Infantile scurvy: two case reports.

Background. Ascorbic acid (vitamin C) is necessary for the formation of collagen, reducing free radicals, and aiding in iron absorption. SCURVY, a disease of dietary ascorbic acid deficiency, is uncommon today. It still exists in high risk groups including economically disadvantaged populations with poor nutrition. The incidence of SCURVY in the pediatric population is very low. Cases Report. Here we report two cases of SCURVY revealed by subperiosteal hematoma in children with cerebral palsy and developmental delay. Conclusion. SCURVY is extremely rare in children. Musculoskeletal manifestations are prominent in pediatric SCURVY. Multiple subperiosteal hematomas are an important indicator for diagnosis.

Nail-patella syndrome associated with short stature: a case series.

Introduction. Nail-patella syndrome (NPS) is a rare genetic disorder that is characterized by a pleiotropic malformation affecting the nail, the skeleton, and occasionally the central nervous system and the kidneys. Case Presentation. We report two paediatric cases, which are of two sisters, who aged, respectively, two and five years. They are admitted to explore short stature. The initial clinical examination and radiologic findings confirmed the diagnosis of Nail-patella syndrome. Conclusion. Skeletal, ophthalmologic, and renal involvements were mostly associated with NPS. The association with short stature was exceptional.

Anti-Saccharomyces cerevisiae antibodies are frequent in type 1 diabetes.

Anti-Saccharomyces cerevisiae antibodies (ASCA) have been described in many autoimmune diseases in which there is an increased intestinal permeability. Also in type 1 diabetes (T1D), there is an increased intestinal permeability. Since no data are available about ASCA in T1D, we evaluated, retrospectively, the frequency of ASCA in this disease. ASCA, IgG, and IgA, were determined by ELISA in sera of 224 T1D patients in which coeliac disease has been excluded and 157 healthy control group. The frequency of ASCA (IgG or IgA) was significantly higher in T1D patients than in the control group (24.5% vs. 2.5%, p < 10(-7)). The same observation was found in children and in adult patients when we compare them to healthy children and blood donors group respectively. Compared to children, adult patients with T1D showed significantly higher frequencies of ASCA of any isotype (38% vs. 13.7%, p < 10(-4)), both ASCA IgG and IgA (12% vs. 1.6%, p = 0.002), ASCA IgG (35% vs. 9.8%, p < 10(-5)) and ASCA IgA (15% vs. 5.6%, p = 0.001). The frequency of ASCA was statistically higher in females of all T1D than in males (30.8% vs.17.7%, p = 0.03), in girls than in boys (22% vs.6.2%, p = 0.017), and significantly higher in men than in boys (35.7% vs. 6.2%, p < 10(-4)). The frequency of ASCA IgG was significantly higher than that of ASCA IgA in all T1D patients (21% vs. 9.8%, p < 0.002), in all females (26.5% vs. 10.2%, p < 0.002), in women (37.9% vs. 12%, p < 0.001). The frequency of ASCA was significantly higher in all long-term T1D than in an inaugural T1D (29% vs. 14.5%, p = 0.019). The same observation was found in adults (45.8% vs. 17.8%, p = 0.01). In long-term T1D patients, ASCA were significantly more frequent in adults than children (45.8% vs. 14.5%, p < 10(-4)). The frequency of ASCA IgG was significantly higher in long-term T1D than in an inaugural T1D (25.2% vs. 11.6%, p = 0.03). Patients with T1D had a high frequency of ASCA.

Thyroid-related autoantibodies in Tunisian patients with coeliac disease.

BACKGROUND: The aim of our study was to evaluate, retrospectively, the frequency of anti-thyroid antibodies (ATA) in coeliac disease (CD) patients. METHODS: ELISA was used to determine the frequency of anti-thyroid stimulating hormone receptor antibodies, thyroperoxidase antibodies and thyroglobulin antibodies in sera of 104 adult patients with CD. Patients were divided into three groups: group I, 56 untreated patients; group II, 21 patients on a strict gluten-free diet (GFD); and group III, 27 patients who did not comply with a GFD. Sera of 189 healthy blood donors served as controls. RESULTS: Out of 104 patients with CD, five (4.8%) had ATA. The frequency of ATA found in the control group (1.6%) was not significantly different from that found in all CD patients. However, the frequency of ATA in CD patients on a GFD was significantly higher than that found in the control group (8.3% vs. 1.6%, p=0.03). The frequency of ATA in groups I, II and III was 1.8%, 9.5% and 7.4%, respectively. CONCLUSIONS: ATA were found in CD patients even on a GFD.

