Shwachman-Diamond syndrome: A case report.

Area of Science:

• Genetics
• Pediatrics
• Rare Diseases

Background:

• Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder.
• Diagnosis is challenging due to diverse and often atypical clinical manifestations.

Purpose of the Study:

• To report a case of SDS diagnosed in a young girl with recurrent fever, elevated transaminases, and granulocytosis.
• To discuss the diagnostic and treatment strategies for SDS.
• To review relevant literature and enhance understanding of the disease.

Main Methods:

• A 15-month-old girl presented with recurrent fever, granulocytopenia, and elevated transaminases.
• Genetic sequencing identified compound heterozygous variants in the SDS gene.
• Treatment involved glycyrrhizin, granulocyte-colony stimulating factor, and antibiotics for infections.

Main Results:

• The patient was diagnosed with SDS based on genetic findings.
• Following treatment, liver function improved with decreased transaminase levels.
• The patient experienced fewer infections after 15 months, despite persistent neutropenia.

Conclusions:

• Atypical clinical presentations in SDS pose diagnostic challenges for clinicians.
• Genetic testing is crucial for accurate SDS diagnosis.
• This case underscores the importance of genetic analysis in diagnosing SDS, particularly in patients lacking classic symptoms like exocrine pancreatic insufficiency or skeletal abnormalities.