Respiratory insufficiency in cutis laxa syndrome (Case report)

Abstract

3 years old girl transferred from a private hospital where she was early admitted with broncopneumonia+respira-tory failure and was mechanically ventilated for a week. Cutis Laxa was diagnosed when she first stayed in the hospital for a pulmonary infection at the age of 1. Radi-ologic examination showed hyperinflation of the lungs with flattered ribs demonstrating emphysema. Arterial blood gas analysis demonstrated CO2 retention with compensatory metabolic alkalosis. After 4 days of mechanical support she was weaned and extubated. But she was intubated again on the same evening with severe broncospasm attack leading to respiratory failure. As she extubated and reintubated with the same attack on the next day, she had a tracheostomy to the continue intermittant ventilatory support. During the following month she did well only with intermittant oxygen through easy breath. She was still dyspneic on exertion. She was discharged on with 54th day with her tracheotomy and oxygen supply at home. She was consulted periodically until she admitted to ICU with another infection causing acute respiratory and heart failure. She did not respond to medical and ventilatory therapy and died 13 months after her first discharge from our unit.

Özet

3 yasinda kiz olgu bronkopnomoni ve solunum yetmezligi nedeniyle 1 haftadir mekanik ventilator destek teda-visinde iken klinigimize nakil edildi. Olgu ilk kez 1 yasin-da iken, akciger infeksiyonu nedeni ile hastaneye yatml-diginda Cutis Laxa Sendromu tanisi almis. Akciger grafi incelemesi amfizem ile uyumlu idi ve arter kan gazi ana-lizinde metabolik olarak kompanse edilmis CO2 retansi-yonu mevcuttu. Olgu 1 hafta iginde 2 kez ekstube edil-meye cali§ildi, tedaviye direncli bronkospazm ve solunum yetmezligi nedeniyle basanli olunamadi. Kulak Bu-run Bogaz Klinigi konsultasyonu sonucu yapisal bir pa-tolojiye rastlanmadi. Olgunun hastahginin ozeliigi nedeniyle daha iyi bir diizelme kaydedilemeyecegi dusuniile-rek kahci trakeostomi acildi ve olgu mekanik ventilator-den ayrildi. 54. giinde gumiJs kaniil ile eve taburcu edildi. Arahkli kontrollerinde 4 kez akciger infeksiyonu nedeniyle medikal olarak tedavi edildi, 13. aydasiddetli bir akciger infeksiyonuna kalp yetmezligi tablosunun da eklen-mesiyle tedaviye yanit almamayarak olgu kaybedildi. Elastik lif dejenerasyonu ile karakterize olan Cutis Laxa Sendromu'nun resesif tipte solunum sistemi patolojileri ortaya cikabilir ve olgular bu nedenle kaybedilebilir.