scholarly journals Unusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature

2021 ◽  
Vol 9 (9) ◽  
Author(s):  
Renata Yakubov ◽  
Asaly Ayman ◽  
Adi Klein Kremer ◽  
An Bael ◽  
Machiel van den Akker
Keyword(s):  
Case Report ◽  
Unusual Presentation ◽  
Homozygous Mutation ◽  
Review Of The Literature

Neuropsychiatric Derangement by Polycythemia Vera: A Case Report of an Unexpected Disease Presentation and Review of the Literature

2021 ◽  
pp. 1-6
Author(s):  
Heleen De Lil ◽  
Michelle van Beek ◽  
Alexandra Herbers ◽  
Ellen van der Holst ◽  
Karen Keijsers
Keyword(s):  
Case Report ◽  
Chronic Disease ◽  
Cerebral Infarction ◽  
Polycythemia Vera ◽  
Neuropsychiatric Symptoms ◽  
Unusual Presentation ◽  
Review Of The Literature ◽  
Remarkable Recovery ◽  
Visual Complaints ◽  
Underlying Pathophysiology

Cerebral infarction as well as other thromboses, headaches, and visual complaints are well-known symptoms of polycythemia vera. However, chorea and neuropsychiatric disturbances are less recognized consequences of this chronic disease. Whereas chorea is a rare but acknowledged symptom of polycythemia vera, neuropsychiatric symptoms have only sporadically been reported. We depict 2 patients with an unusual presentation of polycythemia vera. Our first patient presented with right-sided hemiballism and psychosis, and the second patient had a long diagnostic trajectory of unexplained chorea. In both cases diagnosis of JAK2 positive polycythemia vera was established, and in both cases remarkable recovery occurred after the initiation of phlebotomies. The underlying pathophysiology of these symptoms has not been clearly elucidated. Because of the unfamiliarity of the link between especially neuropsychiatric symptoms and polycythemia, current reported numbers are probably an underestimation. Benefit of treatment appears to be large. We seek to create more awareness among physicians about this phenomenon.

Retropharyngeal abscess: An unusual presentation of Kawasaki disease. Case report and review of the literature

2012 ◽  
Vol 7 (4) ◽  
pp. 179-182 ◽  
Author(s):  
Maria Elena Cavicchiolo ◽  
Paola Berlese ◽  
Silvia Bressan ◽  
Elena Trincia ◽  
Ingrid Inches ◽  
...  
Keyword(s):  
Case Report ◽  
Kawasaki Disease ◽  
Unusual Presentation ◽  
Retropharyngeal Abscess ◽  
Review Of The Literature ◽  
Disease Case

Aortitis and Spondyloarthritis—An Unusual Presentation: Case Report and Review of the Literature

2010 ◽  
Vol 39 (6) ◽  
pp. 510-514 ◽  
Author(s):  
Lihi Eder ◽  
Mouhannad Sadek ◽  
Heather McDonald-Blumer ◽  
Dafna D. Gladman
Keyword(s):  
Case Report ◽  
Unusual Presentation ◽  
Review Of The Literature

An unusual presentation of metastatic gastric cancer found during inguinal hernia repair: case report and review of the literature

Hernia ◽  
2002 ◽  
Vol 6 (2) ◽  
pp. 88-90 ◽  
Author(s):  
Tahir M. Oruç ◽  
Bahadir Kulah ◽  
Baris Saylam ◽  
Munevver Moran ◽  
Levent Albayrak ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Case Report ◽  
Inguinal Hernia ◽  
Hernia Repair ◽  
Inguinal Hernia Repair ◽  
Metastatic Gastric Cancer ◽  
Unusual Presentation ◽  
Review Of The Literature

Unusual Presentation of Metastatic Hepatocellular Carcinoma in an HIV/HCV Coinfected Patient: Case Report and Review of the Literature

2008 ◽  
Vol 94 (4) ◽  
pp. 589-591 ◽  
Author(s):  
Massimiliano Berretta ◽  
Ernesto Zanet ◽  
Fabrizio Di Benedetto ◽  
Cecilia Simonelli ◽  
Alessandra Bearz ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Case Report ◽  
Unusual Presentation ◽  
Review Of The Literature ◽  
Patient Case ◽  
Metastatic Hepatocellular Carcinoma ◽  
Coinfected Patient

scholarly journals Hughes-Stovin syndrome without venous involvement – Unusual presentation of a rare disease: Case report and review of the literature

2020 ◽  
Vol 42 (2) ◽  
pp. 159-163
Author(s):  
Fatma Hamdy ◽  
Samar Tharwat ◽  
Heba W. Abdelwahab ◽  
Hamed Okasha ◽  
Ehab E. Eltoraby
Keyword(s):  
Case Report ◽  
Rare Disease ◽  
Unusual Presentation ◽  
Review Of The Literature ◽  
Venous Involvement ◽  
Disease Case
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