RESUMEN
El síndrome de Alagille es un trastorno genético cuya manifestación fundamental es una colestasis crónica producida por una hipoplasia de las vías biliares intrahepáticas, y se asocia a malformaciones congénitas cardiacas, renales y esqueléticas en pacientes con un fenotipo peculiar. Tiene una frecuencia de aparición de 1 por cada 100 000 nacidos vivos. La lesión histológica está dada por una reducción en la relación entre el número de conductos biliares y el de los espacios porta. Tiene una mortalidad global de un 20 %, y los pacientes pueden llegar a necesitar transplante hepático para su supervivencia. Se describe un paciente de 6 años de edad, femenina, que ingresa a los 23 días de nacida en el Hospital Pediátrico "Dr. Eduardo Agramonte Piña" por bronconeumonía, pero durante su estancia en el hospital se detecta síndrome colestásico dado por íctero y acolia, además de estenosis pulmonar y facies característica. Se realiza biopsia hepática compatible con síndrome de Alagille. El caso fue evaluado y se diagnostica la enfermedad por la presencia de criterios diagnósticos. Evoluciona de forma estable, con seguimiento por consulta externa hasta los 6 años, cuando ingresa en el Hospital Pediátrico "William Soler" para transplante hepático.
Alagille syndrome is a genetic disorder and its main manifestation is chronic cholestasis caused by intrahepatic bile duct hypoplasia. It is associated with cardiac, renal and skeletal congenital malformations with peculiar phenotypes. It can occur in one per 100 000 livebirths. The histological lesions are caused by a reduction of the ratio of the number of bile ducts and the number of porta spaces. The global mortality rate of the disease is 20 % and the patients may need some hepatic transplantation for survival. Here is the case of a 6 years-old girl who was admitted to "Dr Eduardo Agramonte Piña" hospital when she was 23-days-old because she had bronchopneumonia, but during her stay at hospital, she was detected a cholestatic syndrome with jaundice and acholia in addition to pulmonary stenosis and characteristic facies. A hepatic biopsy was performed. On the basis of some diagnostic criteria, the case was evaluated and diagnosed with this disease. Her progression was stable and she was followed-up until she was 6 years of age when she finally was admitted to "William Soler" hospital for liver transplantation.
RESUMEN
Objective To explore diagnosis and treatment of biliary hypoplasia with huge choledochal cyst in infants.Methods From Feb 2003 to Dec 2011,278 choledochal cyst cases were treated in our hospital.There were 3 infant cases of biliary hypoplasia with huge extrahepatic choledochal cyst diagnosed and treated during this period.All patients underwent cholangiogram demonstrating patent,but markedly diminutive extrahepatic biliary structures.After excision of the cyst,hepatic duct was injured in 1 case.The cyst wall was removed,a stent was put inside of hepatic duct,and Roux-en-Y hepaticojejunostomy was porformed.Results All three patients (ages from 1 month to two months) received the Roux-en-Y hepaticojejunostomy,none of our patients has developed stenosis and fistula of the Roux-en-Y hepaticojejunostomy.Intraoperative cholangiogram showed the huge choledochal cyst and diminutive intrahepatic ducts.All three cases were followed-up for 1-5 years,there was no jaundice and nor stones formation.Conclusions In cases of huge choledochal cyst when intraoperative cholangiogram demonstrates a diminutive biliary tree with huge choledochal cyst,great care is required during cyst excision in order not to injury the hepatic duct.Stent placement into hepatic duct helps bile flow at early stage after surgery.
RESUMEN
Objective To evaluate the value of laparoscopic-assisted cholangiography in diagnosing prolonged jaundice in infants.Methods Through an umbilical troear,an laparoscope was placed into the abdominal cavity to detect the gallbladder and liver.After confirming that the choleeyst is normal,we pulled out the fundus of the gallbladder through the right subcostal trocar,and then inserted a catheter into the gallbladder for cholangiography.If the fundus could not be exteriorized because of gallbladder atresia, the patient would be converted to an open surgery.Results Cholangiography showed infant hepatitis syndrome or cholestasis in 8 cases,biliary hypoplasia in 2,and biliary atresia in 2.In 5 patients,the gallbladder was dissected from the liver bed before cholangiography,2 of them had biliary hypoplasia and 3 showed biliary atresia.Cholangiography was given up in 21 children because of liver cirrhosis.These patients were diagnosed with biliary atresia and then were treated by Kasai portoenterostomy. Conclusions Laparoscopic-assisted cholangiography is a simple,accurate,and safe method in the diagnosis of prolonged jaundice in infants.By using the procedure,the whole biliary tree can be shown clearly without leading to serious injuries.