how to cite this article: mansouri nejad se, yazdan panah mj, tayyebi meibodi n, ashrafzadeh f, akhondian j, beiraghi toosi m, eslamieh h. griscelli syndrome: a case report. iran j child neurol. 2014 autumn;8(4): 72-75. objective griscelli syndrome (gs) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmon...

COVID-19 is a highly contagious disease caused by Severe Acute Respiratory Syndrome CoronaVirus-2 (SARS-CoV-2); which novel single-stranded positive RNA infection consist of cytokines that activate the pathogenic systems cause high respiratory pain condition, and adversely affect on multiple body organ in humans as per their immunity standards to fight against virus. SARS-CoV-2 enters host cell...

Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder manifested by telangiectases of the skin and mucous membranes and arteriovenous malformations of various organ systems. We present a case of Osler-Weber-Rendu syndrome with 11 affected members in her family.

Virus-associated hemophagocytic syndrome is a fulminant disorder associated with systemic viral infection and characterized pathologically by multiple-organ infiltration of hemophagocytic histiocytes into the lymphoreticular tissues. This is the first report of a previously healthy adult in whom Human herpesvirus 6 reactivation induced this syndrome with severe hemodynamic and respiratory distr...

background : guillain-barre syndrome is an unusual complication of hematopoietic stem cell transplantation but it is extremely rare after solid organ transplantation such as kidney or liver transplantation case report : a 48-year-old man, a case of kidney transplantation presented with generalized weakness in an ascending pattern. history and examination were compatible with the diagnosis of gu...

Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, p...

Hennekam syndrome is a rare autosomal recessive disorder resulting from malformation of the lymphatic system. The characteristic signs of Hennekam syndrome are lymphangiectasia, lymph edema, facial anomalies, and mental retardation. This is a case in which a patient presented with left-arm lymphedema, facial-feature anomalies, and multiple organ lymphangiectasia consistent with symptoms of Henn...

Antiphospholipid syndrome is a disorder presenting with arterial or venous thrombus and a history of fetal loss. Early diagnosis and adequate treatment is important to prevent multiple organ failures. Here, we described a woman with a two-year history of systemic lupus erythematosus with severe nephrotic syndrome, manifested multiple thrombi over the portal vein and the inferior vena cava, comb...

Idiopathic hypereosinophilic syndrome (IHES) is a disorder characterized by increased eosinophil count (eosinophilia) along with organ dysfunction secondary to organ infiltration of eosinophils and release of inflammatory markers [1-4], with no obvious cause for eosinophilia. The onset of symptoms is insidious in most of the cases and eosinophilia is detected incidentally. However, in others, t...

Rett syndrome is a neurodevelopmental disorder that results from mutations in the genes encoding methyl-cytosine-guanosine binding protein 2 located on the X chromosome. Clinical features of central nervous system involvement include regression of developmental milestones in the late infant and early toddler stages, mental retardation, seizures and other electroencephalographic abnormalities. G...