Screening by anti-endomysium antibodies for celiac disease in Tunisian children with type 1 diabetes mellitus.

AIM: Celiac disease (CD) and type 1 diabetes mellitus (DM1) can frequently coexist, presumably due to a common genetic predisposition. The present study was designed to evaluate the frequency of CD among Tunisian children with DM1. PATIENTS AND METHODS: A total of 205 diabetic children (92 girls, 113 boys, age range 6 months-15 years, median 11 years) were screened for CD by determination of IgA anti-endomysium antibodies (EMA). RESULTS: EMA were positive in 17 out of 205 (8.3%) children with DM1. The median age of DM1 at onset was significantly lower in patients with EMA than those without EMA (P<10(-7)). In 13 of 17 EMA-positive patients, duodenal biopsy could be performed and a destructive type of CD was confirmed in 11 of them: 8 patients showed total villous atrophy, 3 patients showed a partial villous atrophy. The other two patients showed a normal histological picture with normal number of intraepithelial lymphocytes. Parents of the remaining EMA-positive children refused endoscopy. Thus the prevalence of biopsy-proven CD was 5.3% (11/205). It was 7.6% (7/92) in girls and 3.5% (4/113) in boys but the difference was not statistically significant. Seventy three percent of patients with CD were asymptomatic. CONCLUSIONS: The prevalence of clinically unrecognized CD, found by EMA screening, is high in Tunisian children with DM1. We suggest that children with diabetes should be screened for CD.

Anti-Saccharomyces cerevisiae antibodies in coeliac disease.

OBJECTIVE: To evaluate, retrospectively, the frequency of anti-Saccharomyces cerevisiae antibodies (ASCA) in patients with coeliac disease. MATERIAL AND METHODS: ASCA, IgG and IgA were determined by ELISA in sera of 238 coeliac patients. The patients were divided into three groups: group I - 125 untreated patients; group II - 42 patients under a strict gluten-free diet (GFD); and group III - 71 patients who did not comply with a GFD. Sera of 80 healthy blood donors served as controls. RESULTS: The frequency of ASCA (IgG or IgA) was significantly higher in untreated coeliac patients than in the control group (27.2% versus 3.7%, p=10(-5)). In 238 coeliac patients, the frequency of ASCA was significantly higher in adults than in children (35.4% versus 21.1%, p=0.01). In group III, the frequency of ASCA was significantly higher in adults than in children (60% versus 26.1%, p=0.004). In 238 coeliac patients, ASCA IgG were significantly more frequent than ASCA IgA in both children (19% versus 6.3%, p=0.001) and adults (33.3% versus 12.5%, p=5.10(-4)). In children, ASCA IgG were negative in group II and positive in 20% of group I (p=0.01). In adults, the frequency of ASCA IgG was also significantly lower in group II than in group I (9.5% versus 34%, p=0.03). CONCLUSIONS: A high frequency of ASCA has been found in coeliac patients. The frequency of ASCA was not statistically different between patients with successful adherence to GFD and healthy controls.

Anti-thyroid-stimulating hormone receptor antibodies determined by second-generation assay.

BACKGROUND: The aim of our study was to determine the frequency of anti-thyroid-stimulating hormone (TSH) receptor antibodies (TRAb) in Tunisian patients with Graves' disease (GD) and to compare the validity of TRAb to that of thyroperoxidase (TPO-Ab) and thyroglobulin antibodies (TG-Ab). METHODS: ELISA was used to determine the frequency of TRAb, TPO-Ab and TG-Ab in sera of 190 patients with GD. Patients were divided into four groups: those with untreated active GD (group A, n=71), those receiving treatment with anti-thyroid drugs (group B, n=85), those in relapse (group C, n=15) and those in remission (group D, n=19). Sera of 100 healthy blood donors served as controls. RESULTS: The sensitivity of TRAb for the diagnosis of GD (95.8%) was significantly higher than that of TPO-Ab (73.2%) and TG-Ab (42.2%) (p=0.0005 and p<10(-7), respectively). The positive rate for TRAb was lower in group B than in group A (70.6% and 95.8%, respectively; p=0.0001). The levels of TRAb were significantly higher in group A than in group B (mean 30.1 and 14.2 IU/L, respectively; p=0.006). CONCLUSIONS: TRAb, but neither TPO-Ab nor TG-Ab, is valuable in the diagnosis and management of patients with GD.

