PubMed Health⌕ Search

Biomedical subjects

M Renouil

Publications and source records attributed to M Renouil.

At least 19 recordsLinked to original sources
PubMed2005

Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening.

The large heterogeneity in the cystic fibrosis (CF) gene is the main difficulty for genotype characterization. Numerous studies have reported considerable variations in frequencies of CF transmembrane conductance regulator (CFTR) mutations in different populations, such as African, Asian, or European populations. To completely characterize the spectrum of mutations in the CFTR gene in the Réunion Island population, we screened 228 CF chromosomes using denaturing high-pressure liquid chromatography and denaturing gradient gel electrophoresis following by direct sequencing. We identified 27 mutations, accounting for 93% of CF chromosomes. They included three novel mutations (M1T, 3121-3C-->G, and L1324P), which are described in this paper. The detection of such a high proportion of Réunion Island CFTR mutations is important for improving neonatal screening of CF on Réunion Island.

Cystic Fibrosis↗
PubMed2004

[Maternal toxoplasmosis before conception and chorioretinitis in twin sisters].

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).

Adult↗
PubMed2003

[Clinical aspects and genetic specificities of cystic fibrosis in Reunion Island].

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.

Child↗
PubMed2001

[Hypernatremic dehydration and breastfeeding].

UNLABELLED: Neonatal hypernatremic dehydration due to breast feeding was rarely reported in the French-language literature. CASE REPORT: The authors report hypernatremic dehydration in a 10-day-old exclusively breast-fed infant. The course was favorable. Insufficient breast milk production has been reported for 30 years. CONCLUSION: Early discharge from maternity units is frequent nowadays. Breast-fed newborns without a positive weight gain at discharge should be checked for their weight within the first ten days of life.

Breast Feeding↗
PubMed1999

[Severe anorexia in infants in Reunion: a new autosomal recessive disease?].

BACKGROUND: Infantile anorexia is usually considered as a psychogenic disorder with benign prognosis. However, unusually severe characteristics of infantile anorexia, seen in the south of the island, seem to us in favor of a new metabolic etiology. POPULATION AND METHODS: Among 38 known cases, we retrospectively studied the best documented observations of 24 children admitted over the last 25 years to our institution. RESULTS: The sex ratio was ten females and 14 males. Twenty-three of the 24 infants lived in formerly isolated localities of the island where other hereditary diseases have been observed with an unusually high frequency. The family pedigrees favoured an autosomal recessive heredity. Severe anorexia, accompanied by irrepressible vomiting (91%), appeared at the age of 8.5 months +/- 3.5. Parenteral (54.2%) or enteral (54.2%) feeding was necessary but did not always avoid death, which occurred in 45.8% of the cases at the age of 24 months +/- 3.5. All of the children which survived had neurological disorders (pyramidal syndrome, ataxia, laryngeal palsy, mental retardation, seizures) which occurred sometimes at an early stage. The investigations did not allow the identification of any known cause. DISCUSSION: The elevated level of lactic acid in the cerebral spinal fluid seemed to indicate a possible mitochondrial disorder, eventually a mutation of an autosomal gene of the pyruvate dehydrogenase complex because of the normal lactate/pyruvate ratio, but enzymatic activities were normal. The cerebral MRI showed features of leukodystrophy. On the other hand, the elevated level of plasma serotonin seemed to indicate a disorder of the serotonin metabolism, for which an animal model exists. CONCLUSION: We propose to name this new syndrome by the acronym 'RAVINE' which associates Reunion, Anorexia, Vomiting which is Irrepressible, and Neurological signs. Linkage study might allow the localization and isolation of a gene and allow one to start understanding the biological mechanism which we suspect to be an hereditary neurobiological eating disorder.

Anorexia↗
PubMed1998

[MELAS syndrome in a five year-old child: clinical, biological and genetic characteristics].

