Epileptic encephalopathy and amelogenesis imperfecta: What about KohlschüttereTönz syndrome? Case report and literature review.

BACKGROUND: KohlschüttereTönz syndrome (KTS), also called amelo-cerebro-hypohidrotic syndrome, is a very rare genetic condition, described for the first time by Kohlschutter, which typically manifests as a triad of symptoms:  amelogenesis imperfecta, infantile onset epilepsy, and intellectual disability. 47 cases were reported in English language literature since 1974-2021. CASE REPORT: A 7-year-old girl was referred for dental evaluation. Oral examination revealed yellowish color of all the teeth due to enamel hypoplasia. The radiographic exam revealed a thin layer of enamel with decreased radiopacity of the enamel compared to that of dentin. The diagnosis of amelogenesis Imperfecta was established. In addition to that, the child's parents reported that she had spasticity, epileptic seizures and psychomotor developmental delay. The association of all these features leads us to conclude to KTS. CONCLUSION: It seems that numerous cases of KTS are still undiagnosed in the world, so this paper highlights the common clinical features of Kohlschütter-Tönz Syndrome helping to an early diagnosis and more research about this condition.

Spinal Tuberculosis: Features and Early Predictive Factors of Poor Outcomes.

Introduction: Tuberculosis is still endemic in Tunisia. Among musculoskeletal involvement, spinal tuberculosis (STB) or «Pott's Disease¼ is the most common and can lead to serious neurological complications. The purpose of our study was to focus on STB features (clinical, biological, and radiological) and to identify factors associated with early unfavorable outcomes. Methods: This was a monocentric retrospective study, over a period of 20 years (2000-2020). Only patients treated appropriately were included. Patients' informations were noted. We defined the favorable outcome criterion as weight gain, apyrexia, improvement of the general state, relief of pain, improvement in the classic inflammatory markers (CRP), and absence of vertebral deformities, neurological impairment, or sepsis. The outcome was considered unfavorable otherwise. Results: Our study involved 52 patients. Their average age was 55.21 years±17.79. The average symptom duration was 8.9 months±6.54. Spinal pain was the most common functional sign (90.4%) often inflammatory. Physical signs were dominated by segmental spinal stiffness (71.2%). Spinal magnetic resonance imaging was performed in 38 patients. The disco-vertebral biopsy puncture confirmed the diagnosis in 15 cases. All patients received anti-tuberculosis treatments with an average duration of 10.02±1.97months. The outcome at one month of follow-up was favorable in 32 cases. Poor prognosis factors were normochromic normocytic anaemia (p=0.018), initial lymphocytosis (p=0.048), and fever (p=0.01). However, vertebral fracture at standard X-ray was predictive of favorable outcome (p=0.001). Conclusion: STB is a frequent condition that needs to be treated rapidly. Poor prognosis factors were identified in this study such as normocytic normochromic anemia, initial lymphocytosis, and fever at baseline.

Focal Segmental Glomerulosclerosis and Hyalinosis in a Patient with Spondyloarthritis: A Rare Renal Involvement Case Report.

Background: During its course, spondyloarthritis (SpA) may be associated with extra-articular manifestations affecting several organs. Renal involvement is one of the most common extra-articular manifestations and is dominated by secondary amyloidosis (AA), immunoglobulin A (IgA) nephropathy, and urolithiasis. Other nephropathies such as Focal segmental glomerulosclerosis and hyalinosis (FSGS) are less common and are limited to few case reports. Case: We report the case of a patient followed for axial SpA, who consulted, after being lost to follow-up for 3 years, for elevated blood pressure and edema of both lower limbs associated with an hydrocele and bilateral pleural effusion. Biological examinations showed hypoproteinemia, hypoalbuminemia, and proteinuria. In this context of nephrotic syndrome, the diagnosis of FSGS was confirmed by renal biopsy. Furthermore, the etiological investigation ruled out the causes of secondary FSGS. Conclusion: Renal involvement is a sign of severity in SpA. Its detection and management should be part of the overall management of SpA.

Assessment Tools for Pulmonary Involvement in Patients with Ankylosing Spondylitis: Is Diaphragmatic Ultrasonography Correlated to Spirometry?

