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. The mean age of homozygotes was 16 for females (range 2.5-40) and 12.5 for males (range 2-34). All the homozygotes had extensive xanthomatosis and showed variable clinical manifestations of coronary heart disease (CHD). Plasma total and LDL cholesterol levels averaged 18 and 16.9 mmol/l, respectively. Mean high density lipoprotein (HDL) cholesterol values were 0.48 mmol/l for males and 0.70 mmol/l for females. The mean age of the obligate heterozygotes was 44 (range 32-62 years) for mothers and 51 (range 35-80 years) for fathers. None of them had tendon xanthomas, not even the oldest, who was aged 80. Only 5 of the 27 obligate heterozygotes had developed CHD (aged 34-58). Plasma cholesterol levels varied more than twofold (4.1-10 mmol/l) and averaged 6.79 and 7.51 mmol/l for males and females, respectively. LDL cholesterol values were below the age- and sex-related 95th percentile from the Lipid Research Clinics Prevalence Study in 46% of male and 30% of female heterozygotes. The frequency of homozygotes was 1:125,000 and the minimum estimated frequency of heterozygotes was 1:165 in Central and Southern Tunisia. Only Afrikaners in South Africa and French Canadians have such high frequencies of FH.

[Ataxia telangiectasia. Clinical and biological study in 17 cases]. / Ataxie télangiectasie. Etude clinique et biologique de 17 cas.

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%). We also showed an immune function defect mainly concerning IgA, which was associated with cellular immunity abnormalities (lymphopenia, negative hypersensitivity reactions). The alpha-fetoprotein (AFP) values were high and increased in proportion to the severity of the neurologic manifestations. Thus, this parameter could be used as a diagnostic index of the illness and could be a precious indicator for the management and the evolution of these patients.

[Unusual aspects of the late manifestations of diaphragmatic hernia]. / Aspect inhabituel d'une hernie diaphragmatique à révélation tardive.

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.

[A rare cause of rectal hemorrhage in children: rectal angiodysplasia]. / Une cause rare de rectorragie chez l'enfant: l'angiodysplasie rectale.

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. Barium enema was normal. The patient was operated on, but surgery failed to find any cause for these hemorrhages. Rectal bleedings recurred, some of them resulting in severe anemia. Two further endoscopic examination were grossly negative as was inferior mesenteric arteriography. Spontaneous rectal prolapsus occurred when the boy was 4 years old. This allowed resection of all the submucosal veins of the anal canal; it was followed by complete cessation of rectal bleeding with a follow-up of 36 months. Histological examination showed several ectasias of the capillaries and veins in the submucosa and muscular layers. CONCLUSION: Angiectases can occur in a small part of the intestinal tract, and can escape detection by repeated specialized investigation.

[Screening of hemoglobinopathies and molecular analysis of beta-thalassemia in Central Tunisia]. / Dépistage des hémoglobinopathies et analyse moléculaire des beta-thalassémies en Tunisie centrale.

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. POPULATION AND METHODS: One thousand one hundred and five blood samples taken from 1987 to 1990 from healthy blood donors and 346 samples taken from 1985 to 1992 from patients were analysed. Detection of hemoglobinopathies was carried out by means of specific hematological tests and different electrophoretic and chromatographic techniques. Mutations were detected by means of the usual techniques of molecular biology. RESULTS: Sickle cell anemia and beta-thalassemia were the most frequent in the samples studied. The molecular analysis carried out on eight patients native of the Essouassi-El-Djem region point out that all these patients carry the same point mutation (IVS I nt 2: T-G) detected for the first time in 1988 in a patient native of the same region. One of these patients, aged 43, who did not suffer from anemia and did not show the usual symptoms of beta O thalassemia, had one hemolytic attack at the age of 17. CONCLUSIONS: The high number of persons carrying Hb S and beta-thalassemia trait increase the risk of appearance of homozygous forms. The presence of the same mutation IVS I nt 2: (T-G) in all beta O-thalassemic patients from Essouassi-El Djem region may indicate that it may have its origin there. The heterogeneity of clinical phenotype of these patients shows the difficulty of establishing a unique strategy of prenatal diagnosis by DNA analysing which can be applied in all cases.

