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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., (© 2024. The Author(s).)

About 2% of the general population and up to 6% of children suffer from food allergy. Cow's milk is charged with a important role in infancy after weaning, since conventional formula are based on its procession. IgE-mediated and Non-IgE- mediated allergic reactions, which are different in manifestation and pathogenesis, can be distinguished. A special role play the exacerbation of atopic dermatitis and the gastrointestinal-food-hypersensitivity-reactions. Skin-prick-test and determination of specific IgE are important diagnostic tools beside medical history. The golden standard of diagnosis is the double-blind-placebo-controlled-food- challenge. The clear result from food-challenge allows to verify suspected food allergies or, on the other hand, to avoid unnecessary diets. Extensively-hydrolysed-formula or Amino-acidformula are a high nutritional value alternative in case of proved cow's milk allergy in infancy.

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., (Copyright 2007 S. Karger AG, Basel.)

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.

Purpose: Monosymptomatic nocturnal enuresis is a disorder, the precise etiology and pathomechanism of which remain unknown. An elevated sleep arousal threshold leading to deep sleep, and an amplitude disturbance in circadian arginine vasopressin secretion and urine production have been suggested as possible causes of the disease. The pineal hormone melatonin is allegedly implicated in the physiological sleep mechanism and circadian system. Melatonin serum levels are high at night and low during the day. The major metabolite of melatonin, 6-hydroxy-melatonin-sulfate (aMT6s), is excreted in the urine and is a good indicator of its production. We explore whether alterations in melatonin secretion assessed by its aMT6s excretion might be implicated in the pathomechanism of monosymptomatic nocturnal enuresis., Materials and Methods: Urine was collected for 24-hour periods from 44 children with monosymptomatic nocturnal enuresis, 10 children with other forms of enuresis/incontinence (nonmonosymptomatic nocturnal enuresis) and 25 controls, and its aMT6s concentration was estimated using a commercially available radioimmunoassay. The total amount of aMT6s excreted per day was calculated., Results: We found no significant differences in the amount of aMT6s excreted in a 24-hour period among patients with or without monosymptomatic nocturnal enuresis and controls with values of 17.6 microg. (1st to 3rd percentile 10.0 to 27.8) versus 13.4 (9.1 to 19.6) versus 21.5 (13.5 to 31.4), respectively. If aMT6s excretion was related to body weight, the result did not change., Conclusions: Our data do not indicate that alterations in melatonin production might be involved in the elevation of the sleep arousal threshold associated with deep sleep in children with monosymptomatic nocturnal enuresis.

The relevance of measuring urinary melatonin (MLT) for human pineal research is sometimes questioned, and the relationship among serum levels of MLT, urinary excretion of the unmetabolized hormone, and excretion of MLTs main metabolite, 6-hydroxymelatonin sulfate (aMT6s), is still uncertain. We applied a well established RIA for measuring MLT in serum to urine samples, characterized its criteria of performance in this body fluid, and used it for human studies. In 16 adolescents, the endogenous overnight MLT secretion, expressed as the area under the concentration time curve, correlated significantly with the amounts of urinary aMT6s (r = 0.86; P < 0.0001) and urinary MLT (r = 0.70; P = 0.0027) excreted during a 16-h observation period. Oral administration of 3 mg exogenous MLT in 17 healthy volunteers resulted in peak MLT serum levels differing 28-fold among subjects (940-27,240 pg/ mL; range). In this study urinary MLT, but not aMT6s, excretion was associated with blood MLT concentrations (r = 0.76; P = 0.0004 vs. r = 0.02; P = 0.93, respectively). Thus, endogenous MLT production can be assessed accurately by measuring either aMT6s or MLT excretion. After oral application of MLT, however, only measurement of MLT excretion is a reliable marker of serum concentrations. Determination of MLT in urine may prove to be a useful tool for drug monitoring after oral administration of the pineal hormone.

Nephrogenic diabetes insipidus (NDI) is characterised by the inability of the kidney to concentrate urine in response to arginine vasopressin. The consequences are severe polyuria and polydipsia, often associated with hypertonic dehydration. Intracerebral calcification, seizures, psychosomatic retardation, hydronephrosis, and hydroureters are its sequelae. In this study, four children with NDI were treated with 3 mg/kg/day hydrochlorothiazide and 0.3 mg/kg/day amiloride orally three times a day for up to five years. While undergoing treatment, none of the patients had signs of dehydration or electrolyte imbalance, all showed normal body growth, and there was no evidence of cerebral calcification or seizures. All but one had normal psychomotor development and normal sonography of the urinary tract. However, normal fluid balance was not attainable (fluid intake, 3.8-7.7 l/m2/day; urine output, 2.2-7.4 l/m2/day). The treatment was well tolerated and no side effects could be detected. Prolonged treatment with hydrochlorothiazide/amiloride appears to be more effective and better tolerated than just hydrochlorothiazide. Its efficacy appears to be similar to that of hydrochlorothiazide/indomethacin but without their severe side effects.