Objective: Spondyloarthritis (SpA) is a chronic inflammatory rheumatic disease that can lead to spinal ankylosis and consequently, restrictive pulmonary dysfunction. Thus, the present study aimed to assess the accuracy of diaphragm ultrasound compared to spirometry in the screening of restrictive pulmonary disorders in radiographic SpA patients. Methods: We conducted a cross-sectional study of 50 patients with radiographic SpA, over six months. Sociodemographic data, clinical characteristics of the disease, as well as biological, radiological, and therapeutic data, were collected. Spirometry and diaphragm ultrasound were performed. Results: The mean age of the study participants (N= 50) was 42.7±11 years [range: 25-66] with male predominance (N= 41). Spirometry showed a restrictive disorder in 32% of cases. The mean chest expansion (CE) value was 3.9±1.81cm [range: 1-9] with a median of 4 cm. A pathological value (<5cm) was observed in 72% of cases. A significant positive correlation was found between the right inspiratory diaphragmatic thickness and forced vital capacity (FVC) (r= 0.36; p = 0.02) and the supine FVC (r=0.29; p = 0.04). The left inspiratory diaphragmatic thickness was correlated with the percentage of the FVC decrease (r= 0.35; p = 0.01) defined as the percentage of difference between FVC and supine FVC. The right expiratory diaphragmatic thickness was associated with the FVC (r=0.32; p = 0.02). A significant positive correlation was found between the CE and the presence of B lines (r=0.32; p = 0.02), but not between the CE and the FVC. Conclusion: The present study showed that diaphragm ultrasonography is correlated with spirometric findings in radiographic SpA patients. Further studies are required to assess its reliability, specificity, and sensitivity in this pathology.

Low Back Pain Among Students of Medical University of Tunis.

OBJECTIVE: Low Back Pain (LBP) is the most common musculoskeletal disorder among working adults. It is one of the most prevalent complaints among students. Medical students are among those who are most exposed to this condition; due to stress, numerous hours of studying, and the sedentary lifestyle. Our study aimed to determine the prevalence and associated factors of LBP among the students of Tunis Faculty of Medicine and to assess its impact on student life. METHODS: This cross-sectional study was carried out on the Tunis Faculty of Medicine students. Data were collected through an online self-administered questionnaire. Sociodemographic, personal, and lifestyle characteristics were collected. LBP was assessed using the Nordic Musculoskeletal Health Questionnaire and Its impact using the Oswestry Disability Index (ODI). RESULTS: One hundred and forty-eight students were included. The mean age was 22.9 ± 2.3 years (19.64-38.21). The sex ratio was 0.29. According to the Nordic questionnaire, the point, annual and lifetime prevalence of LBP were 37.8%, 80.4%, and 90.5%, respectively. The mean ODI score was 10.32 ± 8.48 % (0-32). The ODI score was minimal in 87.3% and moderated in 12.7% of cases. The associated factors with LBP were: young age (p = 0.015), spending more than 4 hours in a sitting position (p = 0.059), second cycle of medical studies (p = 0.006), low screen projection in the amphitheater (p = 0.029) and poor layout of the amphitheatres (p = 0.000). The feeling of depression was significantly higher among LBP students (p = 0.018). In the multivariate analysis, the factors that remained statistically significant were the second cycle of medical studies (OR= 3.41), feeling of depression (OR = 3.7), and the belief in the responsibility for the poor layout of the amphitheaters in the genesis or maintenance of LBP (OR = 7.66). CONCLUSION: LBP in medical students is multifactorial across both personal and college-life domains.

Foot Functional Disability in Rheumatoid Arthritis: The Involvement of Body Mass Index.

