RESUMO
A boy with known autism spectrum disorder was transferred to our department due to a rapidly worsening respiratory situation. The patient's history revealed previous treatment with albendazole against a Toxocara infection 2 weeks prior in Poland. Blood analysis showed such severe eosinophilia and markedly elevated levels of IgE that, initially, a hematologic malignancy was suspected. However, diagnostic workup including autoimmune diagnostic, molecular genetic testing, fluorescence in situ hybridization (FISH), bone marrow aspiration, and parasitological testing led to the diagnosis of an insufficiently treated Toxocara infection. Treatment with albendazole and prednisone (six cycles for 4 weeks each) was administered. This treatment regime led to prompt improvement of symptoms and normalization of laboratory findings.
Assuntos
Transtorno do Espectro Autista , Eosinofilia , Síndrome do Desconforto Respiratório , Toxocaríase , Masculino , Animais , Humanos , Albendazol/uso terapêutico , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/tratamento farmacológico , Hibridização in Situ Fluorescente , Toxocaríase/diagnóstico , Eosinofilia/diagnóstico , Eosinofilia/tratamento farmacológicoRESUMO
BACKGROUND: Food allergy is targeted as a public health priority by the European Union Commission. Parental perception of food allergy in their offspring is a proxy measure of the potential demand for allergy medicine services in the paediatric population. METHODS: A representative sample of the general population was contacted by a randomised telephone survey in Austria, Belgium, Denmark, Finland, Germany, Greece, Italy, Poland, Slovenia and Switzerland. A standardised questionnaire was administered regarding parentally perceived food allergy reports, symptoms, foods and medical service use by their live-in children. RESULTS: 40,246 adults were polled, yielding data on 8,825 children. Parentally perceived food allergy prevalence was 4.7% (90% CI 4.2-5.2%). The most affected age group was 2- to 3-year olds (7.2%). Single-country incidence ranged between 1.7% (Austria) to 11.7% (Finland). Milk (38.5%), fruits (29.5%), eggs (19.0%) and vegetables (13.5%) were most often implicated, although with significant age-linked variations. Medical treatment was needed by 75.7% of affected children because of a food reaction. This translates into a proxy measure for food allergy prevalence of 3.75%. Skin symptoms were widespread (71.5%), followed by gastrointestinal (27.6%) and respiratory (18.5%) symptoms. DISCUSSION: We provide the first point prevalence of parentally perceived food allergy in the general paediatric population across the European Union. Parental reports confirm the public health significance of adverse reactions to some foods in specified age groups. Our data may inform intervention planning, cost of illness assessments and quality-of-life-enhancing public health measures.
Assuntos
Hipersensibilidade Alimentar/epidemiologia , Inquéritos Epidemiológicos , Entrevistas como Assunto , Criança , Pré-Escolar , Europa (Continente)/epidemiologia , Feminino , Humanos , Masculino , Distribuição Aleatória , Inquéritos e QuestionáriosRESUMO
46, XY partial gonadal dysgenesis is a rare condition characterized by a varying degree of testicular dysgenesis, ambiguous genitalia, and usually absence of regression of Müllerian structures. The management of patients with these disorders warrants revisiting, owing to recent molecular biological findings and to reports on the long-term outcome of individuals with ambiguous genitalia. We report on a patient with 46, XY chromosomes, presence of the "sex-determining region of Y chromosome" (SRY) gene, scrotal gonads, fallopain tubes, uterus, vagina, and ambiguous genitalia with a penisoid, perineal hypospadia and sinus urogenitalis. Gonadal biopsy revealed virtually normal testicular tissue in both gonads. Removal of the gonads during surgery for a cystic adnex tumor revealed clear signs of partial gonadal dysgenesis. The decision to raise the child as a male was made by parents and physicians caring for the patient. Administration of testosterone, removal of the uterus and adnexes, in addition to repair of the hypospadia permitted an almost normal penis to be formed with normal male micturition. In the management of affected patients it has to be considered that establishing the diagnosis may be extremely tricky, even with the use of gonadal biopsies. The decision on sex assignment may be even more difficult, since future gender identity, limitations of genital reconstructive surgery and the potential for development of gonadal tumors have to be taken into consideration. While in the past, female sex assignment was commonly recommended for such patients, raising them in a male gender role is now considered. Parents should be involved in the decision that is ultimately based on extensive analysis of the individual case.