Clinical manifestations and management of four children with Pearson syndrome.
Pearson marrow-pancreas syndrome is a fatal disorder mostly diagnosed during infancy and caused by mutations of mitochondrial DNA. We hereby report on four children affected by Pearson syndrome with hematological disorders at onset. The disease was fatal to three of them and the fourth one, who received hematopoietic stem cell transplantation, died of secondary malignancy. In this latter patient transplantation corrected hematological and non-hematological issues like metabolic acidosis, and we therefore argue that it could be considered as a useful option in an early stage of the disease.
Pediatric Hematology and Oncology, University of Catania, Catania, Italy.
Manuela
M
Tumino
Concetta
C
Meli
Piero
P
Farruggia
Milena
M
La Spina
Maura
M
Faraci
Cinzia
C
Castana
Vincenzo
V
Di Raimondo
Marivana
M
Alfano
Annarita
A
Pittalà
Luca
L
Lo Nigro
Giovanna
G
Russo
Andrea
A
Di Cataldo
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency; D000756:Anemia, Sideroblastic / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D002423:Cause of Death; D002648:Child; D002675:Child, Preschool; D000080984:Congenital Bone Marrow Failure Syndromes; D004272:DNA, Mitochondrial / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D009135:Muscular Diseases
D004272:DNA, Mitochondrial; D044942:Acyl-CoA Dehydrogenase, Long-Chain