RESUMEN
We describe a 17-year-old girl with haemolytic anaemia as presentation of Wilson disease. The diagnosis was based on the findings of < 20 mg/dl ceruloplasmin serum level, Kayser-Fleischer ring and Coombs-negative haemolytic anaemia. Genetic testing revealed the presence of the H1069Q heterozygous mutation. The patient was treated with Zinc acetate monotherapy, with good response, maintened after 22 months. This case emphasizes the importance of recognizing atypical clinical presentation of Wilson disease, which must always be considered in patients with Coombs-negative haemolytic anaemia. The good clinical response to treatment with zinc acetate monotherapy in our case might lend to consider the use of zinc monotherapy as initial therapy also in symptomatic patients with Wilson disease under close clinical observation. Clinical trials are needed to provide evidence for use of zinc monotherapy as first-line therapy in symptomatic patients with Wilson disease.
Asunto(s)
Degeneración Hepatolenticular/tratamiento farmacológico , Acetato de Zinc/uso terapéutico , Adolescente , Femenino , Humanos , Inducción de Remisión , Índice de Severidad de la EnfermedadRESUMEN
Sepsis is an increasingly prevalent cause of death, and management in the early stage is a critical issue. However, microbiological findings are generally obtained late during the course of the disease. In this study, we evaluated the clinical utility of procalcitonin (PCT) in improving the diagnosis of bloodstream infections and the potential utility of the SeptiFast (SF) test, a multiplex pathogen detection system, in the etiological diagnosis of immunocompromised patients. Seventy-nine hospitalized immunocompromised patients were included in this study. Our results demonstrate that while the PCT value correlates highly with sepsis, the results do not discriminate adequately enough to justify its independent use as a diagnostic tool. The SF test, combined with blood cultures, improves microbiological data in immunocompromised patients, especially in cases of previous antibiotic therapy and invasive fungal infection.
Asunto(s)
Técnicas Bacteriológicas/métodos , Calcitonina/sangre , Técnicas de Diagnóstico Molecular/métodos , Precursores de Proteínas/sangre , Sepsis/diagnóstico , Adolescente , Adulto , Anciano , Péptido Relacionado con Gen de Calcitonina , Niño , Preescolar , Femenino , Humanos , Huésped Inmunocomprometido , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected just before death, and the diagnosis was confirmed by DNA analysis.
Asunto(s)
Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa , Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa/diagnóstico , Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Aminoácidos/sangre , Preescolar , Diagnóstico Diferencial , Resultado Fatal , Humanos , Masculino , Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa/sangre , Ácido Orótico/orinaRESUMEN
Roberts syndrome is a rare autosomal recessive condition characterized by growth retardation, cranio-facial abnormalities and symmetrical limb reduction of variable severity. Most patients with Roberts syndrome show a typical cytogenetic finding known as "Roberts syndrome effect". We describe a 4-month-old patient with a mild form of this syndrome, who presented with an asymmetrical reduction of the right upper limb.
Asunto(s)
Anomalías Múltiples/genética , Brazo/anomalías , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/patología , Brazo/diagnóstico por imagen , Brazo/patología , Huesos/diagnóstico por imagen , Femenino , Humanos , Lactante , Síndrome , UltrasonografíaRESUMEN
The Marshall-Smith syndrome is characterised by overgrowth, accelerated skeletal maturation, and dysmorphic facial features, often associated with mental retardation of variable degree. Most of the reported patients died in the first three years of life mainly because of respiratory problems. We describe a 5 year old patient with this rare syndrome, who has optic atrophy and agenesis of the corpus callosum, but has no respiratory problems so far. This observation underlines the clinical variability of the Marshall-Smith syndrome and indicates that life expectancy may be prolonged.