Progressive familial intrahepatic cholestasis type 3

Progresif familyal intrahepatik kolestaz, biliyer siroz ve kolestaz ile karakterize bir grup hastalıktır. Süt ço- cuğu döneminde başlar ve yaşamın ilk on yılında siroza ilerler. Klinik bulgular, laboratuvar incelemeleri ve morfolojik çalışmalarla diğer çocukluk çağı kolestatik karaciğer hastalıklardan ayrılmıştır. Son moleküler ve genetik çalışmalarla üç tipi için sorumlu genler tanımlanmıştır. Tip 3, yaşamın ilk aylarında görülen ve sonra biliyer siroza ilerleyen tekrarlayan kaşıntı ve/veya sarılık atakları ve artmış serum gama-glutamil transferaz ile karakterizedir. Karaciğer nakli bu hastalıkta tam tedavi sağlamaktadır. Ursodeoksikolik asit ve parsiyel eksternal biliyer diversiyon karaciğer nakline alternatif tedaviler olarak sunulmaktadır. Bu yazıda, sarılık nedeniyle hastanemize başvuran, progresif familyal intrahepatik kolestaz tip 3 tanısı alan ve ursodeoksikolik asit ile tedavi edilen iki aylık erkek hasta sunuldu.Progressive familial intrahepatic cholestasis is a group of diseases characterised by biliary cirrhosis and cholestasis. This disease begins in infancy and usually progresses to cirrhosis within the frst decade of life. It has been distinguished from other forms of cholestatic liver diseases in childhood by clinical fndings, labora- tory observations, and morphologic studies. Recent molecular and genetic studies have identifed the genes responsible for the three types. Type 3 is characterised by recurrent pruritus or jaundice and/or high serum gamma-glutamyl transferase levels. Liver transplantation is a curative modality of treatment in this disease. Ursodeoxycholic acid and partial external biliary diversion may represent alternatives to liver transplanta- tion. In this paper, we presented a 2-month-old male patient who admitted to our hospital because of jaundice, diagnosed as progressive familial intrahepatic cholestasis type 3, and treated with ursodeoxycholic acid

Hamartoma of the Larynx: An Unusual Cause of Stridor

Background: Hamartoma of the larynx is a very rare lesion, and the number of reported cases is limited. Signs and symptoms include stridor, changes in voice, eating and respiratory complaints. Stridor is a sign of upper airway obstruction. Patients presenting with stridor and severe respiratory distress necessitate urgent otolaryngologic evaluation. Case Report: Herein, we report a case of laryngeal hamartoma presenting with recurrent pneumonia and persistent stridor in a 7-month-old patient. He was admitted to hospital with the initial diagnosis of recurrent pneumonia and persistent stridor. Stridor was not responsive to cool mist, nebulised epinephrine or dexamethasone. Cervical computed tomography (CT) revealed a solid, nodular mass on the posterolateral wall of larynx. The mass was excised surgically. After surgical removal of the hamartoma, the child was relieved of the obstruction. Conclusion: We want to emphasise that patients presenting with persistent stridor and severe distress necessitate urgent otolaryngologic evaluation