Fat Malabsorption and Ursodeoxycholic Acid Treatment in Children With Reduced Organic Solute Transporter-α () Expression.

Objectives: A bile acid homeostasis disorder was suspected in 2 siblings and their second cousin who presented in infancy with fat malabsorption, severe fat-soluble vitamin deficiency, rickets, and mild liver involvement. Our aims were to identify the genetic cause, describe the disease, and evaluate the response to ursodeoxycholic acid (UDCA) treatment.

Methods: Whole exome sequencing, immunohistochemistry of duodenal biopsies and candidate variant testing in a cell-based model was performed.

Cerebrospinal fluid cytokines and chemokines in children with Lyme neuroborreliosis; pattern and diagnostic utility.

Background: Lyme neuroborreliosis (LNB) is characterized by cerebrospinal fluid (CSF) inflammation with several cytokines/chemokines and B-lymphocytes. Clinically, LNB in children may be difficult to discriminate from non-Lyme aseptic meningitis (NLAM). We aimed to identify CSF cytokine/chemokine patterns in children with LNB, NLAM and controls and elucidate the diagnostic value of these cytokines/chemokines alone or in combination to discriminate between LNB and NLAM.

The B-lymphocyte chemokine CXCL13 in the cerebrospinal fluid of children with Lyme neuroborreliosis: associations with clinical and laboratory variables.

The B-lymphocyte chemokine CXCL13 is increasingly considered as a useful early phase diagnostic marker of Lyme neuroborreliosis (LNB). However, the large variation in level of CXCL13 in the cerebrospinal fluid (CSF) observed in LNB patients is still unexplained. We aimed to identify factors associated with the level of CXCL13 in children with LNB, possibly improving the interpretation of CXCL13 as a diagnostic marker of LNB.

Direct Molecular Detection and Genotyping of Borrelia burgdorferi Sensu Lato in Cerebrospinal Fluid of Children with Lyme Neuroborreliosis.

The current diagnostic marker of Lyme neuroborreliosis (LNB), the antibody index (AI) in the cerebrospinal fluid (CSF), has insufficient sensitivity in the early phase of LNB. We aimed to elucidate the diagnostic value of PCR for in CSF from children with symptoms suggestive of LNB and to explore genotypes associated with LNB in children. Children were prospectively included in predefined groups with a high or low likelihood of LNB based on diagnostic guidelines (LNB symptoms, CSF pleocytosis, and antibodies) or the detection of other causative agents.

Cerebrospinal Fluid B-lymphocyte Chemoattractant CXCL13 in the Diagnosis of Acute Lyme Neuroborreliosis in Children.

Background: Current markers of Lyme neuroborreliosis (LNB) in children have insufficient sensitivity in the early stage of disease. The B-lymphocyte chemoattractant CXCL13 in the cerebrospinal fluid (CSF) may be useful in diagnosing LNB, but its specificity has not been evaluated in studies including children with clinically relevant differential diagnoses. The aim of this study was to elucidate the diagnostic value of CSF CXCL13 in children with symptoms suggestive of LNB.

Gender Differences in Childhood Lyme Neuroborreliosis.

Background: Many neurological diseases show differences between genders. We studied gender differences in childhood Lyme neuroborreliosis (LNB) in an endemic area of Lyme borreliosis in Norway.

Methods: In a population based study, all children (<14 years of age) with symptoms suspicious of LNB, including all children with acute facial nerve palsy, were evaluated for LNB by medical history, clinical examination, blood tests, and lumbar puncture.

Borrelia miyamotoi is widespread in Ixodes ricinus ticks in southern Norway.

From April to October 2007, host-seeking Ixodes ricinus ticks were collected from four locations in southern Norway; Farsund, Mandal, Søgne and Tromøy, respectively. Larvae (n=210), nymphs (n=1130) and adults (n=449) were investigated for infection with Borrelia miyamotoi by real-time polymerase chain reaction (PCR) amplification of part of the 16S rRNA gene. Results were verified by direct sequencing of the PCR amplicon generated from the rrs (16S)-rrl (23S) intergenetic spacer.

Lyme meningitis, the major cause of childhood meningitis in an endemic area: a population based study.

Objective: To evaluate the epidemiology of infectious meningitis in children in a Lyme borreliosis (LB) endemic area, and to study how clinical and laboratory characteristics may distinguish between different types of childhood meningitis.

Design: Retrospective, population based study.

Setting: A paediatric department serving all children (62 000) in a costal LB endemic region of southwestern Norway.

Laboratory data in children with Lyme neuroborreliosis, relation to clinical presentation and duration of symptoms.

The occurrence of IgM and IgG antibodies against Borrelia burgdoferi in serum and cerebrospinal fluid (CSF) and intrathecal synthesis of antibodies (antibody index) were studied in relation to clinical presentation and the duration of symptoms before diagnosis in 146 children diagnosed with neuroborreliosis. Lymphocytic meningitis was demonstrated in 141 of these children. Levels of white blood cells (WBC) and protein in CSF correlated significantly to numbers of d with symptoms.

Clinical characteristics of childhood Lyme neuroborreliosis in an endemic area of northern Europe.

Neuroborreliosis may be caused by different species of Borrelia burgdorferi (BB) and the clinical presentation of neuroborreliosis in children may differ between geographical areas due to occurrence of different BB genospecies. The aim of this study was to evaluate the clinical characteristics in children with neuroborreliosis in an endemic area of Scandinavia. During 1996-2006, children with suspected neuroborreliosis referred to Stavanger University Hospital were investigated by a standard procedure including a lumbar puncture.

[Increase in childhood neuroborreliosis].

Background: Data from the Norwegian Institute of Public Health suggest that the incidence of neuroborreliosis has increased in Norway during recent years. However, this may also be due to a change in diagnostic procedures and increased awareness of the disease.

Material And Methods: At the pediatric department in Stavanger University Hospital we have systematically diagnosed and registered data on all children with neuroborreliosis in a database since 1996.

Acute facial nerve palsy in children: how often is it lyme borreliosis?

Acute facial nerve palsy in children may be caused by infection by Borrelia burgdorferi, but the incidence of facial nerve palsy and the proportion of facial nerve palsy caused by Lyme borreliosis may vary considerably between areas. Furthermore, it is not well known how often facial nerve palsy caused by Lyme borreliosis is associated with meningitis. In this population-based study, children admitted for acute facial nerve palsy to Stavanger University Hospital during 9 y from 1996 to 2004 were investigated by a standard protocol including a lumbar puncture.