PURPOSE: @entity6632 is a very rare @entity209 that is usually present in infancy with transfusion dependent @entity17443 and multiorgan involvement including exocrine @entity8 . The disease is secondary to a mitochondrial DNA deletion that is variable in size and location. @entity4903 can develop, but are usually not part of the initial presentation. We report two @entity1 who presented with unusual endocrine manifestations, @entity6 and @entity1887 , who were both later diagnosed with @entity6632 . METHODS: Medical records were reviewed. Confirmatory testing included: mitochondrial DNA deletion testing and sequencing of the breakpoints, muscle biopsy, and bone marrow studies. RESULTS: Case 1 presented with @entity4854 requiring insulin at birth. She had several episodes of @entity1270 triggered by stress and labile blood @entity413 control. Workup for genetic causes of @entity6 was negative. She had transfusion dependent @entity417 and died at 24 months due to @entity881 . Case 2 presented with @entity1887 and @entity417 during @entity221 , requiring @entity134 replacement since 37 months of age. He is currently 4 years old and has mild @entity417 . Mitochondrial DNA studies confirmed a 4.9 kb deletion in @entity1 1 and a 5.1 kb deletion in @entity1 2. CONCLUSION: The @entity1 reported highlight the importance of considering mitochondrial DNA disorders in @entity1 with @entity4903 , and expand the knowledge about this rare @entity2383 .

@entity6632 : unique endocrine manifestations including @entity6 and XXXX .

@entity17443 :: ('MESH:D000748', 'Disease') :: ['macrocytic anemia'] @entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity8 :: ('MESH:D007674', 'Disease') :: ['pancreas, liver and renal tubular defects'] @entity2383 :: ('MESH:D028361', 'Disease') :: ['mitochondrial disease'] @entity417 :: ('MESH:D000740', 'Disease') :: ['anemia'] @entity6 :: ('MESH:D003920', 'Disease') :: ['neonatal diabetes'] @entity221 :: ('MESH:D005334', 'Disease') :: ['inturcurrent illness'] @entity1887 :: ('MESH:D000309', 'Disease') :: ['adrenal insufficiency'] @entity134 :: ('CHEBI:35341', 'Chemical') :: ['steroid'] @entity1270 :: ('MESH:D007662', 'Disease') :: ['ketoacidosis'] @entity881 :: ('MESH:D009102', 'Disease') :: ['multisystem organ failure'] @entity209 :: ('MESH:D008659', 'Disease') :: ['metabolic disorder'] @entity4854 :: ('MESH:D006943', 'Disease') :: ['hyperglycemia'] @entity413 :: ('MESH:D005947', 'Chemical') :: ['glucose'] @entity4903 :: ('MESH:D004700', 'Disease') :: ['early onset endocrine dysfunction', 'Endocrine abnormalities'] @entity6632 :: ('MESH:C536353', 'Disease') :: ['Pearson syndrome']
@entity1887 :: (MESH:D000309,Disease) :: ['adrenal insufficiency']
