1/9. A case report: alagille syndrome.alagille syndrome consists of 5 major features comprising paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects and peripheral pulmonic stenosis. The female patient in this report met 4 of the 5 major features except ocular abnormality. The first clinical presentations were prolonged jaundice and generalized ecchymoses. She was treated by plasma replacement and vitamin supplement, particularly vitamin K1, which produced clinical improvement. This report also reviews the literature of alagille syndrome.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
2/9. alagille syndrome.Syndromic paucity of bile ducts or "alagille syndrome" is characterized by peculiar facies, chronic cholestasis, posterior embryotoxon, butterfly-like vertebral arch defects and peripheral pulmonary artery hypoplasia or stenosis. We present a two-year-old female child with the 'partial' or 'incomplete' alagille syndrome. The child had three of the five major features of the syndrome. A brief review of literature of the syndrome is presented.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
3/9. Anesthetic management of a patient with Alagille's syndrome undergoing living donor liver transplantation without blood transfusion.Alagille's syndrome (AGS), which has five main characteristics including chronic cholestasis; typical peculiar facies; posterior embryotoxon; butterfly-like vertebral-arch defects; and cardiovascular malformations, is rarely seen in taiwan, especially in a liver transplantation setting. We present the successful anesthetic management of a 3-year-11-month-old boy with AGS. The patient was anemic with a preoperative hemoglobin of 9.1 g/dl and had mild aortic stenosis and mild pulmonary artery stenosis. He underwent living donor liver transplantation without blood transfusion. The key points of successful anesthetic management included complete pre-operative evaluation of the cardiovascular system, and intra-operative maintenance of normothermia, normal ionized calcium, normal pH and stable hemodynamics. Surgical blood loss, ascites and intraoperative transudate loss were primarily replaced with 5% albumin and crystalloids to maintain the central venous pressure around 10 cm H2O. No blood transfusion was given for a hemoglobin level higher than 6-7 g/dl, but the intravascular volume was sufficient to maintain stable hemodynamics. Our patient tolerated the anemia well, it did not seem to affect the recovery of the new liver allograft postoperatively.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
4/9. A case of Takayasu disease with findings of incomplete alagille syndrome.A 16-year-old girl being followed up for takayasu arteritis for the last 3 years was also found to have alagille syndrome upon findings of atypical facies, posterior embryotoxon, high-pitched voice, osteopenia and hypogonadism. This case might imply a possible relationship between takayasu arteritis and alagille syndrome.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
5/9. alagille syndrome with prominent skin manifestations.alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests 5 major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects and peripheral pulmonic stenosis. We report a 6-year-old male child who presented with a history of progressive jaundice since infancy, generalized pruritus and widespread cutaneous xanthomata. He was also found to have obstructive jaundice, pulmonary stenosis with ventricular septal defect and paucity of bile ducts in liver biopsy. Histopathology confirmed skin lesions as xanthomata. The child was diagnosed as a case of alagille syndrome. This particular syndrome with prominent cutaneous manifestations has been rarely reported in the Indian literature.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
6/9. Aortic calcification and renal cysts demonstrated by CT in a teenager with alagille syndrome.alagille syndrome, or arteriohepatic dysplasia, is a disorder characterized by paucity of intrahepatic bile ducts, peculiar facies and skeletal anomalies. We report a typical case of this syndrome in an 18-year-old girl, in whom abdominal CT showed bilateral renal cysts and aortic wall calcification, findings unreported in the radiological literature.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
7/9. liver transplantation in children with alagille syndrome--a study of twelve cases.cholestasis associated with alagille syndrome may, in a few cases, be extremely severe and result in major impairment in the quality of life during early childhood and end up in cirrhosis eventually. We report the results of liver transplantation in 12 children with a severe hepatic form of alagille syndrome. All children presented with cholestatic jaundice from birth, peculiar facies, stenosis of the peripheral pulmonary artery, and posterior embryotoxon; butterfly-like vertebrae were present in 9 children. At the time of transplantation (mean age 7 years 10 months) refractory pruritus was present in 9 children, xanthoma in 11, and height and weight retardation in 11. Total serum bilirubin ranged from 116 to 322 mumol/L and total serum cholesterol from 3.5 to 29 mmol/L. Systolic right ventricular pressure was moderately raised (36 to 48 mmHg) in 5 children; mean creatinine clearance was 99 ml/min/1.73 m2. Histologic examination of the removed livers showed cirrhosis, severe annular fibrosis, and moderate portal fibrosis in 4 children each. Follow-up in the 11 survivors has ranged from 14 months to 5 1/2 years. All lead normal lives. pruritus and xanthomas disappeared. Increase in height was observed in 8 of the 10 survivors who had growth retardation prior to transplantation. School level is normal in 4 (median age at LT: 5 yr 9 mo) and below normal in 6 (median age at OLT: 9 yr 9 mo). liver function tests are normal in 10 children. Mean creatinine clearance is 101 ml/min/1.73 m2. These results indicate that the quality of life can be considerably improved after liver transplantation in children with a severe hepatic form of alagille syndrome and suggest that it could be carried out before these children attend elementary school.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
8/9. Ocular anomalies in the alagille syndrome (arteriohepatic dysplasia).BACKGROUND: The alagille syndrome (arteriohepatic dysplasia) is a well-recognized multiple malformation syndrome consisting of a paucity of intrahepatic bile bile ducts, peripheral pulmonary artery hypoplasia with variable cardiac abnormalities, cholestatic facies, butterfly-like vertebral arch defects, and variable ocular anomalies, most commonly posterior embryotoxon and pigmentary retinopathy. methods: The authors studied ocular findings in six patients from two families with alagille syndrome to characterize more fully the spectrum of ocular anomalies in this disorder. RESULTS: Ocular anomalies consisted of a peculiar mosaic pattern of iris stromal hypoplasia in all patients, posterior embryotoxon and microcornea in five patients, anomalous optic discs in five patients, regional peripapillary retinal depigmentation in three patients, and a congenital maculopathy in one patient. CONCLUSION: The alagille syndrome comprises a broad spectrum of ocular anomalies involving the cornea, iris, retina, and optic disc. In the setting of neonatal cholestasis, the findings of microcornea, posterior embryotoxon, mosaic iris stromal hypoplasia, regional peripapillary depigmentation, congenital macular dystrophy, and anomalous optic discs should suggest the diagnosis of alagille syndrome.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
9/9. steatocystoma multiplex and leuconychia in a child with alagille syndrome.alagille syndrome is a rare autosomal dominant developmental disorder, characterized by congenital paucity of interlobular bile ducts, peculiar facies, posterior embryotoxon, bone abnormalities, and peripheral pulmonary artery stenosis. Cutaneous involvement in this disorder is quite rare and the association of alagille syndrome with multiple comedones and cysts has been described only once. Here, we report the clinical and histological findings of a 7-year-old patient affected by alagille syndrome who presented multiple cystic lesions and comedones reminiscent of steatocystoma multiplex and a congenital total true leuconychia. Although unexplained, the association of this syndrome with a developmental disorder of the pilosebaceous unit may not be fortuitous.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |