We describe an infant prenatally diagnosed with hydrops fetalis ultimately found to have Noonan syndrome (NS). Prior to genetic confirmation of diagnosis, lung biopsy was performed which revealed widespread pulmonary interstitial glycogenosis (PIG), abnormal alveolarization, and mild inflammation. Although genetic alterations have been identified in NS, the mutations are heterogeneous and the diagnosis remains one of clinical suspicion. The combination of PIG and NS has not yet been documented in the literature. While the underlying pathophysiologic mechanism of PIG is unclear, we suggest that the mitogen-activated protein kinase signal transduction pathway members (PTPN11, KRAS, SOS1, RAF1, SHOC2, NRAS) involved in cellular growth factor signaling, which are affected in NS, can provide clues. In addition, this case demonstrates that empiric corticosteroids can be considered in complicated cases since biopsy did reveal an inflammatory component, not typically noted in PIG.
Keywords: KRAS; Mitogen-activated protein kinase (MAPK) signal transduction pathway (PTPN11; NRAS); RAF1; SHOC2; SOS1.
© 2013 Wiley Periodicals, Inc.