Pearson syndrome

Also known as: Pearson marrow-pancreas syndrome

Infantile mitochondrial disorder with sideroblastic anemia and pancreatic insufficiency.

Medical specialty: Neurology
Subspecialty: Hematology / Mitochondrial disease; Neurology overlap
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: None recorded

Etiology & mechanism

Single large-scale mtDNA deletion.

Gene(s) involved (0)

No gene recorded.

Symptoms & signs (5)

failure to thrivehepatic dysfunctionlactic acidosispancreatic insufficiencyrefractory sideroblastic anemia

Note

Primarily hematologic, not primarily neurologic; verify

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.