title: Pulmonary interstitial glycogenosis associated with pulmonary hypertension and hypertrophic cardiomyopathy.
abstract: A neonate with pulmonary interstitial glycogenosis, pulmonary hypertension, and hypertrophic cardiomyopathy is described. The fatal outcome for this patient contrasts with the reported favorable prognosis associated with isolated pulmonary interstitial glycogenosis. To the authors' knowledge, the association of pulmonary interstitial glycogenosis and hypertrophic cardiomyopathy has not been reported previously. The authors have broadened the phenotype of pulmonary interstitial glycogenosis and demonstrate the diagnostic value of lung biopsy in cases of unexplained neonatal pulmonary hypertension.
authors.affiliation: Department of Pediatrics, Stollery Children's Hospital, University of Alberta, Edmonton, Canada.
authors.forename: Abdullah
authors.initials: A
authors.lastname: Alkhorayyef
authors.forename: Lindsay
authors.initials: L
authors.lastname: Ryerson
authors.forename: Alicia
authors.initials: A
authors.lastname: Chan
authors.forename: Ernest
authors.initials: E
authors.lastname: Phillipos
authors.forename: Atilano
authors.initials: A
authors.lastname: Lacson
authors.forename: Ian
authors.initials: I
authors.lastname: Adatia
mesh_terms: D000015:Abnormalities, Multiple; D001706:Biopsy; D002312:Cardiomyopathy, Hypertrophic / Q000151:congenital / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004452:Echocardiography; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000151:congenital / Q000175:diagnosis*; D007231:Infant, Newborn; D008171:Lung Diseases / Q000151:congenital / Q000175:diagnosis*; D008297:Male; D011650:Pulmonary Alveoli / Q000473:pathology*