Journal of Neonatal Biology

Isabelle Guellec

Publications

• Case Report
  First Case of Congenital Myeloproliferative Disorder in a Newborn Diagnosed With Noonan Syndrome
  Author(s): Emeline Maisonneuve, Sandra Whalen, Clémence Conté, Bruno Carbonne and Isabelle GuellecEmeline Maisonneuve, Sandra Whalen, Clémence Conté, Bruno Carbonne and Isabelle Guellec
  
  Noonan syndrome (NS) is one of the most common genetic syndromes, but its diagnosis is difficult antenatally because prenatal ultrasound findings are unspecific. Infants with NS are predisposed to developing juvenile myelomonocytic leukaemia (JMML) or myeloproloferative disorders. We report a case of severe polyhydramnios and hydrops fetalis at 32+6 weeks gestation, complicated by preterm labour. Tocolysis, amnioreduction and pleuroamniotic shunt were performed. Fetal blood sampling showed: 1127 monocytes/mm3 and 245 metamyelocytes/mm3. The patient gave birth at 33 weeks and 4 days to a 2780 g male baby. Absolute monocyte count was maximum at 8000/mm3, without blasts in peripheral blood. Study of the PTPN11 gene identified a de novo heterozygous missense mutation. Chemotherapy could not be started due to the severity of the multiple organ failure. The patient died at 2 months old. The.. View More»
  DOI: 10.4172/2167-0897.1000174

  Abstract PDF