Respiratory failure, juvenile myelomonocytic leukemia, and neonatal Noonan syndrome.
Noonan syndrome (NS) is a multiple malformation syndrome where confirmation of diagnosis is difficult in the newborn. We report a case of a dysmorphic neonate who presented with bilateral chylous effusions and juvenile myelomonocytic leukemia where NS was confirmed by the presence of PTPN11 mutation. Juvenile myelomonocytic leukemia in NS is uncommon. The leukemia is usually self-limiting but lethal cases have been reported. Decisions regarding need for the treatment are unclear and further understanding of the genotype-phenotype relationships in PTPN11 mutations may help direct this.
Cheong
Jeanie L Y
JL
Royal Women's Hospital, Carlton, Vic 3053, Australia. jeanie.cheong@rwh.org.au
Moorkamp
Martina H
MH
D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D007951:Leukemia, Myeloid / Q000150:complications / Q000235:genetics / Q000473:pathology*; D009154:Mutation; D009634:Noonan Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D012131:Respiratory Insufficiency / Q000150:complications / Q000235:genetics / Q000473:pathology*
D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases