RESUMEN
INTRODUCTION: Aquagenic palmoplantar keratoderma (APK) is a cutaneous phenomenon marked by the formation of edematous, translucent papules and plaques on the palms after water immersion. It can be observed in healthy subjects, but while this dermatosis is little known by practitioners treating these patients, most cases of APK have been described in patients with cystic fibrosis (CF). The primary objective of this study was to evaluate the frequency of APK in a population of children with CF. In addition, the relationship between APK and sex, genotype, pancreatic and pulmonary function, body mass index, and sweat chloride levels was analyzed. METHODS: This study was conducted in 60 children, 27 girls and 33 boys, aged 4 months to 18 years, followed at the CF care center at Angers (France) University Hospital, in whom CF had been confirmed by a positive sweat chloride level greater than 60 mmol. APK was determined by questioning searching for modifications of the palms noticed by the patient or his/her family after immersion in water and a clinical examination searching for the same signs before and after immersion of the right hand in a bucket of lukewarm water for 3 minutes (bucket sign). RESULTS: Forty-seven out of 60 children (78%) had a positive bucket sign. Thirty-eight upon these 47 children had already noticed modifications of the skin on their palms, appearing quickly during the bath and 6 had an edema and an increase in skin folds on the palms of the hands even before immersion of their hand in water. No genotype-phenotype correlations were detected in patients with APK, nor were there associations of APK with other phenotypic features of CF. CONCLUSION: APK is very frequent in patients with CF. It is most probably a consequence of the dysfunction of the CFTR protein. It should be systematically sought in all patients with CF. Its discovery in another context should suggest the diagnosis of CF or a carriage to the heterozygous state of a mutation involved in the disease.
Asunto(s)
Fibrosis Quística/complicaciones , Fibrosis Quística/diagnóstico , Queratodermia Palmoplantar/diagnóstico , Queratodermia Palmoplantar/etiología , Sudor/química , Agua/efectos adversos , Adolescente , Niño , Preescolar , Cloruros/análisis , Fibrosis Quística/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Femenino , Francia , Humanos , Inmersión/efectos adversos , Lactante , Queratodermia Palmoplantar/genética , Masculino , Mutación , Encuestas y CuestionariosRESUMEN
CASE REPORT: The authors report the case of an infant presenting with status epilepticus, apneas and hypothermia, related to hyponatremia. The cause was water intoxication, secondary to feeding a dilute formula and free water. The parents were notoriously challenged by the care of their children. Such disorder could have been prevented. CONCLUSION: Dietary history may be key to the diagnosis of hyponatremia in children. Water intoxication of nutritional origin can be prevented.
Asunto(s)
Hiponatremia/etiología , Fórmulas Infantiles/química , Intoxicación por Agua/diagnóstico , Adulto , Apnea/etiología , Hijo de Padres Discapacitados , Femenino , Humanos , Hipotermia/etiología , Lactante , Masculino , Estado Epiléptico/etiologíaRESUMEN
BACKGROUND: The vital outcome for treated medulloblastoma in children is generally positive provided there is no evidence of recurrence 18 months after initial surgery and radiotherapy. Late recurrences have, however, been reported. CASE REPORT: A medulloblastoma in the posterior fossa of a 10 year-old-boy was treated by almost complete surgical excision, radiotherapy and chemotherapy. One year later, the CT scan was normal but, 4 years after surgery, it showed supra-and infratentorial tumors. Progressive hydrocephaly required a ventriculoperitoneal shunt. 9 years after the initial surgery, progressive neurological degradation and the presence of cells in the CSF were treated by several courses of chemotherapy, with subsequent improvement of the neurological condition. This boy is in a stabilized condition 11 years after the discovery of the tumor. CONCLUSION: The first symptomatic recurrence of medulloblastoma was late, more than seven years after surgery. This recurrence was supra-and infratentorial and responded to non intensive chemotherapy.
Asunto(s)
Neoplasias Cerebelosas/terapia , Meduloblastoma/terapia , Neoplasias Cerebelosas/cirugía , Niño , Humanos , Masculino , Meduloblastoma/cirugía , Recurrencia , Factores de TiempoRESUMEN
A case of candida meningitis occurring in a child treated for a lymphoma is reported. Diagnosis was made with Candida albicans culture in the CSF. Blood cultures were negative. Cerebral CT scan was normal. No other localization was found. The child was successfully treated by amphotericin B (initially with 5-fluorocytosin). Fluconazole was continued orally later on. This case is noteworthy by the absence of other localization, the favourable evolution and its occurrence in childhood. The therapeutic attitude and prevention are discussed.