[Comparative study of C-reactive protein and procalcitonin in the severity diagnosis of pyelonephritis in children]. / Étude comparative de la protéine C-réactive et de la procalcitonine dans le diagnostic de sévérité des pyélonéphrites aiguës de l'enfant.

OBJECTIVE: The aim of this study is to compare two biologic parameters; C-reactive protein (CRP) and procalcitonin (PCT) in the detection of acute renal lesions assessed by DMSA scintigraphy in the urinary tract infection in child. DESIGN: In a prospective study, serum PCT, CRP and leukocyte counts were measured for children admitted, between January and December 2010, with a first episode of febrile urinary tract infection. RESULTS: Seventy-five children were enrolled in the study. Thirty-three patients had renal lesions (group A) and 42 had a normal DMSA scintigraphy (group B). The mean PCT level was significantly higher in group A than in group B (8.81 ng/mL versus 1.7 ng/mL, P=0.01). In this study, using receiver operating characteristic (ROC) curve, we identified that the optimal cut-off value with ideal sensitivity and specificity for PCT in detection of renal lesions was 0.76 ng/mL and for CRP, it was 70 mg/L. The sensitivity, the negative predictive value and the indice of Youden of the cut-off value of PCT were significantly higher than CRP (82% versus 70%; 84% versus 70% and 0.58 versus 0.25). CONCLUSIONS: This study confirmed that the serum PCT level was more sensitive and specific than the CRP in the detection of renal lesions in the first urinary tract infection in child.

[Hepatopulmonary syndrome: a complication of type 1 Gaucher disease]. / Syndrome hépatopulmonaire: une complication de la maladie de Gaucher de type 1.

Gaucher's disease is a not exceptional lysosomial disease in Tunisia. Type 1 is by far the most common one. Pulmonary involvement is considered to be rare in type 1 Gaucher's disease. Pulmonary hypertension, infiltration of the lungs with Gaucher cells, and severe hypoxemia due to intrapulmonary arterial-venous shunts, have been described in case reports and small case series. We reported the case of hepatopulmonary syndrome in a 14-year-old boy with type 1 Gaucher disease. The diagnosis of Gaucher disease was established, at 2 years age, by enzyme assay of leucocyte ß-glucosidase. The patient presented dyspnoea, digital clubbing and cyanosis of the lips. The arterial blood gas found severe hypoxaemia with PaO(2) at 56.9 mmHg. The diagnosis of hepatopulmonary syndrome, in our patient, was confirmed by demonstration of the intrapulmonary shunting using contrast-enhanced echocardiography and the technetium-99m-labeled macroaggregated albumin. The patient was treated by symptomatic measure, long term oxygen therapy because the insufficiency of the enzyme replacement therapy. Screening for hypoxemia in children with liver disease should be considered.

Digestive malacoplakia in children: case report.

Malacoplakia is a form of chronic granulomatous inflammatory reaction that rarely affects the pediatric age group. The gastrointestinal system is the second most common site for the occurrence of malacoplakia. We report the case of a 9-year-old girl who was hospitalized for abdominal pain, chronic diarrhea, and rectal hemorrhage. The endoscopic examinations and histopathology confirmed the diagnosis of intestinal malacoplakia. We successfully treated her with oral levofloxacin. This disease does not have any specific clinical or biological signs, and the diagnosis is exclusively based on histology.

[Hereditary sensory and autonomic neuropathy type IV: a report on two cases]. / La neuropathie héréditaire sensitive et autonome de type IV : à propos de 2 observations.

