Zor Hava Yolu ve Pulmoner Hipertansiyon Birlikteli?i olan I-Cell Hastal ? Olgusu

Difficult Airway and Pulmonary Hypertension Coexistence in a Child With I-Cell Disease

Özet

I-cell hastal ? (mukolidipoz tip 2) otozomal resesif kalt ml , çocukluk yaL grubunda ço?unlukla solunum yetmezli?ine ba?l ölümcül seyredebilen lizozomal enzim bozuklu?udur. Hastal ? n en s k görülen bulgular mental ve motor retardasyon ile birlikte tipik orofasiyal anomalilerdir. Tipik kardiyak bulgular mitral kapak kal nlaLmas , aortik kapak kal nlaLmas , hipertrofik ve dilate kardiyomiyopatidir. Mukopolisakkaridozlar pediatrik anestezide görülen en zor hava yolu problemleri olarak tan mlanmaktad r ve bunu teyit eden daha önce yay nlanm L birçok yay nda hava yolu problemlerinin yüksek oldu?u bildirilmiLtir. Bu çal Lmada I-cell hastal ? (mukolidipoz tip 2) tan s alan, zor hava yolu ve bu hastal kla birlikte nadir bildirilen a? r pulmoner hipertansiyonu olan bir bebek sunulmuLtur

Abstract

I-cell disease (mucolipidosis type II) is an autosomal recessive lysosomal enzyme targeting disorder leading to fatal outcome in childhood mostly due to respiratory insufficiency. The most common features of the condition are mental and physical retardation with typical orofacial features. Typical cardiac involvement includes thickening and deformation of mitral and aortic valves and dilated or hypertrophic cardiomyopathy. Mucopolysaccharidoses have been described as the worst airway problems in pediatric anesthesia, and there have been a number of previous reviews that have demonstrated a high incidence of airway problems. Here, we report the clinical course of an infant with confirmed I-cell disease (mucolipidosis type II) complicated by difficult airway and severe pulmonary hypertension, which is very rarely associated with this disorder.