Campylobacter jejuni bacteremia and Helicobacter pylori in a patient with X-linked agammaglobulinemia.

We describe a 15-year-old patient with X-linked agammaglobulinemia who developed malabsorption and bacteremia due to infection of Helicobacter pylori and Campylobacter jejuni. The Campylobacter bacteremia was only recognized after subculturing of blood culture bottles that failed to signal in the automated system. After 2 weeks of treatment with meropenem and erythromycin for 4 weeks, the patient developed a relapse of bacteremia 10 months later with a high level erythromycin resistant C. jejuni. Sequencing revealed an A2058C mutation in the 23 S rRNA gene associated with this resistance. Treatment with doxycycline for 4 weeks finally resulted in complete eradication. This case report illustrates the importance for physicians to use adapted culture methods and adequate prolonged therapy in patients with an immunodeficiency. A summary of published case reports and series of patients with hypogammaglobulinemia or agammaglobulinemia with Campylobacter or Helicobacter bacteremia is given.

Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities.

5-Oxoprolinuria is primarily associated with inborn errors of the gamma-glutamyl cycle. In addition, transient 5-oxoprolinuria has been reported to occur in a variety of conditions, such as prematurity and malnutrition, and during medication. We report an unusual case of permanent 5-oxoprolinuria. The patient presented 3 days after birth with acidosis, and metabolic screening revealed massive excretion of 5-oxoproline. Following recovery, growth and psychomotor development were normal, but 5-oxoprolinuria persisted. Primary defects in the gamma-glutamyl cycle were ruled out since glutathione synthase and 5-oxoprolinase activities were normal. All known secondary causes of 5-oxoprolinuria were also excluded, leaving the basis of the permanent 5-oxoprolinuria in this patient unresolved.

A patient with dup(10p)del(8q) and Pendred syndrome.

We report on a severely retarded girl with multiple congenital anomalies. Chromosome studies showed a der (8) chromosome with dup(10p) and deficiency for a small distal segment of 8q. Her father proved to be carrier of a de novo balanced translocation between chromosome 8q and 10p. At 1 year the patient was also found to have the Pendred syndrome, an autosomal recessive defect in thyroid organification. The concurrence of chromosome anomalies and single gene disorders might not be too rare, but can be easily overlooked. Yet there are important consequences for genetic counseling. Moreover, recognition of these concurrences may help gene mapping.

[Impediments to incubator home care in The Netherlands]. / Belemmeringen voor couveuse-thuiszorg in Nederland.

OBJECTIVE: To determine whether incubator home care is desirable and feasible. DESIGN: Inventory. SETTING: Four neonatal units representative of the type of care in general hospitals in the Netherlands. METHOD: The relevant data on all infants with a birth weight < or = 2000 g admitted in the last 3 months of 1996 to one of four hospitals were analysed. Conditions for incubator home care were determined (e.g. absence of need for special care, vital function monitoring or nasogastric tube feeding). RESULTS: Forty-nine infants were enrolled. Mean hospital stay was 28.7 days in an incubator plus 19.7 days in a cot. When infants were placed in a cot they usually still needed tube feeding and monitoring of vital functions and sometimes parenteral nutrition, medication or extra oxygen which made home discharge impossible. Therefore a pilot study of actual home care could not be carried out. CONCLUSION: Although early home discharge is very desirable for newborn infants, the number of infants eligible for incubator home care is so small that further attempts to organise it are not useful.

[Guideline on Helicobacter pylori infection in children]. / Richtlijn Helicobacter pylori-infectie bij kinderen.

In 2012, at the request of the Dutch Society of Paediatrics, a multidisciplinary working group developed a guideline entitled 'Helicobacter pylori infection in children aged 0-18 years'. The 2011 international guideline served as the guiding principle for this. The guideline includes recommendations on which children should be tested for H. pylori infection, the diagnostic tests to be used, the type of treatment to be given, and how follow-up should be conducted. Children can be tested and treated in both primary and secondary care. A gastroscopy is indicated if the presence of H. pylori in a child has been confirmed by a non-invasive test and two attempts at eradication have failed, and/or there are alarm symptoms that may point to the symptoms having a different underlying cause. A seven-day course of triple eradication therapy can be prescribed. As the level of resistance is low in the Netherlands, this therapy can be used in both the first and second instance without the pattern of resistance being known.

The development and validation of a handicap questionnaire for children with a chronic illness.

INTRODUCTION: This paper describes the development and initial psychometric evaluation of the Handicap Scale for Children (HSC). This questionnaire is based on the London Handicap Scale (LHS), a valid and reliable utility instrument for measuring social participation in adults. METHODS: A multidisciplinary research group was involved in developing the HSC. The questionnaire was tested in 114 children with a chronic disease and 239 healthy children in the 8-18 age range. Relating the Health Utility Index Mark 3 (HUI3) attributes to corresponding HSC scores tested the assumption that a negative health status would lead to participation problems. RESULTS: Questionnaire development resulted in a five-dimension questionnaire: mobility, physical independence, daily activities, social integration and orientation. Each dimension included one item with a six-point response scale. A higher score indicates greater handicap. Feasibility testing with 10 children showed that none of the children experienced difficulties in filling in the questionnaire. Conceptual validity, measured by correlations between the dimensions of the HSC and HUI3, was satisfactory. As expected, moderate correlation coefficients between predefined pairs of HUI and HSC attributes were found; other correlation coefficients were low. Criterion validity was also satisfactory, as shown by large differences between the healthy and the chronically ill group and by several criteria within the chronically ill group. CONCLUSION: Based on this initial evaluation, the questionnaire seems feasible and valid for use with children in the age range 8-18 years.