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Slovenska pediatrija 2013; 20: 12-19

https://doi.org/

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Case report

SHWACHMAN DIAMOND SYNDROME − TWO CASE REPORTS

M. Bratkovič
Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana

V. Rajić
Klinični oddelek za otroško hematologijo in onkologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

M. Homan
Klinični oddelek za gastroenterologijo, hepatologijo in nutricionistiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Abstract

Shwachman Diamond syndrome is a rare autosomal recessive disorder characterized by exocrine pancreatic insufciency, bone marrow dysfunction, predisposition to myelodysplastic syndrome and haematological malignancies and skeletal abnormalities. Additional organs can be affected, such as the liver, teeth, heart and skin. Children may have learning difculties and impaired psychological development. The two children with Shwachman Diamond syndrome currently being treated in Slovenia are described in this article.

Key words: Shwachman Diamond syndrome, exocrine pancreatic insufciency, neutropenia, myelody-splastic syndrome.