BACKGROUND: MELAS syndrome is a rare mitochondrial cytopathy; its diagnosis can be difficult. CASE REPORT: A 6-month-old boy presented with febrile seizures, possibly due to viral meningitis. At 7 months, he developed myoclonia and "brain attacks" and, subsequently, myoclonical attacks, regression of psychomotor and mental acquisitions, and progressive visual loss. The ratio of lactatorachia/lactacidemia was increased. The molecular genetic analysis showed an heteroplasmic point mutation with A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(leu) (UUR) gene. He was the second child of a mother having frequent headaches. His great aunt, a sister of his maternal grandmother, was mentally retarded and had frequent epileptic seizures and hemiparesy since her childhood. CONCLUSION: Any unusual neurological symptom, particularly when combined with "illegitimate" symptoms, should lead to search for a mitochondrial cytopathy.

Child, Preschool↗
PubMed1997

[Angiostrongylosis in infants in Reunion and Mayotte. Apropos of 3 cases of eosinophilic meningitis including 1 fatal radiculo-myeloencephalitis with hydrocephalus].

BACKGROUND: Eosinophilic meningitis caused by Angiostrongylus cantonensis is widespread in Southeast Asia and Pacific islands. Adults develop a transient meningitis with a benign course but severe or fatal disease may occur in pediatric patients. CASE REPORT: Case 1. A 11-month-old boy living in Mayotte island was hospitalized a few days with fever and skin rash following by seizure, coma, flaccid quadraplegia, absence of deep tendon reflexes, urinary retention and anal incontinence. Eosinophilia was observed in peripheral blood and cerebrospinal fluid. He further developed a triventricular hydrocephalus treated by ventriculoperitoneal shunt. The child died 3 weeks later. A serodiagnosis of angiostrongylus infestation was restrospectively established. Case reports 2 and 3.-Two infants, 10 and 11-month-old-boys, living in Reunion island, developed fever and vomitings, irritability and, for one of them, unilateral sixth cranial nerve palsy. There was eosinophilia in the peripheral blood and in the cerebrospinal fluid. All symptoms progressively disappeared with complete recovery. The suspected diagnosis of angiostrongylus infestation was confirmed by the serology. CONCLUSION: We report the first case of Angiostrongylus cantonensis infection in the French island of Mayone (Comoro Islands) and we confirm the presence of this disease in Reunion island. In this Indian Ocean area, eosinophilic meningitis occurs most of the time in infants with sometimes severe radiculomyeloencephalitic forms.

Angiostrongylus cantonensis↗
PubMed1997

[Angiostrongylus in the infant at Reunion and Mayotte. Apropos of 3 cases of eosinophilic meningitis including 1 fatal radiculomyeloencephalitis with hydrocephalus].

BACKGROUND: Eosinophilic meningitis caused by Angiostrongylus cantonensis is widespread in Southeast Asia and Pacific islands. Adults develop a transient meningitis with a benign course but severe or fatal disease may occur in pediatric patients. CASE REPORT 1: A 11 months old boy living in Mayotte island was hospitalized some days after fever and skin rash with seizure status, coma, flaccid quadriplegia, absence of deep tendon reflexes, urinary retention and anal incontinence. Eosinophilia was observed in peripheral blood and in the cerebrospinal fluid. Secondary, he developed a triventricular hydrocephalus treated by a ventriculoperitoneal shunt. After 3 weeks, the child died. Retrospectively, the diagnosis of angiostrongylus infection was established with the help of serology. CASE REPORTS 2 AND 3: Two infants, 10 and 11 months old boys, living in Reunion island, developed fever and vomitings, irritability and, for one of them, a unilateral sixth cranial nerve palsy. There was eosinophilia in the peripheral blood and in the cerebrospinal fluid. All symptoms progressively disappeared with complete recovery. The suspected diagnosis of angiostrongylus infection was confirmed by the serology. CONCLUSION: We report the first case of Angiostrongylus cantonensis infection in the French island of Mayotte (Comoro Islands) and we confirm the presence of this disease in Reunion island. In this Indian Ocean area, eosinophilic meningitis occurs most of the time in infants with sometimes severe radiculomyeloencephalitic forms. The origin of these occasionally massive infections is the giant African snail Achatina fulica. For a child with meningitis living in Reunion or Mayotte, or coming back from these 2 islands, Angiostrongylus cantonensis infection must be evoked, especially if there is a blood eosinophilia. Since efficiency of antiparasitic treatment is nowadays not proved, information must be given to people living in exposed areas in view to limit incidence of this disease.

Angiostrongylus cantonensis↗