[Incidence of mucopolysaccharidoses in Tunisia]

The mucopolysaccharidoses [MPS] are a devastating heterogenous group of lysosomal storage disorders. To evaluate the epidemiological profile of MPS in Tunisia Methods we conducted a retrospective epidemiological survey covering the period 1970-2005. Multiple sources were used to identify affected patients. Ninety six confirmed MPS cases were collected from 132 suspected cases found in the surveyed data. Of the ninety six confirmed cases. 20%were from multiplex families. Consanguinity was found in 83%of the families. The crude rate for all types of mucopolysaccharidoses was 2.3 cases in 100,000 live births. The prevalence of MPS type I, III and IV, those most frequently occurring in the collected data, were estimated at 0.63, 0.7 and 0.45 per 100.000 live births, respectively. The cumulative incidence of MPS type VI [0.3 per 105 live births] was higher than reported in European countries; but, it is likely that. The reported frequency of all types of MPS in Tunisia is underestimated

[Graves's disease in children and adolescent: study of seven cases]

In spite of its rarity in the paediatric age. Graves' disease constitutes the principal aetiology of hyperthyroidism in child. Our goal is to analyze the clinical and evolutive particularities of Graves's disease in children. We studied retrospectively seven cases of Graves' disease in children enrolled in the pediatrics department of Sousse during ten years period [1993-2002]. There were six girls and one boy [sex - ratio = 0.16] aged 4.5 to 16 years [mean age: nine years and one month].The diagnosis has been established clinically on the presence of classic symptoms of the illness associated to the biological and radiological findings. As part of research of possible associations with this illness, we observed solely in a case, in addition of Graves's disease, the coexistence of Down syndrome and coeliac disease, rarely described., -Among the HLA antigens predisposing the Graves's disease, we only found HLA B8 antigen in a patient. The evolution under antithyroid drug treatment [ATD] has been marked by fast disappearance of functional signs in all patients. However, biological and clinical euthyroiidism was more difficult to achieve. The treatment has been stopped in only one patient after 40 months period. Graves' disease is usually easy to recognize but difficult to treat. Radical treatments [thyroidectomy or radioactive iodine therapy] are indicated in second intention after having tempted ATD beforehand

[Uremic and haemolytic syndrome in children: Study of 17 cases]

In spite of its rarity, the haemolytic and uremic syndrome [HUS] constitutes the first aetiology of acute renal insufficiency [ARI] in child. The aim of this work is to analyze clinical and evolutive aspects of the HUS in child. We studied retrospectively 17 cases of HUS in child enrolled in the paediatrics' department of Sahloul Hospital during eight years period [1996 to 2003]. It is about four boys and 13 girls [sex - ratio= 0.3] aged three months to nine years [mean age: 32 months]. Typical HUS was observed in eight child and atypical HUS in the nine others which three presenting a familial form and one associated with steroid resistant nephrotic syndrome. Diagnosis of HUS was established on the classic triad of the disease [anaemia, thrombopenia and ARI] and/on by the histology. Extra-renal manifestations [neurological or digestive involvement] were observed in 11 patients. A blood transfusion was indicated in 13 patients presenting severe anaemia. Peritoneal dialysis was indicated for nine patients while three others required haemodialysis because renal insufficiency had evolved quickly to the end stage. Thirteen cases of HUS [eight typical and five atypical] have received plasma therapy during two to five days. The short-term evolution was favourable with recuperation of normal renal function in seven cases [five with typical SHU and two with atypical SHU]. Three children developed terminal renal insufficiency and were currently in haemodialysis. Five patients [four cases of atypical HUS and one case of typical HUS] died of the continuations of the ARI and/or nosocomial infection. The HUS remains a serious illness because of the risk of complications that can occur to short and long-term. Currently, the specific treatment is only recommended in patients presenting an atypical form of HUS

[Lupus nephritis in childhood: clinical and evolutive study of 14 cases]

Renal involvement is one of the most severe and frequent manifestations of the systemic lupus erythematosus [SLE]. In this study, we analyzed clinical and evolutive particularities of 14 paediatric cases of lupus nephritis [LN]. It's a retrospective study in 14 children with lupus nephritis followed-up in the paediatrics department of Sousse and Mahdia between 1983 and 2004. There were 12 girls and two boys [sex - ratio = 0.16] aged four to 14 years [mean age =10 years]. At the first presentation, we noted proteinuria in all patients with nephrotic syndrome in six cases, hypertension with variable severity in five cases, hematuria in six cases and a variable severity of renal insufficiency in six cases. Histological examination of kidney performed in 10 patients with severe nephropathy, revealed class IV glomerulonephritis in four cases, class V in two cases and class III in four cases. Thirteen patients were treated by corticosteroids associated with immunosuppressive agent in six cases. One patient had not received any treatment. Five patients were dead of the continuations of SLE complications or immunosuppressive therapy. For the other patients, one is in clinical and biological remission since six years, four are lost of view, one is in end stage renal failure, two presented relapsing evolution and one presents refractory form of LN. Lupus nephritis is severe in our patients with predominance of class III and IV. New therapeutic strategies permitted to improve the renal survival but at the cost of an important iatrogenic morbidity