INTRODUCTION: Overweight and obesity are common in patients with Rheumatoid Arthritis (RA), with a probable impact on bearing foot joints. AIM: Our study aimed to explore the impact of Body Mass Index (BMI) on foot health parameters in RA patients. METHODS: It was a cross-sectional study. Domains of foot health explored were: foot pain (Numeric Rating Scale), foot-related activity limitations (Foot Function Index (FFI), and WOMAC scale), foot synovitis, foot deformity (Platto Score (PS)), radiological joint damage and footwear problems. RESULTS: Fifty RA were included, 82% were female. The mean age was 45.68 ± 10.3 years. The mean DAS28-CRP was 3.25 ± 0.98. Sixty-six percent were overweight or obese, with a mean BMI of 29 Kg/m2 ± 5.74. The average foot pain intensity while walking was 6 ± 1.75. The mean swollen foot joint was 2.2 ± 1.55. The average foot structural index was 7.8 ± 2.73. The mean FFI Disability score was 32 ± 14.2 and WOMAC score was 33.8 ± 13.98. Half of our patients had footwear problems predominantly because of claw toe (40%). High BMI was significantly correlated with foot pain and foot-related activity limitations. It was also correlated with foot deformities assessed with PS (B=4.78; CI(3.87-5.68); p = 0.02), foot synovitis (OR=4.66, CI(2.61-8.32); p < 0.001) and problems with footwear (OR= 0.32; CI(0.18-0.56); p = 0.05). However, it was significantly associated with less radiological joint damage (CI(-0.7-1.1); p = 0.01) and lower foot sharp score (B = -13.9; CI(-0.34-0.01); P = 0.06). CONCLUSION: Despite our findings of a possible protective effect of obesity on structural damage, obesity is still an important cause of increased pain, functional disability, and impaired QoL in RA patients.

Influencing Factors in Tunisian Rheumatoid Arthritis Patients' Quality of Life: Burden and Solutions.

BACKGROUND: Rheumatoid Arthritis (RA) is a disease with a heavy functional, psychological, and socioeconomic impact. The management of Quality of Life (QoL) as a therapeutic objective is a fairly recent notion, especially in Tunisia. We aimed to evaluate QoL in RA patients and to identify its affecting factors. METHODS: This was a cross-sectional study in a Tunisian rheumatology center. To assess QoL, we used the Short Form Health Survey (SF-36) and the Arthritis Impact Measurement Scales Short Form (AIMS2-SF). Health Assessment Questionnaire Disability Index (HAQ), the Hospital Anxiety and Depression Scale (HAD) for psychological disorders, Visual Analog Scale for Pain (VAS Pain), and for fatigue (VAS Fatigue) were also used. Disease activity was assessed by the Disease Activity Score (DAS28 CRP). RESULTS: We enrolled 120 established RA, the mean age of our patients was 56.9 ± 11.4 years, with a predominance of women (83.3%). The mean disease duration was 10.97 ± 7.7 years. According to the HAD scale, 27% of our patients presented anxiety, and 26.7% had depressive disorders. There was significantly impaired QoL in patients with low educational level, dependent financial situation, long disease duration, high disease activity, high pain and fatigue levels, poor therapeutic education, functional disability, and psychological disorders (p < 0.001). A strong negative correlation was detected between inflammatory markers, structural damage, and the scores of QoL. Patients under biologics scored significantly higher in the SF36 mental health domain (p < 0.001). CONCLUSION: QoL is significantly poor in Tunisian RA. These patients should be managed using a multidisciplinary approach involving the patients themselves.

Ultrasonography Enthesitis and Synovitis Screening in Psoriatic Patients: A Case Control Study.

Background: The clinical screening of enthesitis and synovitis in patients with psoriasis lacks specificity and sensitivity during the preclinical phase. Aims: to assess US subclinical synovitis and enthesitis in psoriatic patients compared with healthy controls. Methods: A cross-sectional study on 40 psoriatic patients and 40 healthy sex- and age-matched controls. US examination of 18 joints was performed along with 22 entheseal sites on the upper and lower limbs. US subscores were established according to the US abnormalities: inflammatory score (tendon thickening, hypoechogenicity, bursitis, Doppler signal), damage score (calcification, enthesophytes, bone erosion) and total score (the sum of inflammatory and damage scores). Results: US synovitis were more frequent in psoriatic patients (0.68%) than in controls (0.29%), but the difference was not significant. Patients with psoriasis had more US enthesitis (92,5%) compared to controls (40%)(p<0.001). The total number of enthesitis was higher in the psoriatic group (20.90%) compared to controls (4,78%)(p<0.001). There were more US abnormalities in the psoriatic group compared to controls for calcaneal tendon enthesis(p<0.001), distal patellar tendon enthesis(p<0.001) and deep flexor tendons of the finger enthesis(p<0.001). Compared to controls, psoriatic patients had a significantly higher inflammatory score (Mean±SD) (2.85±3.34 versus 0.58±1.17), damage score (3±2.57 versus 0.60±1.41), and total score (5.85±5.20 versus 1.18±2.07) (p < 0.001 each). Patients with scalp psoriasis had more US enthesitis (p=0.020). Conclusion: Our results indicate that US enthesitis and synovitis are more frequent in patients with psoriasis. Prospective studies with larger sample size are needed to define the contribution of US in predicting the clinical onset of PsA.

