Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

Area of Science:

• Genetics
• Mitochondrial Biology
• Pediatric Hematology

Background:

• Pearson syndrome (PS) is a rare, severe mitochondrial disorder.
• It is characterized by single large-scale mitochondrial DNA deletions (SLSMDs).
• PS often presents as infantile hypogenerative anemia, mimicking other hematologic conditions.

Purpose of the Study:

• To highlight Pearson syndrome as a critical differential diagnosis in infantile anemia.
• To describe the diagnostic hallmarks and clinical progression of PS.
• To emphasize the urgent need for effective therapeutic strategies.

Main Methods:

• Review of clinical presentations and diagnostic criteria for Pearson syndrome.
• Analysis of bone marrow cytology findings, including vacuolization and ring-sideroblasts.
• Genetic confirmation through detection of SLSMDs.

Main Results:

• Anemia in infancy is the primary presenting symptom in most PS patients.
• Bone marrow examination reveals characteristic vacuolization and ring-sideroblasts.
• While anemia may spontaneously resolve, multisystem complications frequently arise.
• Progression to Kearns-Sayre syndrome can occur in some individuals.

Conclusions:

• Pearson syndrome requires consideration in cases of unexplained infantile anemia.
• Timely diagnosis via bone marrow cytology and genetic testing is essential.
• The lack of curative treatments necessitates the development of novel therapies for PS.