Open AccessHepatopulmonary Syndrome and Multiple Arteriovenous Fistulas in a Child with Niemann-Pick Disease
Author(s) -
Zeynep Reyhan Onay,
Tuğba Ramaslı Gürsoy,
Ayşe Tana Aslan,
Tuğba Şişmanlar Eyüboğlu,
Koray Akkan
Publication year - 2021
Publication title -
pediatric allergy, immunology, and pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.4
H-Index - 22
eISSN - 2151-3228
pISSN - 2151-321X
DOI - 10.1089/ped.2020.1244
Subject(s) - medicine , embolization , hepatopulmonary syndrome , hypoxemia , hypoxia (environmental) , arteriovenous fistula , cardiology , surgery , transplantation , oxygen , chemistry , organic chemistry , liver transplantation
Background: Niemann-Pick disease (NPD) is caused by abnormal storage of sphingomyelin. NPD may affect the pulmonary system and cause hypoxia. In the present case, both hepatopulmonary syndrome (HPS) and pulmonary arteriovenous fistulas (PAVFs) developed in a child with NPD and were successfully treated with repeated embolization. Case Presentation: We have reported the case of a 16-year-old-girl with NPD who suffered severe hypoxia, dyspnea, fatigue, had multiple PAVFs, and was diagnosed with type 2 HPS. To improve oxygenation, 10 PAVFs were embolized. She needed re-embolization after 9 months because of hypoxia redevelopment. Conclusions: Pulmonary involvement, HPS, and/or PAVFs could be responsible for hypoxemia in patients with NPD, who should, therefore, be investigated for HPS and PAVFs. Embolization could be beneficial. Some patients may need repeated embolization.