Hereditary sensory and autonomic neuropathy type IV (HSAN IV) is a very rare autosomal recessive disorder characterized by recurrent episodes of unexplained fever, extensive anhidrosis, total insensitivity to pain, hypotonia, and mental retardation. The absence of urticarial reaction to intradermal injection of histamine is a sign of great diagnostic value, but this is common to all types of HSAN. The most frequent complications of this disease are corneal scarring, multiple fractures, joint deformities, osteomyelitis, and disabling self-mutilations. Malignant hyperthermia and sepsis are major causes of mortality. We relate the first observations of two Tunisian children with genetically confirmed HSAN IV. Our goal is to review the clinical aspects of this mysterious neuropathy and to emphasize the peculiarities of its management. These two patients are brothers from 1st-degree consanguineous parents (cousins) with no particular medical history. The 1st patient, the family's 1st child, presented in the 1st h of life with hypotonia and persistent fever, which was refractory to antipyretics. At the age of 8 months, the patient presented recurrent febrile seizures and developed significant self-mutilations of the fingers and tongue. He died 3 months later in a context of multivisceral failure from sepsis and malignant hyperthermia. The 2nd patient, currently aged 4 years, was born after a normal sister. He consulted in the neonatal period for a high fever. The diagnosis of HSAN IV was rapidly suspected and genetically confirmed. In fact, this patient is homozygous for the NTRK1 gene, whereas his sister and both parents are heterozygous. Special predispositions have been taken to improve the course of the disease such as air conditioning to control hyperthermia, a dental tray to reduce the injuries resulting from self-mutilation, regular moistening of the eyes to avoid corneal drying, and chlorpromazine to control hyperactivity and reduce injuries. The good progression with all these predispositions and others underlines the importance of appropriate multidisciplinary management and close monitoring of patients suffering from HSAN IV, especially during the first 3 years of life. Indeed, mortality, behavioral disorders, and mental retardation significantly decrease after this age. New curative treatments are expected in the next decade.

[Treatment of severe hemophagocytic syndrome associated with visceral leishmaniasis]. / Traitement du syndrome d'activation macrophagique sévère associé à une leishmaniose viscérale.

The association of hemophagocytic syndrome (HS) and visceral leishmaniasis is a frequent disorder during infancy in endemic areas such as Tunisia. The range of severity of HS secondary to visceral leishmaniasis includes both pure biological forms that resolve with antimicrobial therapy and life-threatening emergencies that require specific treatment. We describe 2 cases of severe HS secondary to visceral leishmaniasis. The diagnosis of HS was based on the HLH-2004 diagnostic criteria. Therapy involved pentavalent antimonial (Glucantime) in both cases. The combination of corticosteroids with immunoglobulins, used in the 1st case, but introduced late, led to an unfavorable course and death. In the 2nd case, the specific treatment of HS was based on immunochemotherapy including etoposide and corticosteroids. Progression was favorable with a follow-up of 24 months. Etoposide containing therapeutic regimens can be proposed in severe forms of HS associated with visceral leishmaniasis.

IgA anti-actin antibodies in celiac disease.

AIMS: The purpose of this study was to determine the sensitivity and specificity of IgA anti-actin antibodies (IgA-AAA) for celiac disease (CD), to investigate their usefulness as a marker of compliance in CD patients to the gluten-free diet (GFD), and to assess the relationship between their presence in the sera of CD patients and severity of intestinal mucosal damage. PATIENTS AND METHODS: A total of 182 patients with CD were studied: 63 patients were untreated; 50 patients were following a strict GFD; and 69 patients were non-compliant with a GFD. IgA-AAA was detected using a homemade enzyme-linked immunosorbent assay (ELISA). RESULTS: IgA-AAA showed a sensitivity of 41.3% and a specificity of 71.4% for a diagnosis of CD. In children, the frequency of IgA-AAA detection was lower in those following a strict GFD (23.1%) compared with untreated patients (39.4%) and those not complying with a GFD (32.5%). In patients following a strict GFD, IgA-AAA detection was significantly less frequent in children than in adults (23.1% vs. 58.3%, respectively; P<0.001). IgA-AAA was found in 17 out of 52 CD patients with total villous atrophy (32.7%), and in one out of 11 patients with subtotal villous atrophy (9%). CONCLUSION: IgA-AAA cannot replace anti-endomysium and anti-tissue transglutaminase antibodies in the diagnosis algorithm of CD, but it can serve as a reliable marker of severe intestinal mucosal damage in CD patients.

Uveitis responding on gluten free diet in a girl with celiac disease and diabetes mellitus type 1.