Unknown Extra-Articular Manifestation of Spondyloarthritis: What About Retroperitoneal Fibrosis? A Case Based Literature Review.

INTRODUCTION: Retroperitoneal fibrosis (RPF) is a rare disease characterized by fibroinflammatory tissue proliferation in the retroperitoneum. It results in a chronic inflammatory and fibrosis condition, possibly leading to compression of the retroperitoneal structures, especially to encasement of the ureters and the inferior vena cava. It may have an idiopathic or a secondary origin. Spondyloarthritis (SpA) is one of the rare conditions described among the secondary forms. CASE PRESENTATION: Herein, we report a new case of RPF in a patient with AS presented with acute abdominal pain radiating to the lumbar region and the left testicle. On clinical examination, we found a mild stiffness of the lumbar spine and a decrease in chest expansion. Sacroiliac joint pain was also found. The rest of the physical examination was normal. Laboratory tests showed inflammation with increased C-reactive protein (130 mg/l) and creatinine (112 micromol/l) levels. The computed tomography scan revealed a soft tissue density mass located around the sub-renal aorta. Diagnosis of idiopathic RPF associated with AS was retained. The patient was treated with a daily dosage of 1 mg/kg of oral glucocorticoid with a good outcome. CONCLUSION: RPF is a rare condition that can be either idiopathic or secondary. Its association with spondyloarthritis, mainly in its ankylosing spondylitis form, seems to be more than anectodal. Treatment may involve medical therapy and/or surgical management. KEY MESSAGE: In the presence of back pain, fatigue, weight loss, and low grade fever in spondyloarthritis patients, physicians should screen for retroperitoneal fibrosis as it could be a possible cause.

The effects of autoimmune rheumatic-related diseases on male reproductive health: A systematic review.

Autoimmune rheumatic-related diseases (ARRDs) have physical and psychological impact on patients, including their sexual life. While many studies have investigated fertility problems in females, data on males-related fertility are scarce, which explains the lack of guidance. The main objective of this systematic review was to evaluate the reproductive health in males with ARRDs. This systematic review followed the preferred reporting items for systematic reviews guidelines. Original articles from Pubmed and Scopus, published until September 16, 2021, and tackling the effects of ARRDs and/or ARRDs treatments on male fertility and/or pregnancy outcomes, were included. A total of twenty-five studies met the inclusion criteria. They were published between 1981 and 2018. The studied ARRDs were spondyloarthritis (n = 9), systematic lupus erythematosus (SLE, n = 6), Behcet disease (BD, n = 5), rheumatoid arthritis (RA, n = 5), antiphospholipid syndrome (n = 1), and dermatomyositis (n = 1). The most reported effects of ARRDs on fertility are i) high levels of reproductive hormones, mainly in RA and SLE; ii) impaired semen quality in SLE, spondyloarthritis, and BD; and iii) higher rate of varicocele in BD and spondyloarthritis. Regarding the treatments effects, i) conventional synthetic disease-modifying anti-rheumatic drugs (e.g.; methotrexate and salazopyrine) increase testosterone level, ii) cyclophosphamide impairs fertility, iii) anti-tumor necrosis factor agents are associated with improvement in semen quality, and iv) no increased number of miscarriages or congenital abnormalities in children fathered by BD was reported. To conclude, both ARRDs and their treatments alter fertility in males with ARRDs. In practice, in addition to the conventional semen analysis, screening for infertility seems legitimate in males with ARRDs.

Poor work outcomes in patients with spondyloarthritis: causes, consequences, and solutions.

