Demirel Nadir, Ochoa Roberto, Dishop Megan K, Holm Tara, Gershan William, Brottman Gail
Division of Pediatric Pulmonology, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Department of Medicine, Universidad de Ciencias Médicas, San José, Costa Rica.
Respir Med Case Rep. 2018 Jun 19;25:61-65. doi: 10.1016/j.rmcr.2018.06.010. eCollection 2018.
A 2-month-old female with worsening cough, respiratory distress and an abnormal chest X-ray was referred to our institution for further evaluation of suspected scimitar syndrome. She was found to have normal pulmonary venous drainage with a large patent ductus arteriosus and severe pulmonary arterial hypertension. Chest CT was suggestive of interstitial lung disease. Wedge lung biopsy revealed alveolar simplification and patchy pulmonary interstitial glycogenosis. A definitive diagnosis of Filamin A deficiency was made with genetic studies. The patient is currently showing clinical improvement on systemic glucocorticoid therapy.
一名2个月大的女性，咳嗽加重、呼吸窘迫，胸部X光检查异常，因疑似弯刀综合征被转诊至我院作进一步评估。发现她的肺静脉引流正常，有一个大的动脉导管未闭和严重的肺动脉高压。胸部CT提示间质性肺疾病。楔形肺活检显示肺泡简化和散在性肺间质糖原沉积症。通过基因研究确诊为丝状肌动蛋白A缺乏症。该患者目前在全身糖皮质激素治疗下临床症状正在改善。