A 9-year old girl with a history of diabetes mellitus type 1, presented with visual loss of the left eye. The right eye examination was unremarkable. Slit-lamp examination revealed few small and fine keratic precipitates. We noted 2+ flare in the vitreous. There was no choroiditis, papillitis or retinal vasculitis. No aetiology was found. The patient was treated by topical and systemic corticosteroids without any improvement. Celiac disease was discovered by the presence of celiac antibodies in the work-up of joint pain and diabetes mellitus type 1. Antiendomysium antibodies and anti-transglutaminase antibodies were both positive. A small bowel biopsy confirmed celiac disease. A gluten free diet was set up and corticosteroids were tapered off. Recovery of the uveitis was obvious during gluten free diet and normalized within two months.

Tracking of lipids in schoolchildren: a four-year followup, population-based study in Sousse (Tunisia).

OBJECTIVE: Dyslipidaemia, which is now seen as one of the most important cardiovascular risk factors, is becoming more common in the younger population. The aim of this study was to assess the efficacy of tracking serum lipid levels over a four-year period in an urban population of schoolchildren. METHODS: The study began in 1999 with a cohort of 789 schoolchildren. Four years later this group was resurveyed and a further 452 adolescent were recruited to the study. RESULTS: The percentages of boys who were initially in the extreme quartile for total cholesterol (TC), low-density lipoprotein (LDL) cholesterol and triglycerides were 42.5, 54.8 and 40.4%, respectively. Similarly, the percentages of girls in the extreme quartile were 62.7, 53.8 and 38.2%. Four years later, both the boys and girls were still in the extreme quartile for these parameters. Therefore, the best predictor of followup level for each of the serum lipoprotein cholesterol fractions was the corresponding baseline level. Interestingly, the next best predictor in most of the groups was change in body mass index (DeltaBMI) and smoking status. CONCLUSION: Prevention of coronary heart diseases in adults must begin early on in childhood, and should be driven by health education towards achieving a healthy lifestyle.

[Antineutrophil cytoplasmic antibodies and associated diseases]. / Anticorps anticytoplasme des polynucléaires neutrophiles et pathologies associées.

Antineutrophil cytoplasmic antibodies are classical serological markers of small-vessels vasculitis. However, they have been described in many other pathological situations. The aim of this study was to determine through our experience, the main antineutrophil cytoplasmic antibodies-associated diseases and to investigate antigen targets of these antibodies. Forty complete observations of antineutrophil cytoplasmic antibodies (ANCA) positive patients either by indirect immunofluorescence or by enzyme immunoassay were analysed. Only five (12.5%) patients have small-vessels vasculitis. Among these, antineutrophil cytoplasmic antibodies were detected only by Elisa in one patient and they were exclusively directed against bactericidal permeability increasing protein in another one. Our study confirms the presence of antineutrophil cytoplasmic antibodies in different diseases. It demonstrates that antineutrophil cytoplasmic antibodies should be investigated by Elisa when indirect immunofluorescence is negative. In small-vessels vasculitis, Proteinase 3 and myeloperoxidase are mainly but not exclusively the antigenic targets of antineutrophil cytoplasmic antibodies.

[Nasofrontal fistula and epidermoid cyst: a case study]. / Fistule et kyste épidermoïde naso-frontaux: à propos d'une observation.

Nasofrontal fistulas, also called nasofrontal dermal sinuses, are very rare and found for the most part in children. This congenital malformation may be revealed by local infection or neuromeningitis, making this a serious disorder. We report one case of nasofrontal dermal sinus diagnosed in an 11-month-old girl, which was complicated by left fronto-orbital infection. Through this case, the authors stress the role of imaging methods in confirming the diagnosis and looking for associated cysts (dermoid and epidermoid).

[Canavan disease or N-acetyl aspartic aciduria: a case report]. / La maladie de Canavan ou acidurie N-acétyl aspartique: à propos de 1 cas.

