Abstract: To describe the clinical presentation of 10 patients with type 3 Gaucher disease and the clinical evolution of nine of them following specific therapy regimes.
Abstract: We report the case of two brothers who returned from Madagascar presenting all the acute phase symptoms of a primary invasive Schistosoma mansoni infection, together with brain involvement characterized by acute encephalitis. This rarely described issue should be considered in travelers returning from endemic areas with acute neurological symptoms.
Abstract: The assessment of an epileptic seizure in a 10-year-old girl originating from Reunion Island revealed a case of familial cerebral cavernous angioma. Multiple hemorrhagic lesions seen during a cerebral magnetic resonance imaging (MRI) scan was suggestive of cavernomas. A cerebral MRI scan in the father showed multiple asymptomatic lesions, thus confirming the familial nature. A genetic study carried out on the patient and her father confirmed the presence of a mutation of the KRIT1 gene with an autosomal dominant transmission. In these disorders, an MRI scan in the patient's parents offers great diagnostic advantages. This screening leads to precautionary measures that are easy to put in place.
Abstract: Meningoencephalitis due to Listeria monocytogenes is a rare and serious form of brainstem infection in childhood. OBSERVATION: We report the case of a 7 year-old girl presenting lymphocytic meningitis with a high CRP level. Parenteral antibiotics combining ceftriaxone and vancomycine led initially to clinical improvement. Ten days later, secondary brainstem inflammation with hydrocephalus appeared and led to the detection of L. monocytogenes during external ventricular bypass. CONCLUSION: This observation of paediatric lymphocytic meningoencephalitis suggests a prescription of amoxicillin in association with first line antibiotics, particularly when an important inflammatory syndrome exists, immunocompetent children included.
Abstract: BACKGROUND: The Reunion Island is a French administrative department located in the Indian Ocean between the islands of Madagascar and Mauritius. Its population is known to be at a high risk of cystic fibrosis (CF). METHODS: Data concerning all CF patients born at the Reunion Island was extracted from the French CF Registry. Twenty-eight DeltaF508/DeltaF508, 17 Y122X/DeltaF508, and 11 Y122X/Y122X were included in a genotype-phenotype study. RESULTS: The detection rate of the CFTR mutations was 83% among the CF patients born at the Reunion Island. Three CFTR mutations accounted for 75% of the detected CF alleles at the Reunion Island (DeltaF508, Y122X, and 3120 + 1G-->A.). The DeltaF508/DeltaF508, DeltaF508/Y122X, and Y122X/Y122X genotypes accounted for 60.2% of the CF patients. Patients carrying at least one Y122X mutation were pancreatic insufficient, had high sweat chloride values and significantly lower anthropometric measures. The mean anthropometric values in all three groups were lower that in the whole CF population followed in "continental" France. This may reflect the poor compliance and even the refusal of treatment noted by the clinicians. CONCLUSIONS: The distribution of CFTR mutations could be explained by the history of the Reunion Island: admixture of French settlers, African and Asian populations, founder effect and isolation followed by genetic drift. The Y122X allele appears to be associated with a severe phenotype.
Abstract: A maternal toxoplasmosis before conception is exceptionally transmitted to the fetus. We report an observation of twin sisters who presented congenital toxoplasmosis with chorioretinitis detected at nine months of age. The anamnesis revealed that the mother had had toxoplasmosis one month before conception. In the event of preconceptual infections, we propose fetal ultrasonography, histological examination of the placenta at delivery, as well as a pediatric follow-up of the infants (serological samples every month, cranial ultrasonography, fundus oculi).
Abstract: 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.
