Neuropathic arthropathy of the shoulder as a presenting feature of Chiari malformation with syringomyelia: a case report with a systematic literature review.

BACKGROUND: Neuropathic arthropathy (NA) of the shoulder is a chronic progressive process characterized by joint destruction in the presence of a neurosensory deficit. Syringomyelia, a spinal cord disease, is the leading cause of NA in the upper extremity. OBJECTIVE: We present a systematic review of NA with syringomyelia cases alongside a case report of an adult with NA of the shoulder that occurs a few 4 years after a revelation and surgical management of a Chiari malformation with syringomyelia. METHODS: A systematic review was conducted following PRISMA guidelines. A PubMed, Scopus, Isiknowledge, and manual search through references of relevant publications were used to identify all published case reports of NA. Data were collected from each case report on patient characteristics. RESULTS: The systematic review identified 56 publications and 85 patients (including ours): nearly the same number of males (n = 41) and females (n = 44). The mean age was 50,69. Presentations included reduction of mobility (n = 66), swelling (n = 61) and sensory disorder (n = 63). The pain was absent in 41 cases. In the majority of reported cases 56 (65.1%), syringomyelia was revealed by neuropathic arthropathy, and eleven patients (12.9%) had a history of syringomyelia. Treatment was categorized into non-operative management (37[43.5%]), operative management (27[31.7%]). Following-up was non-reported in 31 (36%) cases. Improvement was reported more with patients who underwent a surgical approach than medical one 28.5% versus 8.1%. CONCLUSION: Physicians need to be more aware of this destructive joint disease, rare, and often misdiagnosed. Also, it is imperative to integrate clinical, pathological, and imaging findings for accurate diagnosis and for delivering appropriate therapy.

[Clinical Features and Prognosis Factors of Spinal Tuberculosis in Northern Tunisia: A Case Series of 60 Patients]. / Profil clinique et facteurs pronostiques du mal de Pott au nord de la Tunisie : à propos de 60 cas.

Spondylodiscitis is a common but potentially serious form of extra-pulmonary tuberculosis. Very few descriptions are known from Tunisia. We have conducted a retrospective study including 60 cases of spinal tuberculosis, performed over a period of 20 years (1996-2016). The diagnosis was retained on bacteriological, radiological and anatomopathologic evidence. Sixty cases including 31 women and 29 men of spinal tuberculosis were involved. The mean age was 54.4 ±â€…21.3 years. The delay from onset to diagnosis was 6 months (1-14). Lumbar region was the most common infection site (68%). The magnetic resonance imaging has confirmed spinal infection in all cases. The percutaneous image guided spinal biopsy was conclusive in 24/42 cases (57.1%). All patients were put under anti-tuberculosis treatment with total treatment duration of 14 months. Fourteen patients underwent surgical act. The outcome was favorable in 42 cases (7%). Advanced age ≥ 65 years (P = 0.026), radiological evidence of spinal cord compression (P = 0.033) or abscess (P = 0.024), hyperleucocytosis higher than 11,500 elements/mm3 (0.031), or fractures on bone imaging (P = 0.018) and vertebral deformity (P < 0.001) were strongly linked to a bad outcome. Early diagnosis and treatment onset may ensure better outcomes and reduce neurological complications and vertebral deformity.

La spondylodiscite est une forme fréquente et potentiellement grave de tuberculose extrapulmonaire. Elle n'a été que peu décrite en Tunisie. Nous avons mené une étude rétrospective portant sur 60 cas de spondylodiscite tuberculeuse (SPDT) colligés sur une période de 20 ans (1996­2016) dans un centre hospitalier universitaire au nord de la Tunisie. Le diagnostic a été retenu sur des preuves bactériologiques, anatomopathologiques et radiologiques. Il s'agit de 31 femmes et de 29 hommes âgés en moyenne de 54,4 ±â€…21,3 ans. Le délai moyen de diagnostic était de six mois (1­14 mois). L'étage lombaire était le plus touché (68 %). L'imagerie par résonance magnétique était évocatrice du diagnostic dans tous les cas. La ponction-biopsie discovertébrale a permis de porter le diagnostic dans 24/42 cas (57,1 %), fondé sur des preuves histologiques. Tous les patients ont reçu un traitement antituberculeux d'une durée moyenne de 14 mois, associé à un geste interventionnel dans 14 cas. L'évolution était favorable dans 42 cas (70 %). Les facteurs de mauvais pronostic étaient l'âge avancé de plus de 65 ans (p = 0,026), la présence de signes radiologiques de compression médullaire (p = 0,033) ou d'abcès paravertébral (p = 0,024), l'hyperleucocytose initiale supérieure ou égale à 11 500 éléments/mm3 (p = 0,031), la présence de fracture vertébrale (p = 0,018) et d'une déformation vertébrale (p < 0,001). La SPDT est une maladie insidieuse dont le diagnostic et le traitement précoces sont la clé pour éviter les complications neurologiques et ostéoarticulaires.

Clinical and diagnostic features of trochanteric tuberculosis.

