Pearson Syndrome Questions & Answers

Updated: Feb 01, 2019
  • Author: Zora R Rogers, MD; Chief Editor: Hassan M Yaish, MD  more...
  • Print
Questions & Answers

Overview

What is Pearson syndrome?

What is the pathophysiology of Pearson syndrome?

What are the defining pathophysiological features of Pearson syndrome?

What is prevalence of Pearson syndrome?

What causes death in Pearson syndrome?

What are the racial predilections of Pearson syndrome?

What are the sexual predilections of Pearson syndrome?

What is the presentation of Pearson syndrome in neonates?

What is the progression of Pearson syndrome in infancy and early childhood?

How does the phenotype of Pearson syndrome shift in patients who survive past early childhood?

Presentation

Which clinical history findings are characteristic of Pearson syndrome?

Which physical findings are characteristic of Pearson syndrome?

What causes Pearson syndrome?

DDX

How is Pearson syndrome differentiated from Shwachman-Diamond syndrome?

How is Pearson syndrome differentiated from Fanconi anemia?

How is Pearson syndrome differentiated from Diamond-Blackfan anemia?

How is Pearson syndrome differentiated from myelodysplastic syndrome (MDS)?

How is Pearson syndrome differentiated from DiGeorge and velocardiofacial syndrome?

How is Pearson syndrome differentiated from hereditary sideroblastic anemia?

How is Pearson syndrome differentiated from copper deficiency?

What are the differential diagnoses for Pearson Syndrome?

Workup

What is the role of blood tests in the workup of Pearson syndrome?

How is pancreatic exocrine dysfunction assessed in the workup of Pearson syndrome?

What is the role of serum lactic acid measurement in the workup of Pearson syndrome?

What is the role of urinalysis in the workup of Pearson syndrome?

How is hepatic involvement assessed in the workup of Pearson syndrome?

What is the role of endocrinology studies in the workup of Pearson syndrome?

What is the role of genetic analysis in the workup of Pearson syndrome?

What is the role of imaging studies in the workup of Pearson syndrome?

What is Pearson syndrome?

Which histologic findings are characteristic of Pearson syndrome?

Treatment

How is Pearson syndrome treated?

What is the role of surgery in the treatment of Pearson syndrome?

What is Pearson syndrome?

Which dietary modifications are used in the treatment of Pearson syndrome?

Which activity modifications are used in the treatment of Pearson syndrome?

Medications

Which medications are used in the treatment of Pearson syndrome?