Rare, maternally inherited mtDNA deletion syndrome. Deletion variable size, thus clinical picture variable.
Clinical features
- failure to thrive
- exocrine pancreas dysfunction
- liver & renal tubular defect
- malabsorption
- myopathy
- Endocrine dysfunction
- Type 1 DM
- adr insufficiency
- hypoparathyroid
- hypothyroid
Lab
- Macrocytic anemia
- ↑ HbF
- vacuolated erythroblasts and myeloblasts
- Ringed sideroblasts
- ∴ considered a unique variant of congenital sideroblastic anemia
Treatment
- Red cell transfusions
- Granulocyte colony stimulation factor, if severe neutropenia
- HSCT corrects both hematologic & mt abnormalities