Novel Hermansky–Pudlak Syndrome Type I Variant in Hermansky–Pudlak Syndrome

REPORTpast 2 months, and fever for the last 2 days.He had a long-standing history of OCA since childhood.On general physical examination, his pulse rate was 134 beats/minute, blood pressure (BP) was 110/70 mm Hg, respiratory rate (RR) was 26 cycles/minute, and SPO 2 was 82% on room air.Respiratory system revealed bilateral fine rales.The rest of the systemic examination was within normal limits.Physical examination revealed decreased pigmentation of skin and hair.Ocular examination revealed the presence of nystagmus.Laboratory investigations showed: Hemoglobin (Hb)-15.2gm/dL, total leukocyte count (TLC)-7,320 cells, platelet count-2.95lakh, C-reactive protein (CRP)-78.34,and peripheral smear study showing macrocytic blood picture.