Ataxia-telangiectasia in the south of tunisia: a study of 11 cases

Background: Ataxia-telangiectasia [A-T] is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, X-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy

Aim: We performed this study in order to describe clinical, immunological and molecular features of patients with AT followed in the south of Tunisia

Methods:we performed a retrospective study [1996-2012] in the south of Tunisia about all cases of A-T in order to describe their clinical, immunological and molecular features

Results:11 cases of AT were found. The mean age at onset of symptoms was 20 months with extremes varying from 3 months to 4 years. The median time to diagnosis was 3.6 years [range: 0-12 years].The main clinical feature of cerebellar syndrome, ataxia, was present at diagnosis in 8 patients and occurred at mean ages of 2.8 years. Ocular telangiectasia occurred at a mean age of 3.9 years [extremes: 3 months and 7 years]. Recurrent sino-pulmonary infections that affected 7 children occurred at the mean age of 4.3 years. The most common humoral immune abnormality was serum IgA deficiency. Lymphopenia was found in 7 cases and lack of CD4 T in 6 cases. Cytogenetic analyses showed chromosomal instability in all children and a translocation [7-14] in two patients. A molecular diagnosis established in 6 patients from 4 families showed 5 different mutations of ATM gene. After an average decline of 5 years and 6 months, 7 patients died of severe pulmonary infection. Among them, 3 were ATM mutated

Conclusion: Morbidity and mortality among patients with A- T are associated with ATM genotype

[Primary immune thrombocytopenia in childhood: a regional study in the south of Tunisia]

The primary immune thrombocytopenia [ITP] in children has a favorable evolution in most of cases. Describe the epidemiological and therapeutic data and the outcome of primary immune thrombocytopenia in our patients and propose a treatment plan to standardize the management of this disease in our region. We conducted a retrospective study of 140 cases of primary immune thrombocytopenia collected in department of pediatrics and hematology of Hedi Chaker hospital during a period of 15 years. Patients who had a platelet count < = 20 000 and / or mucosal or troublesome lifestyle hemorrhage were treated. The mean age was 6 years 7months with extremes varying from 3 months to 15 years. The bleeding manifestations were dominated by cutaneous bleeding in the form of petechiae or bruise [100%]. Epistaxis and gingivorragia were noted in 32,9% and 25,7% of the cases respectively. The most of patient were treated with corticosteroids [79%]. Intravenous immunoglobulin was associated with corticosteroids in 7%. An acute ITP occurred in 94 cases [67%] and a chronic ITP in 30 cases [21%]. In the recently diagnosed ITP, the response delay under association Intravenous immunoglobulin and corticoids is shorter than that of corticoids alone, but the high cost of Intravenous immunoglobulin associated with their immediate side effects compels us to recommend corticoids as a first line of treatment

[Pediatric Crohn's disease in Tunisia]

Crohn's disease occur mainly in adults. However, pediatric onset forms are not rare and have many characteristics.To study clinical, diagnostic, therapeutic and evolutive characteristics of crohn's disease in tunisian children. Retrospective multicenter study conducted in 10 pediatric departments on a period of 10 years [2000-2008]. 43 children were included. The sex-ratio was 1.68. The mean age at the onset of the symptoms was 11 +/- 2.3 years [5-16 years]. The age of onset was inferior to 10 years in 25% of the children. The delay before management was superior to 1 year in 25% of cases. The initial symptoms were dominated by diarrhea [95%]. Perineal manifestations were present at diagnosis in 30% of children and extra-digestive manifestations in 53%. Ileocolonic localization was the most frequent [46%]. The initial disease flare was moderate in 83% of cases. The treatment was medical in 77% of cases, nutritional and medical in 18.5%. Maintenance therapy was instituted in 86% of cases and consisted essentiallay in azathioprin [62%]. The mean follow-up was 3 years and 4 months. 60% of the children had at least one acute flare. During evolution, 7% of children had anoperineal surgery and 11% an intestinal resection. Crohn's disease seems rare in Tunisia. The time of diagnosis is often delayed. The management is based on immunosuppressive therapy and nutritional support

[Primary immunodeficiency disorders in 51 cases]

