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The original article [1] contains errors in Table 1 affecting some of the presented oligonucleotide sequences and readthrough values in Table 1.
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Autosomal recessive Charcot-Marie-Tooth disease (AR-CMT) is often characterized by onset in early childhood and severe phenotype compared to the dominant forms. CMT disease associated with periaxin gene (PRX) is rare and characterized by demyelination limited to the major peripheral nerves. Following the discovery of a high frequency of a specific periaxin gene mutation (E1085fsX4 homozygote) in the Reunion Island, we examined all French patients known as carriers of the periaxin gene mutation. There were 24 patients. Eighteen were from the Reunion Island (6 families and 10 sporadic cases). The six remaining patients were in two families, each with two affected individuals, and two sporadic cases. The series included 17 female and seven male patients. Walking was acquired late, on average at 3.4±1.6 years. One patient never learned to walk. The Charcot Marie Tooth Neuropathy Score (CMTNS) averaged 24.5±8.1. Seven patients had been wheelchair-bound since the age of 24±22. Other symptoms were: scoliosis most often observed after the age of 12 years and sometimes complicated by a restrictive respiratory syndrome; foot deformity in 24 patients; strabismus; glaucoma; myopia. When conduction recordings are available, median nerve motor conduction was slow (<10m/s), associated with a major lengthening of distal latencies. Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis. This disease leads to major disability (29% of patients in this series were wheelchair-bound) and to respiratory insufficiency. Genetic counselling is highly recommended for consanguineous families.
Assuntos
Doença de Charcot-Marie-Tooth/genética , Doença de Charcot-Marie-Tooth/fisiopatologia , Proteínas de Membrana/genética , Mutação , Adulto , Doença de Charcot-Marie-Tooth/diagnóstico , Criança , Pré-Escolar , Estudos de Coortes , Eletrofisiologia , Família , Feminino , França , Humanos , Lactente , Masculino , Reunião , Adulto JovemRESUMO
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.
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Angiostrongylus cantonensis , Encefalomielite/parasitologia , Eosinofilia/parasitologia , Hidrocefalia/parasitologia , Meningite/parasitologia , Infecções por Strongylida , Animais , Comores , Evolução Fatal , Humanos , Lactente , Masculino , ReuniãoRESUMO
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.
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Aleitamento Materno , Desidratação/etiologia , Hipernatremia/etiologia , Fenômenos Fisiológicos da Nutrição do Lactente , Humanos , Recém-Nascido , Masculino , Leite HumanoRESUMO
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.
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Cromossomos Humanos Y/genética , Fibrose Cística/genética , Fibrose Cística/patologia , Criança , Estudos de Coortes , Análise Mutacional de DNA , Feminino , Genótipo , Humanos , Masculino , Fenótipo , Estudos Retrospectivos , ReuniãoRESUMO
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.
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Angiostrongylus cantonensis , Eosinofilia/parasitologia , Meningite/parasitologia , Infecções por Strongylida/diagnóstico , Animais , Comores , Encefalomielite/etiologia , Encefalomielite/parasitologia , Eosinofilia/etiologia , Evolução Fatal , Humanos , Hidrocefalia/etiologia , Hidrocefalia/parasitologia , Lactente , Masculino , Meningite/etiologia , Radiculopatia/etiologia , Radiculopatia/parasitologia , Reunião , Infecções por Strongylida/complicaçõesRESUMO
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.
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Anorexia/genética , Genes Recessivos , Anorexia/metabolismo , Encéfalo/patologia , Feminino , Geografia , Humanos , Lactente , Lactatos/líquido cefalorraquidiano , Imageamento por Ressonância Magnética , Masculino , Miopatias Mitocondriais/diagnóstico , Miopatias Mitocondriais/genética , Linhagem , Complexo Piruvato Desidrogenase/genética , Estudos Retrospectivos , Serotonina/metabolismoRESUMO
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.
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Síndrome MELAS/fisiopatologia , Mutação Puntual , Pré-Escolar , Epilepsia/genética , Feminino , Humanos , Deficiência Intelectual/genética , Síndrome MELAS/diagnóstico , Síndrome MELAS/genética , Masculino , RNA/genética , RNA Mitocondrial , RNA de Transferência de Leucina/genéticaRESUMO
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).
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Coriorretinite/parasitologia , Doenças em Gêmeos , Toxoplasmose Congênita/complicações , Adulto , Coriorretinite/diagnóstico , Feminino , Humanos , Lactente , Transmissão Vertical de Doenças Infecciosas , Cuidado Pré-Concepcional , Gravidez , Toxoplasmose Congênita/diagnóstico , Toxoplasmose Congênita/transmissão , Ultrassonografia Pré-NatalRESUMO
These guidelines aim to standardize the care of infants diagnosed with a typical form of cystic fibrosis (CF) at neonatal screening. They have been implemented by the National Working Group for Neonatal Screening of the French Federation for CF and have been validated using the Delphi methodology by a large group of clinicians involved in the care of CF infants. These guidelines encompass management and organization of care at diagnosis and describe nutritional, digestive, and respiratory monitoring and treatment during the first 2 years of life.