جستجوی مقالات مرتبط با کلیدواژه "macrothrombocytopenia" در نشریات گروه "پزشکی"

Fechtner syndrome is an autosomal dominant syndrome which is defined by cataract, sensory neural hearing loss, kidney involvement, macrothrombocytopenia and neutrophilic inclusion bodies. We report a 21-year-old man with a history of idiopathic thrombocytopenic purpura, cataract and hearing loss who was admitted for work up renal failure. His blood smear showed macrothrombocytopenia with neutrophilic inclusion bodies. His family history revealed the same organ involvement in his brother and sister who both died due to active bleeding. During family work up, his father’s blood smear showed macrothrombocytopenia and neutrophilic inclusion bodies without kidney involvement. Due to patient’s organ involvement and pattern of inheritance, our diagnosis was compatible with Fechtner syndrome. To the best our knowledge, there is no reported case of Fechtner syndrome in Iran. Since the hematologic abnormalities of our case were erroneously diagnosed as idiopathic thrombocytopenic purpura and the patient received unnecessary treatments(splenectomy), the familiarity with this syndrome will help in better understanding and management of these cases.