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Abstract: Mycoplasma pneumoniae infection is associated with various manifestations involving the central nervous system but it has never been reported as a potential aetiology of opsoclonus–myoclonus syndrome (OMS) in children. Observation: We report on a case in a 4-year-old girl who presented neurological manifestations compatible with an OMS, after a respiratory tract disease. Aetiological investigations revealed M. pneumoniae infection as specific IgM were present in the serum (Elisa). Evolution after corticosteroid, intravenous immunoglobulins and macrolide therapy was favourable as clinical symptoms disappeared. After a 12-month follow-up, the patient has no neurological sequela. Conclusion: M. pneumoniae infection should be added to the list of causes to be screened in OMS. Its pathophysiology remains unknown but may involve a dysimmune postinfectious mechanism. [Copyright &y& Elsevier]

Mixed connective tissue disease (MTCD) is a systemic inflammatory disorder individualised by Sharp et al. in 1972. This entity is rare in children.Case report. – We report an exceptional case of MTCD revealed by lymphocytic meningitis in a two-month-and-a-half-old infant. The disease was diagnosed at the age of nine months when clinical symptomatology was completed by common signs of the illness (Raynaud’s phenomenon, swollen hands), systemic lupus erythematosus-like symptoms (lymphadenopathy, squamous erythema of the limbs, hepato-splenomegaly, pleuritis and ascites) and polymyositis-like findings (muscle weakness with increased serum levels of myogenic enzymes). Laboratory investigations showed an important inflammatory syndrome and the presence of speckled anti-nuclear and anti-U1RNP antibodies. Specific antibodies of the other connective tissue diseases were also positive (anti-DNA, anti-Sm, anti-SSA and SSB, anti-Scl 70 and JO1) pleading for the mixed feature of the illness. The follow-up after corticosteroid treatment was marked by clinical and biological improvement. But after five months, the patient died following a severe infectious complication.Conclusion. – Chronic lymphocytic meningitis can be part of Sharp’s syndrome even in infants. However, the diagnosis relies on the evidence of characteristic clinical and biological abnormalities of MTCD. [Copyright &y& Elsevier]

Systemic mastocytosis is rare in children and is characterized by an abnormal proliferation and infiltration of mast cells in different tissues.Case report. – We report a case of systemic mastocytosis presenting cutaneous symptoms during the neonatal period. Later evolution was characterized by systemic manifestations consisting of recurrent respiratory infections with wheezing and a digestive involvement that included abdominal pain, hepatosplenomegaly and a nodular, hemorrhagic infiltrate in a low esophagus. The diagnosis was confirmed by histology and biology, notably increased histamine concentrations in blood and urines. Improvement of the respiratory and digestive symptoms was obtained with treatment by histamine H1 and H2 receptors antagonists.Conclusion. – Respiratory manifestations and nodular infiltration of the digestive tract are rare in systemic mastocytosis. The prognosis is conditioned by complications such as malignancy and the persistence of the disease till the adult age. [Copyright &y& Elsevier]

Abstract: Introduction: Down syndrome is a favourable land to the emergence of auto-immune disease. Case record: Graves'' disease and celiac disease were diagnosed in a 16 years old adolescent with Down syndrome presenting chronic diarrhoea, important delayed development and signs of hyperthyroidism. Discussion: Celiac disease and thyroid dysfunction would be screening in patient with Down syndrome. [Copyright &y& Elsevier]

Abstract: Objective: The authors had for aim to determine the role of leukoconcentration in the diagnosis of visceral leishmaniosis in immunocompetent children. Materials and methods: A study was made on leukoconcentration in blood samples of 84 immunocompetent children presenting with visceral leishmaniosis, hospitalised in the paediatric units of Sousse and Kairouan (Tunisian center) between April 1996 and March 2005. Results: The study group included 34 girls and 50 boys (sex-ratio=1.47) aged six months to ten years. In this group, 47 patients (56%) presented with positive leukoconcentration. The number of leishmania detected ranged from 1 to 64 per slide; parasitism of PMN leucocytes was noted in nearly half of the cases. Conclusion: Parasitemia is frequent in the Mediterranean Kala-azar; therefore leukoconcentration on peripheral blood can be proposed as a first intention examination for the diagnosis of visceral leishmaniosis in immunocompetent children. [Copyright &y& Elsevier]

