Prenatal manifestation of pancytopenia in Pearson Marrow-Pancreas Syndrome
A Giese, L Wronski, K Blümchen, R Kirschner-Schwabe, S Shalapour, K Hasse, C Eckert, M Schülke, G Henze, K Seeger · Klinische Pädiatrie · 2004 · Heft 05
Bibliografische Angaben
Zusammenfassung
Pearson marrow-pancreas syndrome is a fatal disease characterized by refractory sideroblastic anemia with vacuolization of marrow precursors, dysfunction of the exocrine pancreas and severe lactic acidosis, caused by mitochondrial DNA (mtDNA) deletions and duplications. We report on a male neonate in whom pancytopenia was already diagnosed prenatally by ultrasound (cerebral blood flow). He exhibited severe metabolic acidosis and anemia at birth and in the clinical course his condition progressively worsened with severe pancytopenia and metabolic acidosis resulting in death after 12 weeks. DNA was extracted from…
