title: Molecular diagnosis of shwachman-diamond syndrome presenting with pancytopenia at an early age: the first report from Turkey.
abstract: A three-month-old boy presented with growth failure, skeletal abnormalities, otitis media and pancytopenia. Exocrine pancreatic insufficiency was confirmed by low levels of fecal elastase. He was diagnosed as Shwachman-Diamond syndrome by clinical and laboratory findings. The diagnosis was confirmed by sequence analysis for SBDS gene on chromosome seven revealing compound heterozygous mutation, which are c.258+2T-C and c.183-184TA-CT. Matched unrelated donor screening for hematopoietic stem cell transplantation was initiated. Unfortunately, he died of respiratory difficulty at 5 months of age. Our case is the youngest patient whose presumptive Shwachman-Diamond syndrome diagnosis was confirmed by molecular analysis.
authors.affiliation: Pediatric Hematology Division, Hacettepe Medical Faculty, Ihsan Dogramacı Children's Hospital, Sıhhıye, Ankara, 06100 Turkey.
authors.forename: Muge
authors.initials: M
authors.lastname: Gokce
authors.affiliation: Pediatric Hematology Division, Hacettepe Medical Faculty, Ihsan Dogramacı Children's Hospital, Sıhhıye, Ankara, 06100 Turkey.
authors.forename: Murat
authors.initials: M
authors.lastname: Tuncer
authors.affiliation: Pediatric Hematology Division, Hacettepe Medical Faculty, Ihsan Dogramacı Children's Hospital, Sıhhıye, Ankara, 06100 Turkey.
authors.forename: Mualla
authors.initials: M
authors.lastname: Cetin
authors.affiliation: Pediatric Hematology Division, Hacettepe Medical Faculty, Ihsan Dogramacı Children's Hospital, Sıhhıye, Ankara, 06100 Turkey.
authors.forename: Fatma
authors.initials: F
authors.lastname: Gumruk
keywords: Immune deficiency; Pancytopenia; Schwachman-Diamond Syndrome