Focal liver hyperplasia in a patient with Alagille syndrome: Diagnostic difficulties. A case report.

INTRODUCTION: Alagille syndrome is a multisystem autosomal disorder. The main clinical features are chronic cholestasis due to paucity of intrahepatic bile ducts, which can progress to cirrhosis and liver failure. PRESENTATION OF CASE: A 15 year-old girl with Alagille syndrome was referred for liver transplantation. She developed severe cirrhosis with refractory ascites. In the pre-transplant evaluation, imaging studies disclosed liver atrophy with a high density pseudotumor in the segment 4, raising the possibility of a hepatocellular carcinoma. However, behavior of the lesion was highly suggestive of focal compensatory hyperplasia surrounded by an atrophic liver. The patient was registered on the waiting list. DISCUSSION: Hepatic lesions have been described in Alagille syndrome in isolated case reports, and most of these have been reported to be hepatocellular carcinoma. However, they can be related to an area of focal compensatory hyperplasia in severe cirrhosis. These findings may also explain why progression of liver disease occurs only in 15% of patients. CONCLUSION: The presence of a large hepatic nodule Alagille syndrome can be benign in these patients also predisposed to hepatocellular carcinoma. Therefore, cautious evaluation with magnetic resonance imaging study before liver transplantation is mandatory.

Nodular hyperplasia of the gastrointestinal tract after liver transplantation: role of immunosuppressive therapy? A case report.

Nodular lymphoid hyperplasia (NLH) of the gastrointestinal tract is a rare disease usually reported in patients with congenital or acquired immunodeficiency and chronic gastrointestinal infections. However, no case of NLH in a patient receiving immunosuppressive therapy has been reported to date. We describe the case of a woman who developed chronic diarrhea related to NLH 9 years after liver transplantation. Other causes of diarrhea and NLH were excluded. Her immunosuppressive regimen consisted on mycophenolate mofetil (MMF) and tacrolimus. Reduction of MMF dose improved symptoms but led to a rising aminotransferase level. Given the risk of graft rejection, MMF at full dose was resumed and she was started on symptomatic treatment for diarrhea. The role of immunosuppressive drugs in the pathogenesis of NLH may be related to the reduction of T- and B-lymphocyte proliferation and decreasing antibody production. NLH will further develop to compensate functionally inadequate lymphoid tissue, as reported in congenital immunodeficiency states.

Cerebral venous sinus thrombosis as presenting feature of ulcerative colitis.

Thrombosis is a well recognized complication of inflammatory bowel disease that occurs in 1.3 to 6.4% of patients, however, cerebral vascular involvement is unusual. We present the case of a 16-year-old female in whom cerebral venous thrombosis was the presenting symptom of an active ulcerative pancolitis. Thrombophilia screen (plasma levels of proteins C and S, antithrombin, antibeta2-glycoprotein, lupus anticoagulant and anticardiolipin antibodies, activated protein C resistance, homocystein level antinuclear antibodies) was negative. The patient was successfully treated with anticoagulant therapy, phenobarbital and sulfasalazine. Cerebral venous thrombosis is an exceptional presenting feature of ulcerative colitis. Disease activity may play a major role in the occurrence of thrombosis.

[Ulcerative colitis and schizophrenia: fortuitous association or etiopathogenic link?]. / Rectocolite hemorragique et schizophrenie: association fortuite ou lien etiopathogenique?

BACKGROUND: Ulcerative colitis is a chronic inflammatory bowel disease with multiple pathogenic factors. Psychiatric disorder have frequently been associated to ulcerative colitis, the most frequent being depression and anxiety, whereas schizophrenia is unusual. AIM: Report a new case of ulcerative colitis associated topsychiatric disorder. CASE-REPORT: We report the case of a 42-year-old woman with ulcerative colitis associated with schizophrenia. Although the two diagnoses were concomitant, on questioning, she revealed that digestive symptoms began before psychiatric disorders. CONCLUSION: Few cases of schizophrenia associated with ulcerative colitis have been reported in the literature. We discuss epidemiological, etiopathogenic and therapeutic links between the two diseases.

Budd-Chiari syndrome associated with Behçet's disease.

OBJECTIVES: Budd-Chiari syndrome is a rare and serious complication of Behçet's disease, and is the result of occlusion of the major hepatic veins, the adjacent inferior vena cava, or both. The aim of this study was to determine the prevalence, clinical and laboratory findings, and treatment and clinical course of Budd-Chiari syndrome associated with Behçet's disease. METHODS: We analyzed retrospectively the charts of 220 patients fulfilling the international diagnostic criteria of Behçet's disease. From them, we selected those with Budd-Chiari syndrome, and analyzed their epidemiological and clinical imaging features and outcomes. RESULTS: Seven male patients, mean age 29 years and already diagnosed with Behçet's disease, had Budd-Chiari syndrome. The clinical course was from subacute to chronic in all cases. Thrombosis of hepatic veins was associated with inferior vena cava thrombosis in six cases. Four patients had other venous thromboses (superior vena cava and lower limbs) and one also had pulmonary emboli. One patient was positive for anticardiolipin antibodies. All patients had anticoagulation therapy, and six had high-dose corticotherapy associated, in two cases, with monthly cyclophosphamid intravenous pulses. Clinical outcome was favourable in six cases, and one patient died of hepatic failure. CONCLUSION: The prevalence of Budd-Chiari syndrome in patients with Behçet's disease is 3.2%, confirming that this syndrome is not uncommon in Behçet's patients. The inferior vena cava is frequently involved in combination with hepatic veins and often associated with other venous thrombosis. The prognosis may be favorable with medical interventions, including anticoagulation, treatment of the vasculitis and the use of diuretics when required.

[Pulmonary hyalinizing granuloma revealed by a pituitary gland diffusion]. / Granulome pulmonaire hyalinisant révélé par une localisation à la base du crâne.

INTRODUCTION: Pulmonary hyalinizing granuloma is a rare fibrosing lesion of the lung, characterized by its histological appearance which includes central whorled deposits of lamellar collagen. The extrapulmonary diffusion of the disease is extremely rare, and in our knowledge any case of pituitary diffusion has ever been reported in the literature. EXEGESIS: We reported an unpublished case of a 31-year-old woman presenting with amenorrhea, galactorrhea, diplopia, headache, polyuria and polydipsia. The diagnosis of pulmonary hyalinizing granuloma revealed by an intracranial localization was based on radiologic and pathologic findings. Clinical course was favourable with corticotherapy. CONCLUSION: Our report is particular because cerebral localization was the initial manifestation of primary hyalinizing granuloma and because of the favourable outcome with corticotherapy.