Canavan disease or N-acetyl aspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of brain. The disease is an inborn error of metabolism caused by aspartoacylase deficiency resulting from accumulation of N-acetyl aspartic acid in the brain. The authors report a case in a 10-month-old boy who presented with developmental delay and megalencephaly noticeable after 4 months of age. Magnetic resonance imaging of the brain showed diffuse white matter degeneration. The diagnosis of Canavan disease was confirmed by nuclear magnetic resonance spectroscopy and gas chromatography-mass spectrometry.

[Pneumococcal meningitis mortality in children. Prognostic factors in a series of 73 cases]. / Mortalité par méningites à pneumocoque chez l'enfant. Facteurs pronostiques à propos d'une série de 73 observations.

OBJECTIVE: Despite advances in antibiotic therapy strategies and pediatric intensive care, prognosis of Streptococcus pneumoniae meningitis remains very poor. To determine the factors associated with hospital mortality of children with pneumococcal meningitis. METHODS: We conducted a retrospective study of 73 cases of childhood pneumococcal meningitis admitted in 4 teaching hospitals in the center of Tunisia during a 8-year period (1995-2002). RESULTS: Hospital mortality was 13.7% (10 of 71 patients), and neurologic sequela were observed in 34.5% of survivors. Based on univariable analysis, five variables were associated with the outcome: Pediatric Risk of Mortality score (p < 0.001), coma (p=0.0009), use of mechanical ventilation (p=0.0001), convulsions (p = 0.0449), and shock (p=0.0085). In multivariable analysis, only 2 factors were independently associated with in-hospital mortality: Pediatric Risk of Mortality score and the use of mechanical ventilation. 11.8% of pneumococcal isolates were intermediate and resistant to penicillin. Non-susceptible pneumococcus strains to penicillin and the use of steroids were not associated significantly with the mortality rate. CONCLUSIONS: Pneumococcal meningitis remains a devastating childhood disease. Two variables were independently associated with the in-hospital death in our series (high Pediatric Risk of Mortality score, and the use of mechanical ventilation). According to these data we may recommend the inclusion of vaccination against streptococcus pneumonia in the children's immunization program in Tunisia.

[Gillespie syndrome: 2 familial cases]. / Le syndrome de Gillespie: à propos de 2 cas familiaux.

We report 2 familial cases of Gillespie syndrome in an 8-year-old girl and her brother 16 months old. They had both congenital aniridia, cerebellar ataxia and mental retardation. In the girl, pupillar dilation in the 2 eyes and delay in different milestones development were elicited at 2 years. She was summoned at the birth of her brother that had pronounced floppiness and the same ocular abnormalities. Ophtalmological exam confirmed partial and bilateral aniridia in both sibs. Brain MRI showed vermis atrophy in the girl and an hypoplasic inferior vermis in her brother. Apropos of these case reports, we make a brief update about this extremely rare genetic syndrome.

Epidemiology of dyslipidemia among schoolchildren in Sousse, Tunisia.

In Tunisia, there is no available data on the CVD risk profile in the children population, although it is well known that risk factor development takes place during childhood. We undertook an epidemiological survey based on a representative sample of 1569 urban school children of Sousse in Tunisia to assess the prevalence of hypercholesterolemia and other lipid disorders. Prevalence of hypercholesterolemia (8.1%), high level of LDL-cholesterol (3.9%), high level of Lp(a) (14.5%), hypertriglyceridemia (1.3%) and hyper Apo B (3.4%) were found. These informations will be useful to set up a regional program of Heart Health promotion in schools.

Tissue transglutaminase antibodies in celiac disease, comparison of an enzyme linked immunosorbent assay and a dot blot assay.

