  
Ivana Valenčak-Ignjatić ◽  
Andrea Nikčević
Keyword(s):  
Clinical Presentation ◽  
Viral Infections ◽  
Rare Complication ◽  
Older Children ◽  
Symptomatic Infection ◽  
Number Of Children ◽  
Multisystem Involvement ◽  
Laboratory Results ◽  
Inflammatory Syndrome

COVID-19 in children accounts for up to 8% of all the cases and is less severe than in adults. This could be an underestimation. A significant number of children are asymptomatic. Symptomatic infection is hard to distinguish from other respiratory tract viral infections based on symptoms and laboratory results. Anosmia is the only symptom in children that is highly suggestive of COVID-19. Infected children mostly have a positive household member. However, the role of children in SARS-CoV-2 transmission is still controversial. Data suggest that schoolchildren have a greater impact in SARS-CoV-2 transmission compared to younger children. Multisystem inflammatory syndrome in children is a new entity reported since April 2020 and is considered a rare complication of SARS-CoV-2 infection. It occurs in previously healthy older children and adolescents presenting with multisystem involvement and elevated inflammatory markers. Most children respond well to immune-modifying therapy. Treatment of COVID-19 in children is based solely on data received from adults and consists of supportive treatment and, in rare occasions, antiviral therapy (remdesivir), corticosteroids (dexamethasone) and monoclonal antibodies (tocilizumab). Further studies in children are needed in order to better understand this disease. This article discusses clinical presentation and therapeutic options for COVID-19 in children.

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency

Neurology ◽  
2018 ◽  
Vol 91 (11) ◽  
pp. e1077-e1082 ◽  
Author(s):  
John Vissing ◽  
H. Orhan Akman ◽  
Jan Aasly ◽  
Stephen G. Kahler ◽  
Carlos A. Bacino ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Exercise Test ◽  
Case Series ◽  
Phosphoglycerate Kinase ◽  
Oxidative Capacity ◽  
Red Cells ◽  
Mild Intellectual Disability ◽  
Multisystem Involvement ◽  
Case Series Study ◽  
Series Study

ObjectiveTo study the variable clinical picture and exercise tolerance of patients with phosphoglycerate kinase (PGK) 1 deficiency and how it relates to residual PGK enzyme activity.MethodsIn this case series study, we evaluated 7 boys and men from 5 families with PGK1 deficiency. Five had pure muscle symptoms, while 2 also had mild intellectual disability with or without anemia. Muscle glycolytic and oxidative capacities were evaluated by an ischemic forearm exercise test and by cycle ergometry.ResultsEnzyme levels of PGK were 4% to 9% of normal in red cells and 5% to10% in muscle in pure myopathy patients and 2.6% in both muscle and red cells in the 2 patients with multisystem involvement. Patients with pure myopathy had greater increases in lactate with ischemic exercise (2–3 mmol/L) vs the 2 multisystem-affected patients (<1 mmol/L). Myopathy patients had higher oxidative capacity in cycle exercise vs multisystem affected patients (≈30 vs ≈15 mL/kg per minute). One multisystem-affected patient developed frank myoglobinuria after the short exercise test.ConclusionsThis case series study of PGK1 deficiency suggests that the level of impaired glycolysis in PGK deficiency is a major determinant of phenotype. Lower glycolytic capacity in PGK1 deficiency seems to result in multisystem involvement and increased susceptibility to exertional rhabdomyolysis.

Coeliac crisis mimicking nephrotic syndrome in a post-partum patient

2019 ◽  
Vol 64 (3) ◽  
pp. 116-118
Author(s):  
Özant Helvacı ◽  
Seyma Yıldız ◽  
Berfu Korucu ◽  
Ulver Derici ◽  
Turgay Arinsoy
Keyword(s):  
Nephrotic Syndrome ◽  
Coeliac Disease ◽  
Post Partum ◽  
Lower Extremity Weakness ◽  
Case Presentation ◽  
Multisystem Involvement ◽  
Life Threatening ◽  
History Of ◽  
Rare Occasion

Background Coeliac crisis is a life-threatening presentation of coeliac disease. Severe diarrhoea, weight loss, electrolyte imbalances and malnutrition are prominent features. Although mainly a disease of childhood, it can on the rare occasion be diagnosed in adults. Case presentation A 25-year-old female with severe generalised oedema, lower extremity weakness, hypokalemia and profound hypoalbuminemia was referred with an initial diagnosis of nephrotic syndrome. Three months previously she had given birth to a healthy child following an uneventful pregnancy. She did not have proteinuria. She had a history of diarrhoea with gluten-containing food since childhood but lacked a formal diagnosis of coeliac disease. A duodenal biopsy confirmed the suspected diagnosis. Coeliac crisis was diagnosed with life-threatening multisystem involvement. Introduction of a gluten-free diet abolished all disease symptoms and ameliorated laboratory parameters at six months’ follow-up. Conclusion Coeliac crisis is a rare, yet dangerous presentation of coeliac disease in adults. As this case suggests, it can present with generalised oedema and hypoalbuminemia mimicking nephrotic syndrome. Rapid diagnosis is the key to successful treatment.

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