Chediak-Higashi syndrome in accelerated phase masquerading as severe acute malnutrition

Area of Science:

• Pediatrics
• Genetics
• Hematology

Background:

• Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder.
• It is characterized by mutations in the LYST gene, leading to impaired lysosomal trafficking.
• Clinical manifestations include partial oculocutaneous albinism, recurrent infections, and progressive neurological dysfunction.

Purpose of the Study:

• To report a case of Chediak-Higashi syndrome (CHS) in a toddler presenting with severe acute malnutrition.
• To highlight the diagnostic challenges and clinical features of CHS.
• To emphasize the association of CHS with hemophagocytic lymphohistiocytosis (HLH).

Main Methods:

• Clinical presentation and anthropometric measurements.
• Laboratory investigations including peripheral blood smear and bone marrow aspirate.
• Hair microscopy for melanin granule assessment.

Main Results:

• The patient presented with poor appetite, weight loss, recurrent infections, pallor, and edema, indicative of severe acute malnutrition.
• Physical examination revealed hypopigmented hair and skin, splenohepatomegaly, pancytopenia, and hypoalbuminemia.
• Microscopic examination of hair and bone marrow revealed characteristic large intracytoplasmic granules, confirming the diagnosis of CHS.
• Coexistent hemophagocytic lymphohistiocytosis (HLH) was identified, indicating CHS in the accelerated phase.

Conclusions:

• This case underscores the importance of considering CHS in children with unexplained hypopigmentation, recurrent infections, and cytopenias, even in the presence of severe malnutrition.
• Early diagnosis and prompt initiation of treatment, including hematopoietic stem cell transplantation, are crucial for improving outcomes in CHS.
• The accelerated phase of CHS, often associated with HLH, carries a poor prognosis if left untreated.