Pearson’s Marrow-Pancreas Syndrome in 2 Turkish Children

Abstract

Two unrelated infants, 1 female and 1 male, with Pearson’s syndrome are presented. Both patients presented with severe macrocytic refractory anemia starting early in infancy. Investigation of the mitochondrial (mt), DNA showed that one of the patients had a 4,977 bp deletion, and the other had a 4.5 kb mtDNA deletion. It is concluded that Pearson’s syndrome should be borne in mind in the differential diagnosis of refractory anemia especially when there are accompanying gastrointestinal disturbances and metabolic acidosis.

A case of Pearson syndrome associated with multiple renal cysts

“…Widespread deletions of the mt DNA have been described as a consistent feature of the disease [1,2]. This syndrome is not rare in our country; reports of two Turkish patients with this disease have been published previously [3]. Our patient had a progressive Fig.…”

“…Renal cortical cyts, light microscopy, • disease, including severe metabolic acidosis with hyperlactatemia, bleeding, anemia, hepatic failure, hypoglycemia, and renal Fanconi syndrome. Progressive proximal tubular insufficiency, hepatic fibrosis, and hemosiderosis have been observed in many patients with Pearson syndrome [2][3][4]. However, renal cysts, which were a prominent finding in our patient on postmortem examination, have not been described previously.…”