Bilateral agenesis of diaphragm with agenesis of left lung and gall bladder

Abstract

Bilateral agenesis of diaphragm with agenesis of left lung and gall bladder Background: Although congenital diaphragmatic hernia is one of the most common congenital anomalies, complete bilateral agenesis of the diaphragm is a very rare congenital malformation and associated frequently with other major anomalies. We report a case of bilateral diaphragmatic agenesis associated with major congenital anomalies. Case: A 2240g male infant was born at 35 weeks' gestation to a 34-year-old mother with a history of minimal prenatal care. Polyhydramnios was reported on prenatal level 1 scan. He experienced early respiratory distress requiring intubation. Apgar scores were 2/1/1 at 1, 5 and 20 minutes, respectively and efforts to resuscitate him were unsuccessful. He died at 2 hours of age. Autopsy revealed bilateral diaphragmatic agenesis associated with right pulmonary hypoplasia, left pulmonary agenesis, multiple cardiac abnormalities and gall bladder agenesis. Cytogenetic studies showed normal male karyotype. Conclusions: Bilateral agenesis of the diaphragm is a life-threatening malformation. Survival of these infants often depends on cardiopulmonary function. Also, bilateral agenesis of the diaphragm associated with gall bladder and unilateral pulmonary agenesis is a rare entity and its clinical significance needsfurther investigation.

Keywords

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Sol akciğer ve safra kesesi agenezisi ile birlikte bilateral diyafragma agenezisi

Öz

Giriş: Konjenital diyafragma hernisi sık görülen doğumsal anomalilerden biri olmasına rağmen, bilateral total diyafragma agenezisi oldukça nadirdir ve sıklıkla diğer major anomaliler ile birliktelik göstermektedir. Makalemizde major konjenital anomaliler ile birlikte bilateral diayafragma agenezisi olan bir vakayı sunduk. Vaka: 2240 gram ağırlığında, 35 gestasyon haftasındaki erkek bebek 34 yaşındaki anneden acil sezaryanla doğurtuldu. Prenatal takip yetersizdi ve 1. düzey USG'dapolihidramniyos saptanmıştı. Doğum odasında solunum sıkıntısı olan bebek entübe edildi. 1, 5, ve 20. dakika Apgarları sırasıyla 2/1/1 olan hasta, ressusitasyona cevap vermedi ve postnatal 2. saatinde kaybedildi. Otopside bilateral diyafragma agenezisi ile birlikte sağ pulmoner hipoplazi, sol pulmoner agenezi, multiple kardiyak anomali ve safra kesesi agenezisi tespit edildi. Sitogenetik çalışmalarda normal erkek karyotip saptandı. Sonuç: Bilateral diyafragma agenezisi mortalitesi yüksek olan bir konjenital anomalidir veprognoz hastaların kardiyopulmoner fonksiyonlarına bağlıdır. Ayrıca safra kesesi agenezisi ve pulmoner agenezi ile birlikteliği oldukça nadirdir. Klinik açıdan bu durum daha ileri araştırma gerektirebilir.

Anahtar Kelimeler

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Kaynakça

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