Primary hyperoxaluria in children in central Tunisia

The goal of this work is to analyze clinical and therapeutics particularities of primary hyperoxaluria in children in Tunisian centre. We studied retrospectively 15 cases of primary hyperoxaluria enrolled during 9 years period [1994-2002]. It is about 2 boys and 13 girls [sex - ratio = 4.5] aged 2 month to 13 years [mean age: 4 years]. Six patients presented the infantile form and nine the juvenile form of HP. At the moment of diagnosis, renal function was normal in one patient, moderately altered in another and severely altered in the other patients. All patients had nephrocalcinosis and 6 among them radio-opaque renal calculi associated. Diagnosis of HP was established in 11 cases by hyperoxaluria and/or important hyperoxalemia or on the data of the renal biopsy and biochemical analysis of renal calculi in 4 cases. The so-called [maghrebin] mutation [Ile244Thr] sought-after in 9 children, has cannot be identified that in 2 among them. Eight patients died of the continuations of their illness. The seven other patients again in life present a terminal renal insufficiency treated by haemodialysis. No patient could benefit from organ transplantation. Primary hyperoxaluria is a very heterogeneous disease on the plan clinic that genetic. In Tunisia where it constitutes a frequent cause of end stage renal failure, prenatal diagnosis of this disease is of a big interest

Henochschonlein purpura in children: clinical and evolutive study of 122 cases

Analyze the clinical and evolutive particularities of Henoch Schonlein purpura in children. We studied retrospectively 122 cases enrolled in the pediatrics department of Sousse during 10 years period [1992-2001]. It is about 66 boys and 56 girls [sex - ratio= 1.18] aged 3 to 13 years [mean age: 7 years and half]. The diagnosis has been established clinically on the presence of cutaneous syndrome with symmetrical declivitous region purpura in all patients with articular syndrome [9 leases] and /or digestive syndrome [65cases]. Complications were variable: digestive hemorrhage [19cases], occlusive syndrome [2 cases], renal involvement at variable severity [56 cases], scrotal and testicular complications [1l cases], cardiac complications [tamponade in a case]. Henoch Schonlein purpura was associated with a primary antiphospholipid syndrome in a case, renal tuberculosis in a case and cholestatic hepatitis A in another case. All patient receeved symptomatic treatment [rest in bed +/- antalgic treatment]. Digestive rest was prescribed for 20 patients presenting severe abdominal pains with corticosteroid during 2 at 4 weeks [1-2mg/kg/d] in eight cases. Corticosteroid-cyclophosphamid association was prescribed for 2 patients with severe renal involvement; one of them benefitted of extra-renal purification. One or several relapses of Henoch Schonlein purpura were noted in 13 patients. All sick evolved favorably same those presenting renal or cardiac involvement [middle receding of 5 years]

[Indications and outcomes of surgical treatment of gastroduodenal ulcer in child and adolescent. about 45 cases]

The goal of this study was to determine the indications and assess the results of surgery in the treatment of gastro-duodenal ulcers in children and adolescents. This is a retrospective study of 45 patients operated for duodenal ulcer in Sahloul Teaching Hospital [Susa, Tunisia] over period of 14 years [1988 - 2001]. The study is about 41 boys and 4 girls aged between 8 and 18 years [mean age 15 1/2 years]. Surgery was undertaken in cases of bleeding ulcer [9 cases], perforation [26 cases], stenosis [7 cases], resistance to medical treatment [3 cases]. The after-effects were mild in 40 cases with an average hospital stay of 6 days. Later after-effects comprised ulcerous relapse [2 cases], stricture of the pyloroplasty [2 cases], an diarrhea following vagotomy combined with pyloroplasty in one case. Indications of surgical treatment of gastro-duodenal ulcers in children and adolescents are, nowadays, nearly limited to complicated forms of the illness. Outcomes of surgical treatment are globally satisfactory

[Clinical feature and course of Kawasaki disease in central Tunisia: a study about 14 cases collected over a period of three years[2000-2002]]

To analyze the clinical features and course of Kawasaki disease in central Tunisia. We studied retrospectively 14 cases of children with Kawasaki disease collected in Tunisian center during three years [2000-2002]. The study is about II boys and 3 girls [sex - ratio: 3.6/I] aged from 6 months to 8 years [mean age: 4 years]. Twelve patients had at least 5 diagnostic criteria of the illness, the two others had an incomplete form. We noted cardiac complications in seven patients treated belatedly, beyond 10 days of progression, because of atypical clinical presentations. All patients had all a middle caliber coronary aneurysm that was complicated by a thrombus in three cases, associated with pericarditis and minimal mitral insufficiency in a case and with a cardiac rhythm disturbance [block of branch] in another cease. Besides the cardiac complications, several other visceral manifestation could be noted: joint symptoms in five cases, GI tract symptoms in three cases, neuro-meningeal in two cases and urinary tract symptoms in two other cases. Specific treatment [aspirin with anti-inflammatory dose and intravenous immune globulin [IVIG]] has been instituted in all patients. The course was favorable for 12 patients with fast regression of clinical manifestation and progressive normalisation of biologic values. Two patients did not respond to the initial IVIG treatment, and had to recense received an additional course of IGIV but without clinical nor biological improvement. These two patients were treated with corticosteroids. Cardiac lesions disappeared completely in all patients even for those with thrombosis and in patients with IVIG-resistant Kawasaki disease. Only one patient had kept neurologic sequellae: aphasia, bevavioral problem's and partial epilepsy. Kawasaki disease is not rare in our region. Incomplete or atypical presentations are frequent and are a source of diagnostic delay. Coronary aneurysm due to the delay of treatment often regresses even in patients with IVIG-resistant Kawasaki disease