Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations

IntroductionArthrogryposis multiplex congenita (AMC) refers to a clinical presentation of congenital contractures involving two or more body areas. More than 400 distinct conditions may lead to AMC, making the aetiological diagnosis challenging. The objective of this work was to set up evidence-based recommendations for the diagnosis of AMC by taking advantage of both data from our nation-wide cohort of children with AMC and from the literature.Material and methodsWe conducted a retrospective single-centre observational study. Patients had been evaluated at least once at a paediatric age in the AMC clinic of Grenoble University Hospital between 2007 and 2019. After gathering data about their diagnostic procedure, a literature review was performed for each paraclinical investigation to discuss their relevance.ResultsOne hundred and twenty-five patients were included, 43% had Amyoplasia, 27% had distal arthrogryposis and 30% had other forms. A definitive aetiological diagnosis was available for 66% of cases. We recommend a two-time diagnostic process: first, non-invasive investigations that aim at classifying patients into one of the three groups, and second, selected investigations targeting a subset of patients.ConclusionThe aetiological management for patients with AMC remains arduous. This process will be facilitated by the increasing use of next-generation sequencing combined with detailed phenotyping. Invasive investigations should be avoided because of their limited yield.

Biliary cystadenoma masquerading as an adnexal cyst in pregnancy

The aetiological diagnosis of cystic masses detected on routine ultrasound during pregnancy can be challenging. Unless approached cautiously with a detailed history and adequate use of imaging techniques, misdiagnosis of these cystic masses are not uncommon. Cystic masses diagnosed during pregnancy are mostly of ovarian origin; however, other non-ovarian cystic masses are also detected incidentally or at laparotomy/laparoscopy. We report a rare case of ruptured biliary cystadenoma in a pregnant woman diagnosed at emergency laparotomy. She was taken up for surgery with a provisional impression of ruptured adnexal cyst. However, the cyst was found to be arising from the liver and the histology of the cyst wall was reported as biliary cystadenoma.

FilmArray® Meningoencephalitis Panel In the Diagnosis of Central Nervous System Infections: Stewardship And Cost Analysis in a Paediatric Hospital in Chile

Background: Central nervous system (CNS) infection has been an ongoing concern in paediatrics. The FilmArray® Meningoencephalitis (FAME) panel has greater sensitivity in identifying the aetiology of CNS infections. This study’s objective was to compare the aetiological identification and hospitalization costs among patients with suspected CNS infection before and after the use of FAME.Methods: An analytical observational study was carried out using a retrospective cohort for the pre-intervention (pre-FAME use) period and a prospective cohort for the post-intervention (post-FAME use) period in children with suspected CNS infection.Results: A total of 409 CSF samples were analysed, 297 pre-intervention and 112 post-intervention. In the pre-intervention period, a total of 85.5% of patients required hospitalization, and in the post-intervention period 92.7% required hospitalization (p<0.05). The P50 of ICU days was significantly lower in the post-intervention period than it was in the pre-intervention period. The overall positivity was 9.4% and 26.8%, respectively (p< 0.001). At ages 6 months and below, we found an increase in overall positivity from 2.6% to 28.1%, along with an increased detection of viral agents, S. agalactiae, S. pneumoniae, and N. meningitidis. The use of this diagnostic technology saved between $2,916 and $12,240 USD in the cost of ICU bed-days. FAME use provided the opportunity for more accurate aetiological diagnosis of the infections and thus the provision of adequate appropriate treatment.Conclusions: The cost/benefit ratio between FAME cost and ICU -bed-day cost savings is favourable. Implementation of FAME in Chilean public hospitals saves public resources and improves the accuracy of aetiological diagnosis.

Rapid molecular syndromic testing for aetiological diagnosis of gastrointestinal infections and targeted antimicrobial prescription: experience from a reference paediatric hospital in Spain

Aetiological diagnosis of gastrointestinal infections is challenging since a wide range of bacteria, parasites and viruses can be causal agents and derived clinical manifestations appear quite similar. Our aim was to evaluate contribution of the novel QIAstat-DxGastrointestinal Panel (GIP) to aetiological diagnosis of gastrointestinal infections and rational antimicrobial prescription in a reference paediatric hospital. Evaluation included comparison of diagnostic yield and agreement of results of QIAstat-Dx GIP and conventional microbiological methods. Parallel testing was performed on stool samples collected prospectively from children admitted to Sant Joan de Deu Barcelona Hospital (Spain) during the period February–March 2019. Influence of the panel test use on antimicrobial prescription was assessed using a pre–post study design. Eighty-six (68.8%) out of 125 specimens were positive by QIAstat-Dx GIP versus 44 (35.2%) positive by a composite of conventional methods (p<0.001). Global agreement of panel test results with rotavirus-adenovirus antigen detection (92.8%) and a two-step antigen/toxin and PCR-based algorithm for toxigenic Clostridioides difficile detection (87.5%) was greater than that with bacterial culture (76.0%) and parasite microscopic identification (64.3%). Panel test results orientated antimicrobial prescription changes in 18 (14.4%) patients, including antimicrobial start in 11 cases initially untreated, targeted antimicrobial prescription in 5 and discontinuation in 2 cases empirically treated. Results showed that QIAstat-Dx GIP significantly expanded aetiological diagnosis of gastrointestinal infections compared to conventional microbiological methods while orientating a more judicious use of antimicrobial drugs in hospitalised children.

Postpartum lumbosacral radiculopathy: a neuraxial anaesthesia complication or an intrinsic obstetric palsy?

Postpartum peripheral nerve disorders are an uncommon obstetrical complication, with most cases resulting from intrinsic obstetric palsies. We present the case of a full-term nulliparous pregnant 33-year-old woman with a vacuum-assisted vaginal delivery due to a prolonged second stage of labour and occipitoposterior position of the fetal head. For analgesia, a combined spinal–epidural technique was used. Four hours after delivery, the patient experienced a painless asymmetric motor deficit and hypoesthesia in the lower limbs, followed by sphincter disturbance. Emergent MRI was unremarkable. Electromyography showed signs of a bilateral lumbosacral radiculopathy. The patient experienced a gradual recovery over the following 2 months. Although a definitive aetiological diagnosis could not be confirmed, a lumbosacral polyradiculopathy due to intrinsic obstetric complication was considered. The patient presented several risk factors known to be associated with intrinsic obstetric palsies. Obstetricians and anaesthesiologists have an important role in preventing and diagnosing postpartum peripheral nerve disorders.