Primary immunodeficiency disorders [PID] are a heterogeneous group of diseases, characterized by an increased susceptibility to infections. To determine the frequency of PID in south of Tunisia to collect information on clinical experience with these disorders. Over a period of 16 years [1995 - 2010], primary immunodeficiency was confirmed in 51 patients [31 boys and 20 girls]. The immunological investigation included a study of specific and/or non specific humoral and cellular immunity. These 51 patients belonged to 47 families among which 37 were consanguine [80%]. The immunological investigations revealed a cellular or combined immunodeficiency in 21 cases, with a majority of ataxia-telangiectasia syndromes [11 cases], HLA class II deficiency [9 cases]. A predominant antibody defect was found in 3 patients and a chronic granulomatous disease in seven cases. Deaths occurred So far in 19 patients [37 %]. PID are relatively frequent in Tunisia, probably because of the high rate of consanguinity among the general population. The distribution of the different groups of primary immunodeficiencies is characterized by high frequency of ataxia - telangiectasia and HLA class II deficiency

[Primary distal renal tubular acidosis in children in the south of Tunisia: study of 15 cases]

Primary distal renal tubular acidosis in children [RTA] is characterized by metabolic acidosis due to defect in urinary excretion of hydrogen [H+] in the distal tubular. To report the epidemiological, clinical, therapeutic and evolutionary of distal RTA in our patients. Patients and methods: We conducted a retrospective study of all cases of distal RTA collected in the department of pediatrics of Hedi Chaker University hospital in the south of Tunisia, during a period of 23 years [1988-2010]. We studied the epidemiological, clinical, biological, evolutionary and therapeutic data. During the study period 15 cases of distal RTA were collected. The average age was 6 months [1 month -2 years]. Most common presenting symptoms were vomiting [8cases], failure to thrive [4cases], lack of appetite, polyuria-polydipsia syndrome [1case] and urinary infection [2cases]. The clinical examination showed staturoponderal delay [9 cases], dehydration [6 cases], signs of rickets [3 cases] and polyuria [10 cases]. Biological data showed high urine pH in the presence of metabolic acidosis in 11 cases, hypokalaemia in 10 cases and hypercalciuria in all cases. Urine acidification test with ammonium chloride was performed in 4 cases, the urinary pH was always higher than 5.5 in all cases. Ammoniuria performed in 9 cases was less than 40mmol/l. Radiological investigation objectified a nephrocalcinosis in fourteen patients and signs of rickets in three cases. Deafness was found in three patients. Genetic study performed in two cases showed mutation of ATP6V1B1 gene. The medical treatment involved an alkali load. Long-term outcome was favorable in 7 cases. The distal renal tubular acidosis is a rare pathology in our country but probably under diagnosed. The clinical gravity of this disease and the risk of evolution towards the terminal renal insufficiency justify an antenatal diagnosis to establish a neonatal management or propose a therapeutic interruption of the pregnancy if the distal RTA is associated with a severe pathology

[Idiopathic steroid-resistant nephrotic syndrome in child: Study of 20 cases]

Idiopathic steroid-resistant nephrotic syndrome [ISRNS] is rare and represents a significant therapeutic dilemma for paediatricians and paediatric nephrologists.To analyze characteristics of the ISRNS in the child. Retrospective study of 20 cases of ISRNS enrolled in paediatric department of nephrology in Sahloul hospital [Tunisia] between June 1993 and December 2007 [14 years period]. There were eight girls and 12 boys [mean age: 5.8 +/- 3.7 years] originating from the center or the south of Tunisia. Eight of them had a minimal-change disease [MCD], 11 a focal and segmental glomerulosclerosis [FSGS] and one a mesangioproliferative glomerulonephritis [MePGN]. In this group, no family form could be identified. All patients were treated by cyclosporine associated with low dose of steroid. We noted a complete remission [CR] in nine cases, partial remission [PR] in three cases and no response to cyclosporine in eight cases. Among patients with CR, six presented MCD and three a FSGS. In this group, we observed relapse of nephrotic syndrome in six cases. End stage renal disease [ESRD] was noted in 10 patients of which five not responded to cyclosporine, two initially having presented a RC and three having since the beginning a PR. Among them, two only could be grafted; one relapses on transplant was observed with a single patient initially presenting a secondarily transformed MePGN in FSGS. Our study confirms the clinical, histological and evolutive heterogeneity of idiopathic steroid-resistant nephrotic syndrome. Although there is any therapeutic consensus in this domain, cyclosporine remains indicated in first intention in sporadic forms of ISRNS. On the other hand, renal transplantation constitutes the only therapeutic alternate in genetic forms that constantly evolve at ESRD

