[ case report of a rare Shwachman-Diamond syndrome with liver involvement]

Shwachman-Diamond syndrome [SDS] is a rare autosomal recessive disorder which presented with multiple organ involvement including exocrine pancreatic dysfunction and bone marrow failure. Liver involvement is less common sign and may be missed. In this study we report an infant with SDS and liver involvement. Case report: An 11 month old infant boy, with acute diarrhea, dehydration and disorders in weight gaining and fatty defection was referred to hospital when he was 4 months old. He was checked because of his big liver and increment of liver enzymes. Considering the fatty stool, osteopenia, patient's abnormal face, appearing neutropenia and being dropped the fibreosis cystic disease diagnosis, so Shwachman diamond syndrome was diagnosed Introducing this patient beside diagnosis this rare diseases which will be result in retardation of children growth, also recall the liver involvement sometimes results in initial manifestation of growth retardation

Triple-A syndrome [Allgrove syndrome] in Iranian children: report of 4 cases

Allgrove syndrome also known as triple-A syndrome is an autosomal recessive disorder characterized by alacremia, achalasia and ACTH-resistant adrenal insufficiency. Although this syndrome is rare, herein we report four cases with different clinical manifestations. They were referred to the gastrointestinal ward during a one year period with complaints of vomiting and dysphagia. The diagnosis of triple-A syndrome was confirmed after careful evaluations for vomiting