[Auto-immune hepatitis of type 2 of the child. evolution quickly favorable of un usually serious affection]

Introduction: Auto-immune hepatitis of type 2 of the child associated with the presence with endoplasmic Antibody anti-reticulum were recognized there is more than 15 years. It is characterized by the presence of antibodies anti LKM1 associated in 30 per cent of the cases with antibodies anti LC1 with on the clinical level by an early beginning, according to an acute mode with an intense inflammatory activity with a high frequency of fulminant hepatitises and a fast evolution towards the cirrhosis

Observation: Malek aged of 8 years old was hospitalized for icteris with deterioration of the general state evolving 07 months before its admission. The examination found a patient eutrophic with cutaneo-mucus icteris moderate and a hepatic arrow to 13 cm; the examination in addition is normal. The biological assessment showed a hepatic cytolysis with ASAT/ALAT = 265/335; a marked cholestase [PAL = 3200 UI/I, sigma GT to 980 Ul/land a hyperbilirubinemy with 64,6 pmo1/1], an inflammatory syndrome and a hypergammaglobulinemy with 33,3 g/I. The TP was to 50 per cent, serologies of hepatitises A, B and C were negative, the cupremy = 15 mmol/I and the ceruloplasmine with 0,18 ng/mmol. The immunological assessment showed the presence of antibodies anti LKM1 and the antibodies anti LC1 which were positive to 1/640. Abdominal echography showed a liver of cirrhosis without signs of portal hypertension. The treatment rested on the association of prednisolone 40 mg/day and azathioprine 1,5 mg/kg/ day. The evolution was favorable with a clinical and biological remission with a 3 years passing

Conclusion: The Auto-immune hepatitis of type 2 is a severe affection which occurs readily in the child of more than 8 years. The intense inflammatory activity and the fast evolution towards the cirrhosis characterize this disease Our observation which corresponds to the first Tunisian pediatric case had the characteristic of a very insidious installation of the disease and of an evolution quickly favorable under treatment

[Digeorge syndrome in a new born: DEL22q11.2 IN Tuple1 Locus]

The DiGeorge syndrome is a genetic anomaly due to the microdeletion 22q11.2. This syndrome is characterized by a large variability in the clinical features. In this report we describe a DiGeorge syndrome diagnosed in a new born of a diabetic mother. He presented mild dysmorphia, ventricular septal defect and hypocalcaemia due to hypoparathyroidism. The diagnosis was confirmed by the cytogenetic study

[Fibrodysplasia ossificans progressiva. about one case]

Myositis ossificans progressiva is a rare autosomal dominant progressive disease of connective tissue. It consists on a heterotopic osteogenesis frequently associated to characteristic congenital malformations. We report a case of a 12-year-old girl which presented a heterotopic bone formation leading gradually to ankylosis. The diagnosis was suggested when we have discovered bone bridges between the rib cage and the superior limbs. Congenital malformations, most commonly of big toes and thumbs, are important criteria to draw on the diagnosis earlier and to avoid unnecessary biopsy or resection which may trigger off a flare of the disease. Therapeutic measures are essentially preventive and the prognosis is poor

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

[ haemolytic anaemia of child and adolescent. Study of 21 observations]

The auto-immune haemolytic anaemia [AHAI] is a scare entity in child. So the positive diagnosis is in easy rule. The therapeutically treatment remains the mainly difficulty because of the less age of some patients and often because of the unforeseenable variability of the diseases evolution. The prognosis is regularly different according to the forms if they are acute with a good prognosis or chronic with unfavourable evolution owing to the fact that a subjacent pathology is often associated. We report the results of a retrospective study of 21 child and teenagers affected by AHAI collected in a period of 16 years old [1986 - 2001]. The average age of these patients was 7 years 4 months [extreme 5 months and 18 years]. So 8 are aged less than 4 years. The outset was Brutal in 4 cases [19 per cent] and progressive in 17 cases [81 percent]. So the anaemic syndrome associating cutano-mucous pallor and asthenia, the haemolytic syndrome developed by icterus and dark urine constituted the most frequently consultation motives respectively observed in 76, 2 per cent and 42, 8 per cent of cases. However digestive signs [abdominal pain and/or diarrhea and/or vomiting] and signs linked to the associated disease [arthralgia, purpura] are revealing of AIHA in respectively 28, 6 and 1 9per cent of cases. The clinical triad of haemolytic anaemia [pallor, icterus and SMG] was noted in 47, 6 percent of cases. An haemogram revealed severe anemia in 17 cases [81 per cent], normochrome anaemia in 95, 2 per cent and macrocytary in the half of cases relating to an important hyper reticulosytosis. So it was regenerative in 20 cases and aregenerative in only one child relating with fierce appearing severe haemolysis. The anaemia has been associated with a thrombopenia in 9 cases and with leucooenia in 2 cases. The direct combs test was positive in 19 cases [90, 5 percent] in the two others cases, where it was negative the cold agglutinin research was positive [> 1/32]. The etiologic balance permitted to place the AIHA in 17 cases of secondary AIHA [81 percent] and in 4 cases of AIHA probably idiopathic [19 percent]. So the viral infections, the systemic diseases and the immunitary deficiency constitute the most frequently associated affections in our series found respectively in 23, 8 per cent, 33, 3 percent and 19 percent of cases. The prescribed corticoid treatment in 19 child permitted the obtainment an initial remission in 13 cases. The splenectomy realized in 4 child was effective in two cases. The prescribed immuno-suppresseur treatment in 4 child was effective in only one case. After a middle recession of 1 year and 9 months, the evolution was favorable [recovery] in 5 cases [23,8per cent]. Six infants were dead and 10 were lost sight