Alkhorayyef Abdullah, Ryerson Lindsay, Chan Alicia, Phillipos Ernest, Lacson Atilano, Adatia Ian
Department of Pediatrics, Stollery Children's Hospital, University of Alberta, Edmonton, Canada.
Pediatr Cardiol. 2013 Feb;34(2):462-6. doi: 10.1007/s00246-012-0311-y. Epub 2012 Mar 28.
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.
本文描述了一名患有肺间质糖原沉积症、肺动脉高压和肥厚型心肌病的新生儿。该患者的致命结局与报道的孤立性肺间质糖原沉积症的良好预后形成对比。据作者所知，肺间质糖原沉积症与肥厚型心肌病的关联此前尚未见报道。作者拓宽了肺间质糖原沉积症的表型，并证明了肺活检在不明原因新生儿肺动脉高压病例中的诊断价值。
