Early neurological impairment and severe anemia in a newborn with Pearson syndrome.
BACKGROUND
Pearson marrow-pancreas syndrome (PS) is usually a fatal mitochondrial disease, mostly diagnosed during infancy or postmortem. PS is caused by the deletions or duplications of mitochondrial DNA (mtDNA). The tissue distribution and relative proportions of expressed abnormal mtDNA determine the phenotype and the clinical course.


METHODS
We describe the case of a term baby boy who was diagnosed with PS early in the neonatal period due to severe aregenerative anemia and persistent lactic acidosis.


RESULTS
His neurological examination was abnormal since birth. Brain magnetic resonance imaging (MRI) at term was abnormal, indicating that mitochondrial encephalopathy in PS can be already manifested in the neonatal period. To our knowledge, neonatal encephalopathy in PS has not been previously described.


CONCLUSIONS
PS is a rare condition diagnosed in the newborn. It should be suspected in the presence of severe anemia and persistent lactic acidosis, and may manifest with early encephalopathy.
Division of Neonatology, Department of Pediatrics, University Hospital and University of Lausanne, CHUV, 1011, Lausanne, Switzerland.
Anne-Sophie
AS
Morel
Nadia
N
Joris
Reto
R
Meuli
Sébastien
S
Jacquemont
Diana
D
Ballhausen
Luisa
L
Bonafé
Sarah
S
Fattet
Jean-François
JF
Tolsa
D000740:Anemia / Q000175:diagnosis* / Q000235:genetics*; D001853:Bone Marrow / Q000473:pathology; D001855:Bone Marrow Diseases / Q000175:diagnosis*; D001923:Brain Chemistry; D017809:Fatal Outcome; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis*; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics*; D010182:Pancreatic Diseases / Q000175:diagnosis*; D013577:Syndrome