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Published on: July 3, 2009
Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome
Surasak Puvabanditsin1, Rosanna Abellar2, Adaora Madubuko1
1Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
Abstract:
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.
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