[Infantile visceral leishmaniasis: difficult diagnosis in cases complicated by hemophagocytosis]. / Leishmaniose viscérale infantile: un diagnostic difficile en cas d'hémophagocytose associée.

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. After three months of clinical deterioration and apparition of active hemophagocytosis, both bone marrow aspiration and specific serology for visceral leishmaniasis became positive. The boy was given sodium stibogluconate for 20 days; he improved gradually with complete and definitive remission. CONCLUSION: Diagnosis of visceral leishmaniasis may be difficult, even in countries where this condition is relatively frequent; the association with hemophagocytosis is possible and does not constitute a poor factor of prognosis if specific therapy is proposed.

[Meningococcosis in Tunisia. Apropos of 80 cases]. / Les méningococcies en Tunisie. A propos de 80 cas.

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%). Improving level of living, good prophylaxy based on spiramycin, development of use of meningococcal vaccine are advisable means to control epidemic outbreaks.

[2 familial cases of homocystinuria one of which revealed by fatal hypertensive encephalopathy]. / A propos de deux cas familiaux d'homocystinurie dont l'un révélé par une encéphalopathie hypertensive mortelle.

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). The sister, aged 10, had psychomotor retardation and anomalies of both lenses. Chromatographic studies of serum and urine amino acids confirmed the diagnosis of homocystinuria. The form was pyridoxine-sensitive as shown by the results of therapy with pyridoxine and folates. We suggest that homocystinuria, although infrequent, should be routinely looked for in every child with a thrombotic event since a pyridoxine-folate combination is successful in half the cases, preventing the development of complications especially when initiated early.

[Infantile cystinosis. A new Tunisian case]. / Cystinose infantile. Une nouvelle observation tunisienne.

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. Cystinosis is severe because it inevitably leads to renal failure. Much hope is currently placed in the use of cysteamine to delay this and other complications. At present, early antenatal diagnosis during the first ten weeks of pregnancy is needed in high-risk families to allow elective termination of pregnancy within the legal time limit.

[Factors associated with low birth weight in Tunisian Sahel]. / Facteurs associés aux faibles poids de naissance dans le Sahel tunisien.

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, 57.4% of which being small for dates at term. 48% of prematures also had intra-uterine growth retardation. The average LBW was 1,913 +/- 497 g (20% of the LBW neonates had a weight below 1,500 g). Factors associated with LBW were: extreme ages of the mothers, illiteracy, working class, previous history of stillbirth or death before 1 year of age, abnormal issue of the previous pregnancy, multiple pregnancies, insufficient medical supervision and prenatal care, congenital malformations in the child. Improvement in prenatal care and adequate monitoring of at risk pregnancies might decrease the occurrence of LBW in this Tunisian area.

[Painful Tolosa-Hunt ophthalmoplegia. Apropos of a case in a child]. / Ophtalmoplégie douloureuse de Tolosa-Hunt. A propos d'une observation chez l'enfant.

Painful ophthalmoplegia occurred in a twelve-year-old boy, with repeated attacks over five years. This fits the description of Tolosa-Hunt syndrome which has only infrequently been described in children. Tolosa-Hunt syndrome combines severe lasting orbital pain and paralysis of one or more oculomotor nerves (extrinsic or intrinsic III, IV, VI). Pain is dramatically alleviated by high doses of corticosteroids, while the ophthalmoplegia improves more slowly. For some authors, this effect of corticosteroids is diagnostic. Repeated attacks occur over several years and resolve spontaneously with or without sequellae. Diagnosis can only be ascertained after careful ruling out of a general or locoregional etiology through clinical and paraclinical investigations. Differential diagnosis with ophthalmoplegic migraine may be difficult.

[Imerslund-Najman-Grasbeck anemia. Apropos of a case]. / L'anémie d'Imerslund-Najman-Grasbeck. A propos d'un cas.

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. In addition, ther were no folate deficiency, no anti-intrinsic factor antibodies and no intrinsic factor deficiency. The outcome of the disease is always favourable if parenteral administration of vitamin B12 maintained.

[Histiocytosis X and sclerosing cholangitis]. / Histiocytose X et cholangite sclérosante.

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.