[Infantile visceral leishmaniasis: difficult diagnosis in cases complicated by hemophagocytosis].

Background: Hemophagocytosis has already been reported in cases of visceral leishmaniasis and thus may complicate search for diagnosis.

Case Report: A previously healthy 2 year-old boy was referred for fever and splenomegaly with pancytopenia. An initial diagnosis of kala-azar was refuted because of absence of biological inflammatory syndrome, negativity of bone-marrow aspiration and splenic ponction and of specific serology.

[Screening of hemoglobinopathies and molecular analysis of beta-thalassemia in Central Tunisia].

Background: Previous investigations have permitted to locate 16 beta-thalassemic mutations in different samples of the Tunisian population. One of them (IVS I nt 2: T--G) had been found only in the central region of Tunisia. Our research was carried out in this part of the country to estimate the prevalence of this mutation and to establish a prenatal diagnosis using appropriate probes.

[A rare cause of rectal hemorrhage in children: rectal angiodysplasia].

Background: Parietal vascular malformations of the intestinal tract are rare and their diagnosis is often difficult.

Case Report: A 2 year-old boy had suffered from intermittent rectal bleeding since the age of one year. Endoscopic examination showed unspecific congestive changes and biopsy showed features of chronic inflammatory changes in the rectum.

[Ataxia telangiectasia. Clinical and biological study in 17 cases].

Seventeen cases of ataxia telangiectasia (AT) were diagnosed over a period of 10 years. The children affected by AT were aged about 7 years and they were preferentially males (67%). The principal clinical aspects were: cerebellous ataxia (98%), recurrent ENT infections (86%) and ocular telangiectasia (96%).

Phenotypic expression of familial hypercholesterolaemia in central and southern Tunisia.

We studied 14 families with familial hypercholesterolaemia (FH) from Central and Southern Tunisia. Twenty-six living homozygotes were identified in these areas of whom 24 homozygotes and 27 of their obligate heterozygote parents are the subject of this report. Ten of the 14 families are unrelated and in 9 of them there were consanguineous marriages.

[Histiocytosis X and sclerosing cholangitis].

The case of a seven-year-old with multifocal (type II) Langheran's cell histiocytosis since the age of two years is reported. Despite therapy, biliary cirrhosis with portal hypertension developed gradually. Histologic studies of liver biopsy specimens, computed tomography, and transhepatic cholangiography disclosed dilatation of the bile ducts, suggesting sclerosing cholangitis, a specific complication of Langherans' cell histiocytosis which precipitates the development of biliary cirrhosis.

[Imerslund-Najman-Grasbeck anemia. Apropos of a case].

Imerslund-Najman-Grasbeck disease is a rare inherited megaloblastic anaemia secondary to a selective malabsorption of vitamin B12 by ileal enterocytes. The authors report on a 4 year-old tunisian girl who presented as visceral infantile leishmaniasis because of huge splenomegaly and major anaemia. The diagnosis of Imerslund disease was performed on the basis of the association of typical megaloblastic cells in the marrow, permanent proteinuria and favourable outcome under parenteral B12 administration.

[Infantile cystinosis. A new Tunisian case].

A case of cystinosis in a three and a half-year-old is reported. Suggestive manifestations included severe rickets, small stature, and complex renal tubule dysfunction meeting the criteria for secondary Fanconi syndrome. Diagnosis was established by the discovery of retinal lesions upon ophtalmologic evaluation and, above all, by the finding that intracellular leukocyte cystine levels were increased to 16 mumol of 1/2 cystine per gram protein.

[Cirrhosis and cirrhogenic diseases in Tunisian children. Multicenter study of 65 cases].

Over a period of 10 years, 65 cases of hepatic cirrhosis and cirrhogenic disease have been observed in five Pediatric Centers in mid Tunisia. The age of the patients ranged from 30 days to 14 years. The main etiology was biliary cirrhosis (24 cases) followed by post-hepatic cirrhosis (15 cases).

[Factors associated with low birth weight in Tunisian Sahel].

The aim of this study, which was carried out in the area of Monastir from September 1st to December 31, 1989 was to evaluate the incidence of and to identify the factors associated with low birth weight (LBW). The results showed that LBW neonates make up 7.6% (n = 413) of the 5,419 live births, 57.

[2 familial cases of homocystinuria one of which revealed by fatal hypertensive encephalopathy].

Two cases in the same sibship are reported. The elder patient, who had posterior dislocation of the lens resulting in glaucoma and significant psychomotor retardation, died at the age of 13 with malignant arterial hypertension. Death was caused by thrombotic events (left carotid artery, coronary vessels, renal arteries and arterioles with fibrous endarteritis).

[Meningococcosis in Tunisia. Apropos of 80 cases].

Meningococcosis are nowadays an health problem because their incidence rate (38 cases/100,000 people in 1986 in Mahdia region) and a high death rate (40%) due to fulminating forms. At the occasion of a prospective study during the first six months of 1987, the authors report the emergence of C serogroup (21%), the smallness of A serogroup (6.50%) and the predominance of B serogroup (68%).

[Unusual aspects of the late manifestations of diaphragmatic hernia].

A 5-year-old boy investigated for abnormality in right cardiophrenic angle was found on radiologic and perioperative exploration to have a large diaphragmatic hernia allowing right intrathoracic passage of stomach and colon. The diaphragmatic defect included a wide left middle diaphragmatic Bochdalek cleft adherent to hiatal orifice due to agenesis of pillars.