Cholelithiasis in children: a single centre experience

Cholelithiasis is a rare finding in children, even though recent series show increased detection of this disease. Our objective is to describe epidemiological aspects, clinical aspects and aetiologies as well as to evaluate the management of cholelithiasis in our centre; a paediatric hospital in Sfax in Tunisia. A retrospective study was performed in children with a diagnosis of cholelithiasis between 1979 and 2008 in the paediatric department of H‚di Chaker University Hospital [Sfax Tunisia]. Cholelithiasis was detected in 19 patients, including 9 males and 10 females. The median age at diagnosis was 7.8 years [range: 6months to 15 years]. The associated conditions were haemolytic diseases in seven cases; hepatobiliary diseases in five; growth hormone deficiency in two; and dehydration. Down syndrome, immunoglobulin A deficiency and hypocalcaemia in one case. However, in one patient no associated condition was detected. Ultrasound was used for diagnosis in all the patients. Thirteen patients had no cholelithiasis associated symptoms and 6 patients were symptomatizing. The most frequent symptoms were abdominal pain, either with or without vomiting or jaundice. Thirteen patients underwent surgery [open cholecystectomy in seven and laparoscopic cholecytectomy in six patients]. In a single patient, immediate surgery was indicated but was not possible because of haemodynamic instability. Cholelithiasis is an increasingly recognized disease in children. It is often associated with chronic haemolysis and hereditary hepatobiliary disease in Tunisia. Even though it is more frequently non-symptomatizing, the gallstones must be removed in the majority of cases

[Type I Crigler Najjar syndrome in Tunisia; a study of 30 cases]

Crigler-Najjar syndrome is a rare metabolic disorder characterized by severe unconjugated hyperbilirubinemia resulting in deficiency of bilirubin uridine diphosphate [UDP] glucuronosyltransferase activity in the liver. To study the clinical, genetic therapeutic aspects and the outcome of Crigler Najjar type 1 in Tunisia. This is a retrospective report of Crigler Najjar cases who were hospitalized in pediatric department of Hedi Chaker hospital during 21 years [from 1st January to 31 December 2006]. Our study included 30 cases of Crigler-Najjar syndrome; there were 10 females and 20 males [sex ratio = 2]. The mean age of our patients was 41 days [4 days - 9 months]. All patients were presented with intense jaundice. Sixteen patients had neurologic disorders since admission. Genetic analysis was performed in 9 patients; we identified the same mutation in all cases: -C1070>G in exon 3 of the UDP glucuronyl transferase. Concerning therapeutic measurements, conventional phototherapy was used in all patients. A fatal out come was observed in 28 case; they died of kernicterus. Crigler-Najjar syndrome is a serious disorder which, when not treated, ultimately leads to brain damage [bilirubin encephalopathy] and death. That's why we must promote prenatal diagnosis and genetic council especially because of the big frequency of consanguinity in our country

[Traumatic head injury in children in south Tunisia epidemiology, clinical manifestations and evolution. a propos 454 cases]

To determine epidemiological, causes, clinical and Para clinical manifestations and outcome in children with traumatic head injury in south Tunisia. A retrospective study over a 8 year period [1997 - 2004] of 454 children's with head injury admitted to the Intensive Care Unit [ICU] of a university hospital [Sfax-Tunisia]. Basic demographic, clinical, biological and radiological data were recorded on admission and during the ICU stay. Mean age [SD] was of 7, 2 - 3, 8 years. The main cause of trauma was traffic accidents [69, 4%]. There were a predominance of male patient's with a sex-ratio of 2, 21. The Score of coma of Glasgow adapted to the child, was on average from8-3 points. Extra-cranial pathology was present were observed in 38, 9%. The cerebral CT-Scan performed on admission for all patients was pathological in 86, 3% of the cases. The most observed lesions were meningeal Haemorrhage [35, 2%] and the cerebral contusion [34, 5%]. According to the " Traumatic Coma Dated Bank classification " we noted a high proportion of type 2 group[46%]. Secondary systemic insults were observed in 377 children [83%]. Evolution was marked by the death of 82 children [18%]. Among survivors, a good recovery was observed in 229 children [50%]. In Tunisia, head injury is a frequent cause of hospitalization. It is essentially involved in traffic accidents. The short term prognosis is poor with a high [18%] mortality. Prevention is highly advised

[Histological features of celiac disease in south Tunisia: a study of 114 paediatric cases]