AIMS: The purpose of our study is to determine the sensitivity, specificity and predictive values of an enzyme linked immunosorbent assay (ELISA) and a dot blot assay for the detection of IgA class anti-tissue transglutaminase antibodies (IgA-AtTGA) and to compare these results with those of IgA class anti-endomysium antibodies (IgA-AEA), IgA class anti-reticulin antibodies (IgA-ARA) and IgA class anti-gliadin antibodies (IgA-AGA). PATIENTS: Serum samples from 143 patients (97 children, 46 adults) with untreated celiac disease (CD) confirmed by intestinal biopsy and 74 disease controls (64 children, 10 adults) were studied. Methods. - The anti-tissue transglutaminase antibodies were detected by dot blot assay and an ELISA using guinea pig tissue transglutaminase (gp-tTG) as antigen. The anti-endomysium antibodies were detected by an indirect immunofluorescence technique on cryostat sections of human umbilical cord. The anti-reticulin antibodies were also investigated by indirect immunofluorescence on cryostat sections of kidney, liver and stomach of rat. The anti-gliadin antibodies were determined by an ELISA. RESULTS: The sensitivity of an ELISA for the detection of anti-tissue transglutaminase antibodies was 86% in children and 87% in adults and the sensitivity of dot blot assay was 57% in children and 54% in adults. The specificity of an ELISA and dot blot for the detection for anti-tissue transglutaminase antibodies was, respectively, 96% and 88% lower than that of anti-endomysium antibodies (100%). The sensitivity of anti-gliadin antibodies was 97% in children and 91% in adults and their specificity was 85%. The sensitivity of anti-reticulin antibodies was 94% in children and 87% in adults. Their specificity was 100%. CONCLUSIONS: The sensitivity and specificity of an ELISA for the detection of anti-tissue transglutaminase antibodies were better than that of dot blot assay. However, this dot blot assay could screen four celiac patients who have not had anti-tissue transglutaminase antibodies by an ELISA. The sensitivity of anti-endomysium antibodies was better than that of anti-tissue transglutaminase antibodies, anti-reticulin antibodies and anti-gliadin antibodies but in children aged less than 2 years, the sensitivity of anti-gliadin antibodies was better than that of anti-tissue transglutaminase antibodies.

[Ischemic colitis and hemophagocytosis complicating Kawasaki disease]. / Colite ischémique et syndrome d'hémophagocytose compliquant une maladie de Kawasaki.

UNLABELLED: Gastrointestinal manifestations of Kawasaki disease are usually limited to stomatitis, paralytic ileus, and hydrops of the gallbladder. We report a case of Kawasaki disease complicated with hemophagocytosis and ischemic colitis. CASE REPORT: A 5-year-old girl with Kawasaki disease presented with hemophagocytosis that responded to gamma-globulin therapy. On day 4 she had abdominal pain and diarrhea. CT scan showed features suggesting ischemic colitis. Symptoms resolved on total parenteral nutrition. CONCLUSION: Ischemic colitis and hemophagocytosis are potential severe complications of Kawasaki disease.

Group A streptococci in children with acute pharyngitis in Sousse, Tunisia.

A 1-year prospective study in 2 paediatric outpatient clinics in Sousse, Tunisia, aimed to determine the presence of group A streptococci in acute pharyngitis cases and carriers, and the distribution of the serotypes and biotypes. Group A streptococci were found in 9.0% of throat swabs from 155 controls and 17.7% from 474 patients (P < 0.05). Of 43 strains isolated from patients and submitted for typing, 15 different types were identified, the most common being M75 (14 strains; 32.5%), M9 (6 strains; 14.0%), M76 (5 strains; 11.6%) and M12 (4 strains; 9.3%). Three strains were non-typeable (7.0%). Biotyping of the strains showed 3 predominant biotypes: biotype 3 (n = 14), biotype 2 (n = 11), and biotype 1 (n = 7).

Group A streptococci in children with acute pharyngitis in Sousse, Tunisia

A 1-year prospective study in 2 paediatric outpatient clinics in Sousse, Tunisia, aimed to determine the presence of group A streptococci in acute pharyngitis cases and carriers, and the distribution of the serotypes and biotypes. Group A streptococci were found in 9.0% of throat swabs from 155 controls and 17.7% from 474 patients [P < 0.05]. Of 43 strains isolated from patients and submitted for typing, 15 different types were identified, the most common being M75 [14 strains; 32.5%], M9 [6 strains; 14.0%], M76 [5 strains; 11.6%] and M12 [4 strains; 9.3%]. Three strains were non-typeable [7.0%]. Biotyping of the strains showed 3 predominant biotypes: biotype 3 [n = 14], biotype 2 [n = 11], and biotype 1 [n = 7]