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Publikováno v:
Oxford Medical Case Reports
Laron syndrome (LS) is a rare autosomal recessive disorder characterized by dwarfism and typical facial phenotype. This report is the first to present three cases of Laron syndrome affecting three female siblings from Syria. The index case presented
Publikováno v:
Oxford Medical Case Reports
Tularemia is a disease caused by Francisella tularensis—gram-negative coccobacillus. The ulceroglandular type characterized by skin ulcers and painful regional adenopathy is recognized as the most common. A 1-year-old patient was admitted with seve
Publikováno v:
Oxford Medical Case Reports
Langerhans cell histiocytosis (LCH) is a rare disease of unknown etiology that affects several organs. The fatal type of Langerhans cell histiocytosis is called Letterer Siwe disease (LSD) which is multisystem with a poor prognosis. Herein, we report
Publikováno v:
Oxford Medical Case Reports
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is one of the leading causes of sudden cardiac death amongst young people and athletes. In this genetic disease, arrhythmia and fibro-fatty changes in the right ventricular myocardium are the mai
An unusual case of chronic abdominal pain: an association between Celiac disease and Crohn’s disease
Autor:
Noura Karkamaz, Fareeda Wasfy Bijow, Leen Jamel Doya, Maria Naamah, Ali Ibrahim, Narmin Hajo, Rana Issa
Publikováno v:
Oxford Medical Case Reports
Inflammatory bowel diseases (IBD) and Celiac disease (CeD) are immune-mediated gastrointestinal diseases with incompletely understood etiology. Both diseases show a multifactorial origin with a complex interplay between genetic, environmental factors
Publikováno v:
Oxford Medical Case Reports
Gorham-Stout disease (GSD) is a rare entity that destroys the bone matrix resulting mainly in osteolysis, pain and pathologic fractures among a broader clinical picture. We report a case of a 60-year-old female with a sudden discovery of pathologic f
Publikováno v:
Oxford Medical Case Reports
We describe a patient who presented to hospital during the coronavirus disease 2019 (COVID-19) pandemic with sporadic Creutzfeldt–Jakob disease (sCJD). The case demonstrates the typical clinical, radiological and laboratory features of this conditi
Publikováno v:
Oxford Medical Case Reports
Juvenile idiopathic arthritis (JIA) is chronic arthritis in children and adolescents. It is clinically diagnosed, which includes children under the age of 16 with arthritis for at least six weeks. Cases younger than six months of age are extremely ra
Publikováno v:
Oxford Medical Case Reports
Atypical hemolytic uremic syndrome (aHUS) is a rare, progressive, life-threating disease that frequently has a genetic component; it is usually caused by familial, sporadic or idiopathic reasons. We report a case of aHUS in a 21-month-old girl with c
Publikováno v:
Oxford Medical Case Reports
Ollier disease is a rare nonhereditary skeletal disorder, characterized by multiple enchondromas, which are noncancerous growth of cartilage. In this report, we present a case of Ollier disease in a 10-year-old Syrian boy. The patient presented with