Screening for celiac disease in Tunisian patients with Graves' disease using anti-endomysium and anti-tissue transglutaminase antibodies.

OBJECTIVE: Celiac disease (CD) can be associated with autoimmune thyroid diseases. The aim of this study was to screen for CD in patients with Graves' disease in Tunisia. PATIENTS AND METHODS: Sera from 161 patients with Graves' disease were tested for IgA class anti-endomysium antibodies (AEA) using indirect immunofluorescence on cryostat sections of human umbilical cord and for IgA class anti-human tissue transglutaminase antibodies (AtTG) by ELISA. RESULTS: AEA were positive in 6 out of 161 (3.7%) patients with Graves' disease and all 6 patients were also positive for AtTG. Four of these 6 patients with positive serological markers of CD underwent duodenal biopsy; three had marked villous atrophy, one has normal histological picture and two did not agree to undergo biopsy. The prevalence of biopsy confirmed CD in patients with Graves' disease was 1.86% (3/161). CONCLUSION: Patients with Graves' disease are at substantial risk of CD and therefore antibody screening for CD may be included in the work-up of these patients. Either AEA or AtTG may be used.

[Profile of antimicrobial resistance of agents causing urinary tract infections in children]. / Sensibilite aux antibiotiques des germes responsables d'infections urinaires de l'enfant.

OBJECTIVE: The management of urinary tract infection in children faces the problem of the emergence of resistant strains to antibiotics. The aim of this study is to precise the frequency of the different germs and their susceptibility to antibiotics. METHODS: We report a retrospective study concerning 200 cases of urinary tract infection hospitalised in the paediatric department of Monastir between January 1995 and December 2000. There were 58 boys and 142 girls aged between two months and 14 years with a mean age of 5 years. The frequency of urinary tract infection is 1.85%. RESULTS: The most common causative agent is Escherichia coli in 75.5% of cases, followed by Proteus mirabilis (10%) then by Klebsiella pneumoniae (6%). Escherichia coli is predominant in girls, whereas Proteus mirabilis and Klebsiella pneumoniae are likely encountred in boys. Of all the strains, 96% are resistant to ampicillin, amoxicillin and cefalotin, 67% to amoxicillin + clavulanic acid and 34% to cotrimoxazole. A resistance to ampicillin, amoxicillin and cefalotin is noted in 96% of the germs. The resistance is of 67% for amoxicillin + clavulanic-acid and of 34% for cotrimoxazole. However, third generation cephalosporins and aminoglycosides remain usually active on the majority of strains incriminated in these infections a part from Pseudomonas.

[Idiopathic nephrotic syndrome in children: report of 57 cases]. / Le syndrome nephrotique idiopathique de l'enfant: a propos de 57 observations.

The aim of this study was to analysis epidemiological, clinical, biochemical and histopathological profile of INS in children and to document their management and their final course. A retrospective study of 57 children with INS hospitalized in the pediatric department of Monastir hospital from the 1st of January 1989 to the 31 th of December 1999 was conducted. The annual rate was of 3,2 cases 1000 admissions, sex ratio was of 1,28 with 32 boys and 25 girls. The mean age at the onset of the affection was of 5 years and 3 months. The renal biopsy was performed in 18 children. The histological finding were a minimal change histology in 50% of cases, a focal segmental glomerulosclerosis in 33% of cases and membrano-proliferative glomerulonephritis in 11% of cases. A cortico-therapy was initiated in all children. 87,5% of them were steroid sensitive. 22,4% of patients had steroid dependent nephrotic syndrome and 12,5% of patients had steroid resistant nephrotic syndrome. All children steroid resistant underwent immunosuppressive therapy; however chronic failure was observed in 57% of them. After a mean follow up period of 46 months, recovery was obtained in 48,2%, complete remission in 28,5% and death in 5,3% of cases.