progressive family intrahepatic cholestasis difficulty of diagnosis and taking charge in a developing country

The progressive family intrahepatic cholestasis or Byler syndrome is a group of recessive autosomic illness. It is responsible of an intra-hepatic cholestate which is secondary to an anomaly of the metabolism and the excretion of biliareses acid .In spite of progress achieved over the last few years in the understanding of the physio-pathological mechanisms and the genetics of this group of cholestasis, the hold in charge remains difficult in a developing country like Tunisia. Patient and methods: it is about a retrospective survey concerning 12 children treated in the paediatric service during a period of 18 years [1986-2003] for progressive family intrahepatic cholestate confirmed by clinical, biological and histological data. our set includes 12 children who have presented a cholestatic jaundice with dark urine and discoloured waste beginning between the ages of 3 days and 18 months with an average age of 4 months, the parental inbreeding has been noted in 10 patients, the domestic antecedents of jaundice of the infant were found in 5 cases the jaundice was in irregular all cases and partner to a prurits in 8 cases. The hyperbilirubinemy and the increase of the alkaline phosphatases were present with all patients. The rate of cholesterol was normal with all patients. The gamma GT was normal in 10 cases and increased in 2 cases, biliary acids have been measured in 10 patients, they were raised in all cases. The hepatic biopsy has been achieved in 10 cases; it showed signs of cholestase and fibrosis in all cases. Eight patients received a treatment associating acidic ursodesoxycolic [AUDC] and Rifampicin, whereas 4 patients have been treated with cholesteramin in the absence of hold social. The K vitamin by way parenterale has been prescribed for all children, whereas vitamins A and E, not available in Tunisia are taken only by 2 patients. The evolution has been made toward the death in a graph of decomposed cirrhosis in 3 patient [age ranging from 1 month to 4 years]. The other patients are treated again with thrusts of jaundice and pruritus but with no sign of serious hepato-cellular insufficiency. A lot of difficulties persist at the level the diagnosis of the PFIC in Tunisia [biliary acid dosage abroad] and especially at the therapeutic level: unavailability of fat-soluble vitamin and absence of a hepatic transplantation program

Primtive neuroetodermal tumors in childhood Abour four cases

Peripheral primitive neuroectodermal tumors are malignant small round cell tumors which occur rarely in children we retrospectively reviwed the clinical data and radiological studies of four such cases. the youngest child had a pelvic tumor and each of two children had a chest wall tumor. the fourth patient had a bone swelling tumors were all diagnosed by histological and immunhistochimical examinations most patients had combined treatment with chemotherapy surgery and radiation therapy. Best results were obtained in two cases and another died. in this report the clinical aspects of PNET in children are described reviewing the presentation of the disease in four patients and detailing the treatment strategies

[Primitive lymphedema of children. About 4 observations]

In children, the lymphedema often results from a primitive abnormality of lymphatic vessels. Through four observations depicted in the pediatric department of Sfax, we try to show the clinical and etiological polymorphism of this disease and to underline the difficulties of the coverage especially at the child. 1: a girl hospitalized at birth for Bonnevie-Ullrich's syndrome associating an innate lymphedema and Turner's syndrome. A boy hospitalized at the age of 13 months for congenital unilateral lymphedema with penio-scrotal atteinte, associated to urinary malformation [not obstructive pyelo-ureteral connective syndrome]. A 7 years old boy hospitalized for familial primitive premature bilateral lymphedema type Meige. A 13 years old boy, hospitalized for recidivated erysipele. The diagnosis of sporadic primitive premature unilateral lymphedema associated to venous malformation was retained

[Diffuse pulmonary lymphangiomatosis: nterest of the treatment by the interferon alpha. About an observation]

Diffuse pulmonary lymphangiomatosis is a rare innate pathology characterized by a multifocal proliferation then a dilation of the lung lymphalic vessels. It can be shown at any age, but especially at the infant essentially by non specific respiratory signs. Diagnosis is histopathological. The purpose of our study is to clarify the interest of the interferon in the treatment of this pathology. One-year-old infant Nasr, hospitalized for investigation of a dyspnea evolving since the age of 4 months. The radiography of the chest under treatment antibiotic without clinical or radiological improvement. An etiological inquiry was begun allowing eliminating most frequent pathologies responsible of interstitial chronicle pneumopathies. A surgical lung biopsy was practiced, ended in a diffuse pulmonary lymphangiomatosis. A treatment with interferon was prescribed. Evolution was favorable with a recession of three years and a half. Interferon would be an effective treatment in the diffuse pulmonary lymphangiomatosis but other studies are necessary to appreciate better its effect in this pathology