Trochanteric tuberculosis is a very rare localization of musculo-skeletal tuberculosis. The diagnosis is difficult and is often made in a late stage. The authors describe five cases of trochanteric tuberculosis. The mean age of patients was 46.6 years. Time to diagnosis was long (7.6 months on average). The tuberculosis was plurifocal in all cases. Diagnosis was based on positive Lowenstein culture in one case, on the presence of caseum granuloma in one case and through a pathognommonic manifestation in one case. For the remaining two cases, diagnosis was established on clinical and paraclinical arguments. The patients recovered after medical treatment alone.

[Brown tumor as an exceptional origin of lumbocruralgia with favourable outcome]. / La tumeur brune : cause exceptionnelle de lombo-cruralgie à évolution favorable.

INTRODUCTION: We report a case of a particular lumbar and radicular pain revealing primary hyperparathyroidism and discuss its characteristics through a literature review. CASE REPORT: A 55-year-old woman was hospitalized for a nerve root pain associated with recent weight loss with normal physical examination. Biology showed no evidence for acute phase response and normal kidney and liver functions. However, hypercalcemia and hypophosphatemia were evidenced. Radiographs of the lumbar spine showed a lytic lesion occupying the body of L4. A lumbar spine CT scan confirmed the presence of a compressive nerve root brown tumor. High level of PTH and parathyroid mass raised the possibility of the diagnosis of primary hyperparathyroidism. After parathyroidectomy all signs of hyperparathyroidism resolved with complete disappearance of spinal brown tumors in a two year follow-up CT scan. CONCLUSION: Although uncommon, brown tumor should be a diagnosis to consider in their presence of a spinal tumor. The improvement after conservative treatment could be dramatic.

Hepatocellular carcinoma with polymyositis as an initial symptom: a case report.

Patients with hepatocellular carcinoma may manifest paraneoplastic syndromes such as hypercholesterolaemia, hypoglycaemia, hypercalcaemia and erythrocytosis. An exceptional case of hepatocellular carcinoma associated with polymyositis, a rheumatic paraneoplastic syndrome, is reported. A 72-year-old male complained for a recent muscular weakness mainly in the proximal limb muscles. The clinical course, a raised level of serum creatine kinase and electromyographic findings suggested polymyositis, and the pathological findings on muscle biopsy were compatible with this diagnosis. Computed tomography of the upper abdomen revealed a mass lesion in segment IV, V and VII of the liver, and alpha foetoprotein level was high, resulting in the diagnosis of hepatocellular carcinoma.

Association of specific amino acid sequence (QRRAA) of HLA-DRB1*0405 with rheumatoid arthritis in a Tunisian population.

This study aimed to investigate HLA-DRB1 alleles in rheumatoid arthritis (RA) patients from Tunisia and to examine the effect of these alleles on disease severity. HLA-DRBI alleles and sub-typing of DRBI*04 and *01 were determined in 90 patients and 100 healthy controls, by PCR-SSP. HLA-DRB1*04 was significantly higher in patients (51.1%) than in controls (27%) [OR=2.83, p=0.00066]. DRBJ*0405 was found to be the unique DR4 allele associated with RA (28.88% vs 6%) [OR=6.36, p=0.000059]. A significant decrease in the frequency of HLA-DRB1*0701 was observed in RA patients (16.66%) compared to controls (36%) [p=0.0026]. However, the frequency of patients carrying the shared epitope (SE) QRRAA, was slightly increased compared with controls (37.8% vs 23%) [OR=2.03, p=0.039]. We found that the presence of rheumatoid factor, HLA-DR4 and HLA-DRBI*0405 were not significantly associated with bone erosions or the presence of extra-joint involvement. In our population, the SE (QRRAA) expressed in DRBI*04 alleles is related to the susceptibility to RA but it is not involved in RA severity in Tunisia, while DRBI*0701 might protect against this disease.

Functional polymorphisms of PTPN22 and FcgR genes in Tunisian patients with rheumatoid arthritis.

To investigate a possible association between functional polymorphisms of the protein tyrosine phosphatase nonreceptor type 22 (PTPN22-R620W) and receptors for the Fc fragment of IgG (FcgRIIa-H131R, FcgRIIIa-F158V FcgRIIIb-NA1/NA2), and rheumatoid arthritis (RA), 133 Tunisian patients with RA and 100 controls were genotyped. We found strong evidence of an association of PTPN22 620W allele and RA. However, analysis does not detect an association between auto-antibodies seropositivity, presence of nodules or erosions and this allele. No significant skewing of any of the three FcgR polymorphisms was seen in this RA group. Nevertheless, we identified FcgRIIIa-V/V158 as the most important FcgR genotype for severe disease subset with joint erosions and observed that patients with FcgRIIIb-NA2/NA2 genotype had an earlier incidence of clinical symptoms. In conclusion, we have confirmed that PTPN22 620W allele is associated with Tunisian RA but does not constitute a factor influencing clinical manifestations. Conversely, this study supports that the FcgRIIa/IIIa and IIIb polymorphisms could influence the course and the severity of this disease. A large number of samples are required to provide independent confirmation of these findings.