Journal of Rare Disorders: Diagnosis & Therapy

Neonatal Chylothorax and Dysmorphic Phenotype: A Noonan Syndrome?

Congenital chylothorax is an abnormal accumulation of chyle in the pleural space. Most are idiopathic, but it may be a characteristic of Down, Turner and Noonan syndromes. We report the case of a 4 y old female with a history of polyhydramnios, hydrops fetalis and bilateral congenital chylothorax. She had a pulmonary valve stenosis, short stature (<P3), psychomotor delay, and distinctive facial features. Karyotype and cerebral magnetic resonance were normal. She was diagnosed with Noonan syndrome according to Van der Burgt criteria. Molecular genetic studies were undertaken and a p.Glu139Asp mutation was found in PTPN11. This report illustrates that NS should be suspected in patients presenting with congenital chylothorax, dysmorphic phenotype and a normal karyotype. Based on the proportion of Noonan syndrome attributed to a mutation in each gene, we recommend the sequence analysis of PTPN11 as the first step in the testing
strategy.

Author(s):

Sara Suárez-Cabezas, Daniel Natera-de Benito, Pilar Pérez-Segura, Lucia Llorente-Otones, María José Alcázar Villar and María José Rivero-Martin MJ

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