[Brain tuberculoma in a 10-year-old child: the diagnosis is in the belly]. / Tuberculome cérébral chez une enfant de 10 ans diagnostiqué par biopsie d'une adénopathie abdominale.

We report the case of a 10-year-old child from Reunion Island who was hospitalized because of headaches and partial convulsive fits. The brain MRI showed several conglomerated right frontal lesions suggestive of a tumor process. This girl, vaccinated with BCG, had familial risk factors for tuberculosis and a 20-mm tuberculin intradermo-reaction. Given the palpation of an abdominal mass, a thoracoabdominal scan was done, which revealed the presence of mesenteric adenopathies. Their biopsy confirmed the diagnosis of tuberculosis without having to perform neurosurgery. A 2-month quadritherapy and a 10-month dual therapy against tuberculosis led to the disappearance of brain damage and mesenteric adenopathies, with focal epilepsy the only sequela. The tuberculosis incidence in Reunion Island (8/100,000) is comparable with the French average, but the island is surrounded by high-endemic countries. Tuberculomas were responsible for one-third of expanding intracranial lesions in Europe in 1933, and their incidence remains high in developing countries. Even though extrapulmonary or disseminated tuberculosis has become rare in children in industrialized countries, this diagnosis must be kept in mind, in spite of vaccination. In accordance with international guidelines, this case report shows the importance of a systematic extensive check-up (cervical, thoracic and abdominopelvic) when brain tuberculosis is suspected in order to find more accessible tuberculosis lesions and to avoid the side effects of a brain biopsy.

[Clinical aspects and genetic specificities of cystic fibrosis in Reunion Island]. / Aspects cliniques et spécificités génétiques de la mucoviscidose à l'île de la Réunion.

OBJECTIVES: Evaluation of the phenotype-genotype correlation of a specific mucoviscidosis mutation, "Y122X", in Reunion Island. This mutation represents 25% of our cases. PATIENTS AND METHODS: Retrospective study of a cohort of 84 children presenting cystic fibrosis (CF) during a 5-year period (1994-1998). Diagnosis was based on one or two identified genetic mutations and/or minimum two abnormal chloride sweat tests (Cl > 70 mmol/l). Follow-up of this cohort was performed in the two referral centers of the Island following the French national guidelines (INSERM U 155). RESULTS: In our population, we identified 10 mutations, of which three of them represented more than 80% of the cases: Delta F508 (51.8%), Y122X (24.4%) and 3120 + 1G --> A (4.8%). The authors report clinical significant differences in children with the homozygote mutation Y122X as compared with children presenting the Delta F508 CF-mutation: failure to thrive affecting mainly the height with, paradoxically, a relatively normal weight development, and a better pulmonary function. CONCLUSION: The frequent Y122X CF-mutation reported in "la Reunion" seems to affect mainly height in children with a relatively good nutritional outcome. This failure to thrive does not seem to be of digestive origin. These results suggest that growth gene(s) located nearby the cystic fibrosis transmembrane conductance regulator (CFTR) may have suffered the same segregation than the Y122X mutation or that clusters of this specific Caucasian population known as "petits blancs" in la Reunion are smallest for ethnic reasons.