autoimmune lymphoproliferative syndrome (alps) is a prototypic disorder of abnormal lymphocyte homeostasis. in the september 2005 issue of the iranian journal of allergy, asthma and immunology, a patient with clinical features consistent with alps was described. although the clinical presentation was in favor of alps, a precise diagnosis needed more laboratory evaluations.

background: 49, xxxxy syndrome is a rare sex chromosomal disorder, occurring in 1 per 85,000-100,000 male births. the classical phenotype is ambiguous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. case: a two month-old boy with intrauterine growth restriction (iugr) and low birth weight, facial dysmorphism, clinodactyly in feet...

neurocutaneous melanosis (ncm) is a rare, congenital non-hereditary syndrome, characterized by multiple pigmented nevi. we report the radiologic findings of a newborn who had extensive cutaneous melanotic nevus with satellite lesions in the brain. ultrasound showed multiple echogenic foci in the cerebral parenchyma. subsequent mri confirmed these lesions as characteristic deposits of melanin. t...

conclusions the most important factor in diagnosis is physician’s attention and clinical experience with this condition and using irlssg. results two major theories are developed regarding the pathophysiology of rls. the first one concerns central nervous system dopamine imbalance and the second one concerns intracellular iron dysregulation. the most common used pharmacologic agents in treatmen...

Boerhaave syndrome (BS) is a spontaneous esophageal perforation and is a life-threating but uncommon disorder. This syndrome involves a transmural perforation and typically occurs after forceful emesis. The prognosis is dependent on rapid diagnosis and correct management. The classic presentation of BS consists of vomiting, subcutaneous emphysema, and lower thoracic pain. However, significant s...

objectives:the aim of this single case study is to describe a child with landau kleffner syndrome who misdiagnosed as a child with autism spectrum disorder. we also explore occupational therapy`s role in correct process for diagnosis and treatment. methods:three times measurement with autism treatment evaluation checklist was performed to measure severity of symptoms and compare treatment outco...