To report the histological features of celiac disease in a paediatric population originating from south Tunisia. A retrospective study of a series of duodenal biopsies from 114 children with celiac disease diagnosed over a period of 6 years [from January 1999 to December 2004]. The diagnosis was confirmed by histological results, serological studies and clinical response to gluten free diet. The average age of patients was of 6.2 years [range 6 months-15 years]. Sex ratio was 0.71. Symptoms were dominated by chronic diarrhea [48%], weight loss [50%] and anemia [20.1%]. Histological findings showed an intraepithelial lymphocytosis [Marsh type 1] in 12.2% of cases, type 2 was present in 1.7% of cases and type 3 [villous atrophy] in 86% of cases. A treatment with a gluten-free diet was indicated for all patients, only the cases who haven't presented a clinical amelioration [11 cases] have beneficed a control biopsie; a villous atrophy was persistent in 80% of this patients. Histological features in duodenal biopsies for the diagnosis and the follow-up of patients with coeliac disease. This allows an appropriate treatment and prevents further complications

[Epidemiologic, clinic and allergologic profile of atopic dermatitis in south Tunisia]

Atopic dermatitis [AD] is the collection of the cutaneous inflammatory manifestations which are chronic or repetitive associated with the other atopic diseases. The prevalence of the AD varies from one country to another. The aims of this work is to study the allergolicol, clinical and epidemiological profile of the AD in the south of Tunisia. our study is prospective about 100 cases reported in a period of 18 months. The diagnostis was carried on the criteria of Hanifin and Radjka. For every patient we studied the biographical data and the clinical manifestations of AD. Allergoloigical explorations [pricks-tests] were carried out. the overage of the patients was 104 months with extremes of 5 moths and 43 years. 65% of our patients were men. At the beginning the average was 61 months with extremes of 2 months and 37 years. 55 patients had antecedents of family allergy and 34 had antecedents of personal allergy. The former preceded the AD in. 28 cases. We didn't note any significant relation between the existence of familial allergy and the severity of the AD. In the statement, the principal factor was the contact with the house dust [33 cases], the duration of maternal breastfeeding [average 13.7 months] didn't influence neither the SCORAD, nor the beginning age of the AD. The date of beginning of food diversity [overage 6.16 months] didn't significantly influence the severity of the illness. The clinical aspect was a sharp eczema in 71% of the cases according. To the SCORAD score. The AD was judged to be weak in 5 cases, moderate in 68 cases and severe in 27 cases. The number of rise per year varied from one rise [75 cases], to more then 6 rises per year [6 cases]. The evolution was chronic in 6 cases. The pricks test showed to be positive for the accariens in the group of aeroallergen in 9 cases among the 35 cases tested, and positive for the whole egg in the group of trophallergen in 5 cases among the 13 cases tested

Beneficial effects of Antimalarials in the Treatment of Generalized Granuloma Annular in children

Granuloma annulare is a polymorphic granulomatous disease of the skin. It has a chronic course and affects mainly children and young adults. We report two cases of generalized granuloma annulare in children successfully treated with antimalarials.Two children, 6 and 12 years of age, without clinical history, presented with multiple granuloma annulare lesions which did not respond to potent topical steroids. Blood glucose level was normal. These lesions responded to small doses of antimalarials. No side effects were noticed.Compared with other drugs, with potential important side effects for children. Small doses of antimalarials might be beneficial in the treatment of generalized granuloma annulare

syndrome neprotique idiopathique corticoresistant de l'enfant. Etude de 14 observations

Cortico-resistent nephrosis represent 10% of idiopathic nephrosis in nephrosis in children and progresses in almost half of the cases to end-stage renal failure. 14 cases of cortico-resistant idiopathic nephrotic syndrome, collected over a period of 13 years [1990 - 2002], are reported. This study involved 10 boys and 4 girls, aged 8 years on average. A history of allergy was present in two cases. Two other children had a family history of cortico-resistant nephrosis [CRN]. Consanguinity was found in 6 patients. The diagnosis of cortico-resistant idiopathic nephrotic syndrome [CRINS] was suggested by oedema in all cases. Two patients had a transitory high blood pressure and 5 others had a macroscopic hematuria associated with oedema. Laboratory studies confirmed the diagnosis of nephrotic syndrome, which was severe in 10 cases, and revealed a transitory renal insufficiency in 5 cases, a hyperlipidemia in 3 cases and signs of hyperaldosteronism in 12 cases. Renal biopsy practised in all patients shaved small glomerular lesions in 6 cases, a focal and segmental hyalinosis in 8 cases, one of which was associated with chronic tubulo-interstitial lesions. Treatment was based on alkylanting agents in 11 cases [cyclophosphamide in 6 cases and chlorambucil in 5 cases] and cyclosparine in 6 cases. 4 years later on average, the course was marked by complete remission in one case, relapse of the nephrotic syndrome in 3 cases, persistant CRINS without end-stage renal failure in 4 cases and progression to end-stage renal failure in 4 cases

mucoviscidose chez l'enfant: Experience d'un service Tunisien de pediatrie generale

