Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome

الملخص EN

We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to dysphagia/foregut dysmotility, and respiratory failure.

Prenatal molecular genetic analysis revealed a fetus carrying c.184T>G (p.Tyr62Asp) pathogenic variant in PTPN11.

The infant eventually succumbed to respiratory failure.

Bacterial and viral cultures/studies were all no growth/negative.

Pulmonary capillaritis and vasculitis were noted at autopsy.

This report presents a new case of Noonan syndrome with unusual associated disorders and a review of the literature.