Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis.

ARC syndrome is a rare autosomal recessive disease, characterized by arthrogryposis, renal tubular dysfunction and cholestasis. Herein a 2.5 month old infant with dysmorphic features, including small anterior fontanel, low set ears, beaked nose and high arched palate is presented who was referred because of icterus.

Clinical Features and Laboratory Findings of Visceral Leishmaniasis in Children Referred To Children Medical Center Hospital, Tehran, Iran during 2004-2011.

Background: Visceral leishmaniasis (VL) is one of the most important parasitic diseases endemic in northwestern and southern areas of Iran. The aim of the present study was to review the records of children hospitalized with VL in order to characterize the clinical features of children as well as laboratory finding in Children Medical Center Hospital, Tehran, Iran.

Methods: The medical records of all children with a final diagnosis of VL were reviewed from 2004 to 2011.