Pott's disease in Moroccan children: clinical features and investigation of the interleukin-12/interferon-γ pathway

Abstract

Setting Tuberculosis spondylodiscitis (TS) or Pott’s disease is an extra-pulmonary form of TB that is rare and difficult to diagnose in children. Some cases of severe TB in children were recently explained by inborn errors of immunity affecting the IL-12/IFN-γ axis. Objective To analyze the clinical data for Moroccan children with TS, and to perform immunological and genetic explorations of the IL-12/IFN-γ axis. Design We studied nine children with TS diagnosed between 2012 and 2014. We investigated the IL-12/IFN-γ circuit by both whole-blood assays and sequencing of the coding regions of 14 core genes of this pathway. Results TS diagnosis was based on a combination of clinical, biological, histological, and radiological data. QuantiFERON TB Gold in Tube results were positive in 75% of patients. Whole-blood assays showed normal IL-12 and IFN-γ production in all but one patient, who displayed impaired decreased response to IL-12. No candidate disease-causing mutations were detected in the exonic regions of the 14 genes. Conclusions The diagnosis of TS in children remains challenging, and is based largely on imaging. Further investigations of TS in children are required to determine the role of genetic defects in pathways that may or may not be related to the IL-12/IFN-γ axis.

Pott’s Disease in a 3 Years Old Italian Child: Case Report and Review of the Literature

“…In a 6 years study (between 2001 to 2006) Benzagmout M. et al [4] described characteristics and management of 37 Moroccan children (below 15 years of age), in which all of them had a favorable evolution, including patients with initial neurological symptoms and all who necessitated surgical treatment. In another Moroccan study, El Azbaoui S. et al [3], in a prospective observation between 2012 and 2014, described 9 patients with Pott's disease with a particular attention on relation between IL-12/IFN gamma circuit and radiologic/microbiological data; they did not find any evidence of functional impairment of IL-12/IFN gamma axis in their patients.…”

Prevalence and Risk Factors of Infectious Spondylodiscitis in Benin’s Children

“…For common places germs, the situation is some confusing since there is no DOI: 10.4236/ojra.2018.82007 75 Open Journal of Rheumatology and Autoimmune Diseases agreement in the literature regarding the antibiotics' ability to enter discs in an active form. In fact, the antibiotic's ability to spread through all parts of the disc is not only influenced by the vascular supply and structure of the disc (size and health), but also by the properties of the drug (size, solubility, binding and charge) [22] [23] [24]. The antibiotic's charge in particular has been discussed in the literature, since the nucleus pulposus is rich in glycosaminoglycans and has a high density of negative charge [24].…”

A Case of Tuberculosis Spondylodiscitis With Paraspinal Abscess in a 2-Year-Old Child

“…Presenting clinical features in children with spinal TB include systemic symptoms of fever, anorexia, weight loss, night sweats, as well as localized symptoms of back pain, spinal deformity, and neurological symptoms such as paraparesis. 4 , 7 , 8 Due to relatively small-sized case series and reviews, the frequency of neurological involvement in children with spinal TB reported varies widely between 3% and 57%. 7 - 10 Authors have previously reported a high rate of systemic involvement, and over half presenting with neurological symptoms—highlighting the importance of suspecting spinal TB in children with both systemic symptoms and back pain.…”

“… 4 , 7 , 8 Due to relatively small-sized case series and reviews, the frequency of neurological involvement in children with spinal TB reported varies widely between 3% and 57%. 7 - 10 Authors have previously reported a high rate of systemic involvement, and over half presenting with neurological symptoms—highlighting the importance of suspecting spinal TB in children with both systemic symptoms and back pain. 4 , 7 , 11 However, as seen in our patient who presented with back pain and a gibbus deformity, without systemic symptoms, the diagnosis of spinal TB can be easily missed if thought of in association with systemic symptoms.…”