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Pearson syndrome — RACP Paediatrics MCQ

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HardGeneticsPearson syndromeRACP Paediatrics

A 6-month-old has refractory sideroblastic anaemia, exocrine pancreatic insufficiency, and lactic acidosis. Bone marrow shows vacuolated precursors with ringed sideroblasts. The disorder is caused by a large mitochondrial DNA deletion. What is the most likely diagnosis?

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Correct answer: E — Pearson syndrome

Pearson syndrome is a mitochondrial DNA deletion disorder presenting in infancy with sideroblastic anaemia, exocrine pancreatic insufficiency, and lactic acidosis. Ringed sideroblasts and vacuolated bone marrow precursors are characteristic. Survivors may evolve into Kearns-Sayre syndrome. It is caused by large-scale single mitochondrial DNA deletions.

Reference: RACP Paediatric Curriculum – Metabolic/Genetics; RCH Melbourne – 2023