Cystic fibrosis was regarded a long time as exceptional in the Nord Africaine population and in particular in Tunisia what was at the origin of the ignorance of its various diagnostic and 'therapeutic aspects in our country. Nevertheless, with the development of the means of the diagnosis, several cases of cystic fibrosis were diagnossd these last years what will pose true problems of assumption of responsibility of these children like illustrates it well our experiment in the pediatric department of Sfax university hospital. In 10 years going of 1991 to 2000 we reported 7 cases of cystic fibrosis in the peditric department of Sfax university hospital. Our patients are 3 boys and 4 girls. The age of revelation of the disease varied from 3 months to 14 years with 4 years and 10 months an average age. All our patient had a respiratory symptomatology in the Foreground. The evolution was marked by the death of 4 patients at an average age of 5 years and half whereas the 3 surviving patients for the moment are more or less balanced on the nutritional level, digestive and respiratory. Cystic fibrosis is not exceptional in our area, its assumption of responsibility therapeutic is difficult, and it requires the collaboration of several experts and a good compliance of the child and of his family

Retard de croissance par deficit en hormone de croissance [e'tude de 16 observations]

Growth hormone deficiency is one of the scarce statural backward causes. It is difficult to make a diagnosis. The purpose of growth hormone treatment is to reach a final normal height and to avoid hypoglycemia after effects. We give a retrospective account of 16 children [11 boys and 5 girls] who have a growth delay due to a total growth hormone deficiency confirmed by the stimulation tests and who have also been given benefit of a biosynthetic growth hormone from 1990 to 1999. the statural backwardness varies from 2.5 DS to 4DS, with an average of 3.5 DS. In all the cases it is a matter of a harmonious backwardness discovered at an average age of 6 years. The bone age has revealed an important backwardness of bone maturation average bone age of 3 years for boys and 4 years for girls. The hormone balance sheet reveals, in all the cases, a total growth hormone deficiency [GH < 5 ng/ml] combined with a corticotrope deficiency [2 cases] and thyreotrope [3 cases]. It is a growth hormone idiopathic deficiency among our patients. The growth hormone treatment has been administred at the average age of 8 years. The weekly doses were [0.4 to.8 u/kg]. The evolution was favorable with an average growth speed that has gone up from 3 cm/year before the treatment to 10 cm in the first year of the treatment and to 5.5 cm during the second year of the treatment. An average statural gain of 0.8 DS and a bone maturation gain of one year over one year treatment. The authors put into relief the importance of diagnosis criteria of growth backwardness through a GH deficiency and suggest a therapeutic diagram, and a follow up of the GH biosynthetic treatment

Profil epidemiologique et evolutif de la maladie coeliaque de l'enfant [. propos de 118 cas]

We report a retrospective study about 118 children suffering from coeliac disease hospitalized in the pediatric department of CHU Sfax in a period of 16 years [1977- 1992]. They are 70 girls and 48 boys. The initial diagnosis made on an average age of 71 months, is based on the clinical and biological symptoms and on the histological data too [total villositary atrophy = 74 cases, subtotal villositray atrophy = 44 cases]. The patients are categorized into three different groups. Group 1: composed of 75 patients who have undergone only one initial intestinal biopsy- Group 2 composed of 30 patients who have undergone two intestinal biopsies one of which is initial and the other under gluten free diet. Group 3: composed of 13 patients who have undergone three intestinal biopsies [one initial, one under gluten- free diet and one after reintooduction f ghiten].under the ghiten free diet, 94 patients are regulary examined while 24 others have disappeared. After four months of evolution, we notice the disappearance of diarrhea in 73 cases and abdominal inflation in 71 cases. A staturo- ponderal growth reappeared in 57 cases. Among the 43 patients who had a control biopsy, 28 had normal histological aspect. The provocation test is realized with 19 patients has shown a histological drop in 100% of the cases. We insist on the efficiency of an early diagnosis based on the immunological techniques in addition to the intestinal biopsy and a better information to the patients and their families so as to avoid complication and to allow a normal growth and puberty