title: Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome.
abstract: 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.
authors.affiliation: Division of Pediatric Respiratory Medicine, University of California San Diego and Rady Children's Hospital, San Diego, California.
authors.forename: Mindy K
authors.initials: MK
authors.lastname: Ross
authors.forename: Linda S
authors.initials: LS
authors.lastname: Ellis
authors.forename: Lynne M
authors.initials: LM
authors.lastname: Bird
authors.forename: James S
authors.initials: JS
authors.lastname: Hagood
mesh_terms: D006008:Glycogen Storage Disease / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging*; D007231:Infant, Newborn; D007234:Infant, Premature; D008168:Lung / Q000000981:diagnostic imaging / Q000473:pathology*; D017563:Lung Diseases, Interstitial / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D008297:Male; D020928:Mitogen-Activated Protein Kinases / Q000502:physiology; D009634:Noonan Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics; D015398:Signal Transduction; D014057:Tomography, X-Ray Computed; D016216:Ultrasonography, Prenatal
chemical_list: D020928:Mitogen-Activated Protein Kinases; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11
keywords: KRAS; Mitogen-activated protein kinase (MAPK) signal transduction pathway (PTPN11; NRAS); RAF1; SHOC2; SOS1