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Chediak-Higashi syndrome presenting in accelerated phase.
Tanzeel Imran1, Lubna Zafar, Madeeha Rehan
1Department of Haematology, Fauji Foundation Hospital, Jehlum Road, Rawalpindi. dr_tanzeel@yahoo.co.uk
Summary
Chediak-Higashi syndrome (CHS) is a rare genetic disorder causing enlarged lysosomes. This case highlights CHS in an accelerated phase, diagnosed in a 2-year-old boy through clinical and morphological findings.
Area of Science:
- Genetics
- Hematology
- Immunology
Background:
- Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder.
- It is characterized by recurrent infections, partial albinism, and neurological deficits.
- Key pathological features include giant lysosomes in various cells, particularly leukocytes.
Observation:
- A 2-year-old boy presented with prolonged high-grade fever, cervical lymphadenopathy, and hepatosplenomegaly.
- Clinical symptoms included abdominal distention lasting 28 days.
- The patient's condition indicated an accelerated phase of the disease.
Findings:
- Diagnosis of CHS in accelerated phase was confirmed.
- Diagnosis was based on clinical presentation, peripheral blood film morphology, and bone marrow aspirate findings.
- Morphological analysis revealed characteristic huge lysosomes and cytoplasmic inclusions.
Implications:
- This case underscores the importance of recognizing CHS, especially in its accelerated phase.
- Early diagnosis is crucial for managing recurrent infections and potential complications.
- Understanding the morphological hallmarks aids in timely diagnosis and patient management.
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