Differential Diagnosis for Chediak-Higashi Syndrome

Single Most Likely Diagnosis

• Hermansky-Pudlak Syndrome: This is due to the similarity in symptoms such as albinism, bleeding tendency, and susceptibility to infections, which can sometimes make it difficult to distinguish from Chediak-Higashi Syndrome without specific diagnostic tests.

Other Likely Diagnoses

• Griscelli Syndrome: Characterized by albinism and immune deficiency, which can present similarly to Chediak-Higashi Syndrome, especially in terms of pigmentary dilution and immune dysfunction.
• Wiskott-Aldrich Syndrome: Although primarily known for its effects on males, it can present with eczema, thrombocytopenia, and recurrent infections, overlapping with some of the immune-related symptoms of Chediak-Higashi Syndrome.

Do Not Miss Diagnoses

• Leukocyte Adhesion Deficiency (LAD): A condition that affects the body's ability to fight infection, which, like Chediak-Higashi Syndrome, can lead to severe and recurrent infections. Missing this diagnosis could lead to inadequate treatment and poor outcomes.
• Severe Combined Immunodeficiency (SCID): Given the immune deficiency component of Chediak-Higashi Syndrome, SCID is a critical diagnosis not to miss, as it requires prompt and specific treatment to prevent severe infections and death.

Rare Diagnoses

• Elejalde Syndrome: A rare condition with some similarities to Chediak-Higashi Syndrome, including silvery hair and immunodeficiency, but it is much rarer and has distinct features.
• Cross Syndrome: Also known as "Cross-McKusick-Breen syndrome," it is a rare condition with albinism, immunodeficiency, and other systemic manifestations that could be considered in the differential diagnosis of Chediak-Higashi Syndrome due to overlapping symptoms.