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[Shwachman-Diamond syndrome: a case report].
Mohamed Kaabar1, Pierre Lemaire1, Vincent Cussac1
1Laboratoire d'hématologie, Centre hospitalier Le Mans, Le Mans, France.
Annales De Biologie Clinique
|August 7, 2018
Summary
Shwachman-Diamond syndrome is a rare genetic disorder causing pancreatic dysfunction and neutropenia. This case report details the diagnosis and management of a 23-year-old woman with this condition.
Area of Science:
- Genetics
- Hematology
- Gastroenterology
Background:
- Shwachman-Diamond syndrome (SDS) is a rare constitutional disorder.
- It is characterized by exocrine pancreatic failure and neutropenia with dysgranulopoiesis.
Observation:
- This report presents a case of a 23-year-old woman diagnosed with Shwachman-Diamond syndrome.
- The patient exhibited typical clinical features of the syndrome.
Findings:
- The case highlights the diagnostic challenges and steps involved in identifying SDS.
- It also describes the disease's progression and management strategies.
Implications:
- This case contributes to the understanding of Shwachman-Diamond syndrome in adults.
- It emphasizes the importance of multidisciplinary management in rare diseases.
- The report aids in clinical practice and laboratory medicine for SDS patients.
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