Summary- Pearson's syndrome is a very rare cause of transfusion dependent anemia in infants with presence of pancreatic exocrine deficiency and other systemic abnormalities. We present a case of Pearson syndrome in an infant with primary hematological manifestations and a novel mitochondrial deletion.
Introduction- Pearson syndrome is a very rare cause of refractory transfusion dependent childhood anemia caused by mitochondrial DNA defects resulting in refractory sideroblastic anaemia, vacuolization of bone marrow precursors, exocrine pancreatic dysfunction and other metabolic defects
Material and Methods- A 6 month old infant presented with complaints of progressive pallor since one month, failure to thrive and fast breathing for 2 days. On examination he had severe anaemia with signs of congestive cardiac failure and hepatomegaly.
Results- Peripheral smear findings revealed macrocytic anaemia with mild thrombocytopenia. Bone marrow aspirate revealed a cellular marrow with mild erythroid hyperplasia and characteristic cytoplasmic vacuolations in myeloid and occasional erythroid precursors. There were about 30% ring sideroblasts observed on perl's stain. In view of suspicion of Pearson's syndrome, baby was further investigated which revealed high serum lactate levels (35mg/dl). However, fecal fat excretion was normal. Mitochondrial DNA analysis revealed a point mutation in NADH dehydrogenase 3 (ND3 region) of mt DNA as opposed to large mtDNA deletions observed in previously reported cases of Pearson's syndrome.
Discussion- Sideroblastic anemia presenting in infancy is an uncommon cause of anemia often requiring multiple transfusions. Pearson's syndrome is a rare cause of sideroblastic anaemia, it presents in infancy, carrying a grave prognosis and requires high index of suspicion. Clinical picture is highly variable due to Mitochondrial DNA heteroplasmia. Mitochondrial DNA deletion/duplication studies carry a confirmative value. Pyridoxine was not very effective and child required repeated transfusions. This case is presented for its rarity, hematological features and associated novel mitochondrial mutation.
No relevant conflicts of interest to declare.
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