منابع مشابه
Marfan Syndrome in an Iranian Family: A Case Series
Marfan syndrome (MFS) is a genetic disorder which is inherited by autosomal dominant traits. In MFS, lens displacement and cardiovascular involvement are important causes of morbidity and mortality in the clinical course of the disease. In this case study, the ocular involvement in a family with severe penetration of MFS is reported. Twelve members of a family (father, two daughters, three sons...
متن کاملBernard-Soulier syndrome or idiopathic thrombocytopenic purpura: A case series
Background: Bernard-Soulier syndrome (BSS) is a rare, autosomal recessive platelet function disorder which is commonly mistaken for idiopathic thrombocytopenic purpura (ITP).The report includes seven cases of BSS that have been diagnosed and treated as ITP for a long time. Methods: Between 2006 and 2016, data of seven BSS patients who have long been diagnosed and treated as ITP were collected ...
متن کاملGoldmann-Favre Syndrome: Case Series
Goldmann-Favre syndrome, which is caused by mutation of the NR2E3 gene, is a retinal degenerative disease with a wide spectrum of phenotypic properties. Variations in clinical presentation result in difficulties in differential diagnosis. In this article, Goldmann-Favre syndrome cases with different clinical findings are presented. Clinical characteristics of our cases were reviewed and discuss...
متن کاملCharles Bonnet Syndrome: Case series
Since its first description in 1760, Charles Bonnet syndrome (CBS) has been reported in many studies. The main characteristics are visual hallucinations, preserved awareness of unreal visions, and absence of psychotic symptoms. CBS can occur with lesions located anywhere along the central visual pathway, from the eye to the calcarine fissure. Objective To describe patients with CBS and carry ...
متن کاملStiff-Person Syndrome: Case Series
Stiff-person syndrome (SPS) is a rare disorder, characterized by progressive fluctuating muscular rigidity and spasms. Glutamic acid decarboxylase (GAD) antibody is primarily involved in the pathogenesis of SPS and SPS is strongly associated with other autoimmune disease. Here we report three cases of patients with classical SPS finally confirmed by high serum level of GAD antibodies. All of ou...
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ژورنال
عنوان ژورنال: Revista Portuguesa de Pneumologia (English Edition)
سال: 2012
ISSN: 2173-5115
DOI: 10.1016/j.rppnen.2012.01.005