A case of Pearson syndrome associated with multiple renal cysts.
A 41-day-old infant who had severe metabolic acidosis, anemia, bleeding, hypoglycemia, and proximal tubulopathy was diagnosed with Pearson syndrome. Fibrosis in the liver, severe iron deposition in hepatocytes, and multiple renal cortical cysts were found on postmortem examination. Southern blot analysis of mitochondrial DNA obtained from peripheral blood revealed a heteroplasmic deletion of approximately 3.5 kilobases.
Gürgey
A
A
Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Ozalp
I
I
Rötig
A
A
Coşkun
T
T
Tekinalp
G
G
Erdem
G
G
Akeören
Z
Z
Caglar
M
M
Bakkaloglu
A
A
D004272:DNA, Mitochondrial / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D008928:Mitochondria / Q000378:metabolism*; D010182:Pancreatic Diseases / Q000150:complications*; D007690:Polycystic Kidney Diseases / Q000209:etiology*; D013577:Syndrome
D004272:DNA, Mitochondrial