Cases reported "Alagille Syndrome"

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1/76. Dental treatment of a prospective recipient of a liver transplant: a case report.

    A protocol to treat a carious condition in a young girl scheduled to receive a liver transplantation is described. Teeth with serious caries were filled with amalgam. Those teeth with pulp exposure were extracted. To stop bleeding, sutures and a surgical splint with a periodontal pack were used. All procedures were performed as rapidly as possible to minimize stress. Antibiotics were used sparingly. By improving the oral health of transplant recipients, the chances that the transplanted liver will become infected are much reduced, increasing the likelihood of a successful surgical outcome. ( info)

2/76. Unsuspected bile duct paucity in donors for living-related liver transplantation: two case reports.

    Alagille's syndrome is a common cause of liver disease in children and may lead to the need for orthotopic liver transplantation. Alagille's syndrome is inherited in an autosomal dominant manner, with variable penetration, and may also be present in patients' parents, who may be considered potential donors for living-related transplantation. We report here on two cases in which the living-related donors for children with Alagille's syndrome had no liver function abnormalities or characteristic features of Alagille's syndrome. In both cases, the operation for living-related donation had to be aborted because of a paucity of bile ducts discovered intraoperatively. Given the variable presentation of Alagille's syndrome, we believe that it is necessary preoperatively to evaluate the biliary system of family members who are potential living-related donors for patients with this condition. ( info)

3/76. Jagged1 mutations in patients ascertained with isolated congenital heart defects.

    Mutations in Jagged1 cause alagille syndrome (AGS), a pleiotropic disorder with involvement of the liver, heart, skeleton, eyes, and facial structures. Cardiac defects are seen in more than 95% of AGS patients. Most commonly these are right-sided defects ranging from mild peripheral pulmonic stenosis to severe forms of tetralogy of fallot. AGS demonstrates highly variable expressivity with respect to all of the involved systems. This leads us to hypothesize that defects in Jagged1 can be found in patients with presumably isolated heart defects, such as tetralogy of fallot or pulmonic stenosis. Two patients with heart defects of the type seen in AGS and their relatives were investigated for alterations in the Jagged1 gene. Jagged1 was screened by a combination of cytogenetic and molecular techniques. Patient 1 was studied because of a four-generation history of pulmonic stenosis. Molecular analysis showed a point mutation in Jagged1 in the patient and her mother. Patient 2 was investigated owing to the finding of tetralogy of fallot and a "butterfly" vertebra on chest radiograph first noted at age 5 years. She was found to have a deletion of chromosome region 20p12 that encompassed the entire Jagged1 gene. The identification of these two patients suggests that other patients with right-sided heart defects may have subtle findings of AGS and Jagged1 mutations. ( info)

4/76. Macromastia in a newborn with alagille syndrome.

    We present a case of macromastia in a newborn with alagille syndrome. A review of the literature failed to find any prior reports of this findings in alagille syndrome patients. We propose that this patient's macromastia may be related to her liver failure and abnormal estrogen metabolism. ( info)

5/76. alagille syndrome with cavernous carotid artery aneurysm.

    We present a case of right sided blindness caused by a cavernous carotid artery aneurysm in a 17-year-old patient presenting with an alagille syndrome. The diagnosis was made by magnetic resonance imaging and confirmed by angiography. This aneurysm was treated successfully with endovascular placement of detachable balloons. Cerebral vascular malformations are rarely reported in association with this syndrome. We discuss the clinical presentation, diagnosis, treatment and detection of this type of abnormality. ( info)

6/76. Living related donor liver transplantation in a patient with severe aortic stenosis.

    We report the successful anaesthetic management of a young girl with Alagille's syndrome and severe aortic stenosis (resting pressure gradient 88 mm Hg) undergoing living related donor liver transplantation (LRDLT). The patient had end-stage liver disease and LRDLT was performed before replacement of the aortic valve. Anaesthesia was conducted uneventfully with the aid of a pulmonary artery catheter. intra-aortic balloon pumping was used in the perioperative period for protection against myocardial ischaemia. Total clamping of the inferior vena cava was avoided during surgery and volume administration was guided by the pulmonary artery pressure. A stable circulation was maintained in the reperfusion period. The patient was discharged from hospital on day 54 after operation with normal liver function. Two years later her aortic valve was replaced successfully. ( info)

7/76. 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. ( info)

8/76. Abdominal coarctation and alagille syndrome.

    Structural cardiac defects such as peripheral pulmonary stenosis are well-described in alagille syndrome (AS), which is transmitted in an autosomal dominant inheritance. The genetic defect, with incomplete penetrance and variable expression, is localized to the short arm of chromosome 20. Abdominal coarctation is an uncommon congenital anomaly, with a spectrum of symptoms that may range from hypertension, intermittent claudication to abdominal pain. The association of abdominal coarctation with AS is rarely described. We report such a patient who also had aberrations of the visceral vascular supply involving the celiac, splenic, and superior mesenteric arteries. The indications to treat the coarctation, and in the context of a patient with AS, in whom liver transplantation may be contemplated at some stage, merit discussion. ( info)

9/76. Laparoscopic findings in an adult case of alagille syndrome.

    Laparoscopic findings in a 32-year-old woman presenting with alagille syndrome are reported. The liver surface showed a segmental whitish discoloration on the surface of both lobes with a transverse sulcus which was not stained enough after an intravenous injection of indocyanine green (ICG). These findings suggested an acquired bile duct injury in addition to a congenital anomaly of the bile duct in this patient. ( info)

10/76. liver transplantation in a child with severe hypercholesterolaemia in alagille syndrome.

    INTRODUCTION: liver transplantation is a curative treatment modality in children with end stage liver disease in alagille syndrome. CLINICAL PICTURE: We report a 3-year-old child with this condition who had severe hypercholesterolaemia, pruritus and extensive xanthomatosis. TREATMENT: liver transplantation was performed in this patient. OUTCOME: He recovered well with normalisation of his lipid profile. This procedure also resulted in resolution of the disfiguring xanthomatosis. ( info)
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