RESUMEN
Nowadays, high altitude resorts have become popular destinations for family vacations. Based on a limited number of publications and international guidelines, this article summarizes the effects of high altitude on children and pregnant women. Children also suffer from high altitude-related diseases, however their presentation and clinical significance are different from their adult counterparts. Careful planning of the itinerary with respect to altitude of the overnight stays, access to medical services and potential evacuation routes is the cornerstone of a successful vacation.
Asunto(s)
Altitud , Niño , Mujeres Embarazadas , Adulto , Mal de Altura/epidemiología , Mal de Altura/terapia , Edema Encefálico/epidemiología , Edema Encefálico/etiología , Edema Encefálico/terapia , Femenino , Humanos , Embarazo , ViajeRESUMEN
We report on a 6-year-old girl with C-trigonocephaly syndrome and diaphragmatic hernia. She is severely mentally retarded and shows the characteristic findings of this syndrome, including trigonocephaly, unusual facial features, especially intra-oral anomalies, low set and dysplastic ears, cardiac anomaly and neonatal hypotonia. Following our presentation at the 5th European meeting of dysmorphology in Strasbourg, P. Meinecke brought to our attention a case of C-trigonocephaly who died in the neonatal period from complications of a diaphragmatic hernia. Another case of C-trigonocephaly without diaphragmatic hernia was communicated to us by D. Lacombe. We report these three observations and present a review of 26 alleged cases.
Asunto(s)
Anomalías Múltiples/genética , Huesos Faciales/anomalías , Hernia Diafragmática/genética , Cráneo/anomalías , Niño , Femenino , Asesoramiento Genético , Humanos , Lactante , Recién Nacido , Discapacidad Intelectual/genética , Masculino , Fenotipo , Factores de Riesgo , SíndromeRESUMEN
The purpose of this report is to assess the role of long-term clinical and hepatic ultrasound (US) follow-up in children who sustained blunt liver trauma. Forty-three children with blunt hepatic injury were prospectively studied between 1976 and 1994 in our institution. Four patients died (9%). Fourteen children (52%) were operated upon and 13 (48%) were treated conservatively. Twenty-seven patients were recalled for a long-term echography (US) with a mean time span of 6 years after trauma. The physical examination and the liver tests were normal in all patients. The US aspect of the liver was abnormal in 22% of our cases, showing hypoechogenic areas and anomalies of the biliary tract in four patients (11%). Cholelithiasis secondary to hemobilia was demonstrated in 2 patients. Cholecystectomy was performed in one patient because of posttraumatic strictures of the biliary tract. All patients with US anomalies of the liver and biliary tract were clinically asymptomatic and had normal liver tests. We recommend a follow-up US in children having sustained blunt hepatic injury about 6 months after the trauma. If no cholelithiasis or alteration of the biliary tract is present, no other follow-up procedure seems necessary.
Asunto(s)
Traumatismos Abdominales/diagnóstico por imagen , Hígado/lesiones , Heridas no Penetrantes/diagnóstico por imagen , Traumatismos Abdominales/cirugía , Adolescente , Adulto , Conductos Biliares/diagnóstico por imagen , Conductos Biliares/lesiones , Conductos Biliares/cirugía , Niño , Preescolar , Colecistectomía , Femenino , Estudios de Seguimiento , Humanos , Hígado/diagnóstico por imagen , Pruebas de Función Hepática , Masculino , Ultrasonografía , Heridas no Penetrantes/cirugíaRESUMEN
BACKGROUND: Chronic meningococcemia, defined as a meningococcal septicemia without meningeal symptoms with persistence of fever for at least one week prior to any antibiotics, is uncommon. Its pathophysiology remains unclear and a defect in host immunity has been suggested. CASE REPORT: A 15 year-old adolescent was examined because he suffered from fever for 6 days, headache, arthralgias. A disseminated erythema led to consider the diagnosis of vascularitis that was confirmed by skin biopsy. At day 9, blood culture yielded Neisseria meningitis group B that was confirmed by a second blood culture; the CSF was normal and sterile. The patient was given ceftriaxone plus penicillin for 14 days and completely cured. A detailed analysis of the complement system was negative but the patient was found to be deficient in IgA. CONCLUSION: This is the first reported case in which chronic meningococcemia is associated with complete IgA deficiency.