Observation. – A 10-year-old boy presented cholestatic hepatitis A virus infection confirmed by IGM anti-HAV antibody. Three days after admission, he presented a palpable purpuric rash on the declivous regions, arthralgia and abdominal pain. He met all criteria set by the American College of Rheumatology (ACR) for Henoch Schonlein purpura. The evolution was gradually favorable with no renal involvement (recoil of 3 years and half).Conclusion. – Henoch Schonlein purpura is an exceptional extra-hepatic manifestation of hepatitis A infection. [Copyright &y& Elsevier]

Résumé La récidive d’une méningite purulente est rare chez l’enfant. Elle survient le plus souvent sur un terrain de pathologie sous-jacente tel qu’un déficit immunitaire ou une brèche ostéo-meningée. La dysplasie cochléovestibulaire est une malformation rare de l’oreille interne qui s’accompagne de fistule cérébrospinale trans-labyrinthique et qui peut s’exprimer par un tableau de méningite purulente récurrente. Nous rapportons une observation de méningite récurrente révélatrice d’une dysplasie cochléovestibulaire chez une enfant âgée de 9 ans. La malformation a été confirmée par l’imagerie et l’enfant a pu bénéficier un traitement chirurgical. L’évolution a été favorable aucune méningite n’étant plus survenue avec un recul de trois ans. Summary Recurrent bacterial meningitis is an uncommon disease of childhood. It occurs most often in children who have an underlying predisposing disorder that can result from anatomic fistula or immunodeficiency. Cochleovestibular dysplasia is a rare malformation of the inner ear that is often associated with translabyrinthine cerebrospinal fistula and then can cause recurrent bacterial meningitis. We report an unusual case of recurrent meningitis revealing cochleovestibular dysplasia in a 9-year-old child. The malformation was confirmed by imaging and the child had surgery. The outcome was favourable with no recurrence of meningitis during the 3 years after the operation. [ABSTRACT FROM AUTHOR]

Abstract: Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid β-glucosidase. In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in 30 Tunisian patients with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing had shown that N370S was the most frequent mutation (22/50 mutant alleles, 44%), followed by L444P mutation, which is found in 16% (8/50 mutant alleles). The recombinant allele (RecNciI) represented 14%. Our findings revealed that the genotype N370S/RecNciI was mosst frequent in patients with childhood onset and it was associated with severe visceral involvement. The screening of these three mutations provided a simple tool for molecular diagnosis of Gaucher disease in Tunisian patients and allowed also genetic counselling for their family members. [Copyright &y& Elsevier]

Abstract: The glycogen storage disease type Ia (GSD Ia) is a rare inherited disorder, with autosomal recessive determinism. It is characterized by hepatomegaly, short stature and hypoglycemia with lactic acidemia. The confirmation of diagnosis is based on the enzymatic assay performed on liver biopsy. For Tunisians patients, this biochemical test is performed abroad. The aim of our study is the molecular characterization of GSD Ia in Tunisian patients and the development of a molecular diagnosis tool. Our study included 27 patients from 23 unrelated families, mutation analysis revealed that the R83C mutation is the most frequent (65%, 30/46 mutant alleles), followed by the R170Q mutation (30%, 14/46 mutant alleles). The homogeneity of mutation spectrum of GSD Ia in Tunisia allows the development of a cost effective and reliable tool for the confirmation of clinical diagnosis among suspected GSD Ia patients. [Copyright &y& Elsevier]