๐Ÿงฌ Chapter 498 ยท Pearson Syndrome

Nelson Textbook of Pediatrics 22nd Edition | Pearson syndrome: mitochondrial DNA deletion, sideroblastic macrocytic anemia, vacuolated erythroblasts/myeloblasts, exocrine pancreatic insufficiency, lactic acidosis, failure to thrive, progression to Kearns-Sayre syndrome.

๐ŸŒ paeds.online โ€” Pakistan's Pediatric Platform

๐Ÿ“‹ 30 Clinical Scenarios โ€” Pearson Syndrome (Mitochondrial DNA Deletion)

๐Ÿ“‡ Highโ€‘Yield Review Cards (Pearson Syndrome)

๐Ÿฉบ Clinical Recognition: Suspected Pearson Syndrome

Select a presentation for diagnostic clues and differentiation from DBA or TEC.

๐Ÿ“‹ Stepwise Management of Pearson Syndrome

๐Ÿ”‘ Key Diagnostic Features โ€” Nelson Ch 498
โ€ข Sideroblastic macrocytic anemia (neonatal/infantile onset)
โ€ข Bone marrow: vacuolated erythroblasts and myeloblasts + ringed sideroblasts
โ€ข Multisystem: exocrine pancreatic insufficiency, hepatic/renal tubular defects, failure to thrive
โ€ข mtDNA large heteroplasmic deletion (common ~4.9 kb)
โ€ข Survivors evolve to Kearns-Sayre syndrome (ophthalmoplegia, pigmentary retinitis, heart block)

    โšก Reflex Prompts โ€” Clinical Decisions in Pearson Syndrome

    ๐Ÿ“– Summary: Pearson Syndrome โ€” Nelson Ch 498