Niemann Pick type A is a very rare hereditary disease with an incidence 1 in 20000-40000 live birth, which is calassified as a shingolipidoses. The disease is marked by the abnormal accumulation of sphingomyelin in most tissues, secondary to sphingomylinase deficiency. The most clinical manifestations are: Splenohepatomegaly–cherry red maculae-neuropathologic findings . This is a ...

Mucopolysaccharidosis type maroteaux-lamy is a very rare hereditary disease. The disease is marked by the deficiency of the lysosomal enzyme N-Acetyl galactosamine-a-4-sulfate sulfatase (arylsulfatase B). It is inherited as an autosomal recessive trait. The most clinical manifestations are: corneal clouding, organomegaly, hernias, coarse facial features, cardiac insufficiency and skeletal abn...

Familial Mediterranean fever (FMF) is a hereditary condition which is characterized by recurrent episodes of fever and abdominal pain. On the other hand, Behcet`s disease (BD) is an immune mediated condition typified by recurrent oral aphthous lesions, inflammatory eye disease and multiple organ involvement. Association of these two conditions is rare. We present a pair of twins with FMF and B...

Abstract Background & Aim: Nontraumatic subarachnoid hemorrhage is a neurologic emergency, which has a high rate of death and complications and its risk factors are preventable to some extent. Aim of this study is to investigate: risk factors, epidemiology, manifestations of disease and distinction between NSH and traumatic subarachniod hemorrhage. Materials & Methods: This study is a desc...

  Background and Objectives : Early and on time diagnosis of lower gastrointestinal bleeding is essential due to different treatable etiologies and prevention of complications. The aim of this study was to detect the etiologies of LGI bleeding in children referred to Kerman Hospital of Afzalipour.   Material and Methods : This descriptive-prospective study was performed on 138 children with pai...