A 25-year-old man has recurrent pyogenic infections with Staphylococcus, Streptococcus, and Klebsiella since infancy, along with partial albinism and peripheral neuropathy. Peripheral blood neutrophils show giant cytoplasmic granules. The condition is:

• A Chronic granulomatous disease (CGD)
• B Leukocyte adhesion deficiency (LAD) type I
• C Chédiak-Higashi syndrome ✓
• D Myeloperoxidase deficiency

Explanation

Chédiak-Higashi syndrome is an autosomal recessive disorder caused by mutations in the LYST/CHS1 gene encoding a lysosomal trafficking regulator. The defect impairs membrane fusion of lysosomes, causing them to enlarge into giant granules visible in all granular cells — neutrophils, melanocytes (causing partial albinism, oculocutaneous albinism), platelets (causing bleeding tendency), and neurons (causing peripheral neuropathy). Neutrophil killing is impaired due to failure of lysosome-phagosome fusion. CGD presents with catalase-positive organism infections and granulomas; LAD presents with delayed umbilical cord separation and CD18 deficiency; MPO deficiency is usually clinically silent.

Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.