BACKGROUND: Spondyloarthritis (SpA) affects patients in the prime of their economic productivity and can cause loss of work productivity and unemployment. We aim to identify factors associated with poor work outcomes in patients with SpA. METHODS: A cross-sectional study was performed in 100 patients with SpA who were employed, retired, or off work because of SpA. Data on sociodemographic and professional characteristics were collected as well as specific indices: BASDAI, ASDAS-CRP, BASFI, and BASMI. Work productivity in employed patients was assessed by the Work Productivity and Activity Impairment scale (WPAI:SpA). RESULTS: Patients were divided into 73 men and 27 women; the mean age was 43.68 ± 10.3 years. Fifty-nine percent of patients were employed and 26% were off work. The average disease duration was 12.24 ± 8.73 years. The mean BASDAI score was 4.4 ± 2.4, the average BASFI score was 4.6 ± 2.7, and the average ASDAS-CRP score was 2.77 ± 1.18. The mean BASMI was 4.4 ± 2.8. Among employed patients, the mean of absenteeism, presenteeism, and work productivity loss was 21.8 ± 33.13%, 42 ± 32%, and 46.5 ± 35.31%, respectively. In multivariable analysis, absenteeism was associated with ASDAS ≥ 2.1 (ß = 20.14), peripheral joint involvement (ß = 15.6), manual work (ß = 14.31), low level of education (ß = 7.92), and BASFI ≥ 4 (ß = 6.39). Presenteeism and work productivity loss were associated with manual work, BASFI ≥ , body mass index ≥ 25 kg/m2, smoking, the use of symptomatic treatment, and ASDAS-CRP ≥ 2.1. CONCLUSION: Spondyloarthritis affects work productivity. Screening for predictive factors should be considered by the clinician in the overall management of the disease. Key Points • SpA occurs among young and active patients; it could affect their professional lives and thus lead to loss of work productivity and unemployment. • The management of patients with SpA must be multidisciplinary; this includes assessing contextual factors in order to act on modifiable factors such as smoking and BMI, optimal management of the disease to maintain at least a low disease activity, and to ensure workstation layout and elimination of professional constraints that can affect work outcomes in patients with SpA.

Case Report: Extensive digital gangrene as a primary manifestation of late-onset systemic lupus erythematosus.

Background: Digital gangrene is a rare but serious complication of systemic lupus erythematosus (SLE). It occurs usually in middle-aged patients with longer disease duration. Case: Herein we report the case of a 56-year-old man (with no history suggestive of Raynaud's phenomenon, diabetes mellitus, smoking, trauma, infection, or chemical exposure), who presented with SLE and digital gangrene was among the first signs. He presented with a one-month history of joint pain, hair loss, photosensitivity, mouth ulcers, malar rash, dyspnea, and digital pain. Physical examination revealed painful and diffuse erythematous skin lesions in the extremities and back, as well as cyanosis in the fingers. We noted lymphocytopenia (600 cells/mm 3), and an elevated C-reactive protein (15.1 mg/l) on laboratory tests. Immunological tests were positive for antinuclear antibodies (ANA) with Title 1:400. Pulmonary computed tomography revealed pulmonary fibrosis, and pulmonary function tests revealed the restrictive pulmonary disease. Diagnosis of SLE with lung involvement was retained. The immunological assessment in search of elements in favor of a vascular origin of the patient's skin lesions was negative. Treatment was initiated with 200 mg/day hydroxychloroquine. For dermal and pulmonary involvement, intravenous (IV) pulse therapy was used with methylprednisolone (1,000 mg/d for three consecutive days monthly) and cyclophosphamide (1 g/month). Calcium blocking agents were also prescribed. However, the lesions did not improve. The patient was given two infusions of rituximab (1 g) at a 14-day interval with a marked improvement ofthe majority of vasculitis lesions, and a partial improvement of dyspnea. Conclusions: Digital gangrene is a rare complication of late-onset SLE, especially as a primary manifestation.

Primitive pelvic bone hydatidosis: What an amazing extension.

Hydatidosis is an anthropozoonosis mainly encountered in pastoral areas. It mostly affects the liver, lung, and rarely the bone and the soft tissues. Skeletal involvement is usually secondary to visceral hydatidosis. We report a case of a 49-year-old man presenting with one-year history of a progressive left hip pain. On local examination, there was tenderness in the left gluteal region with reduction in the hip range of motion. Pelvic X-ray revealed an expansive bone destruction involving the left hemi pelvis without periosteal reaction. A magnetic resonance imaging showed multiple cystic lesions extending from pelvic bones to the gluteal region. The possibility of hydatid disease was raised, and hydatid serology test was positive. No visceral involvement was found by additional examinations investigations revealed visceral hydatidosis. Thus, the diagnosis of a primary bone hydatid disease was established. No surgical excision was possible, and the patient was put on Albendazole. Echinococcosis should be ruled out while dealing with progressive expansive bony lesions. Surgical management remains a challenge especially if the involvement is very extensive.

Acute transverse myelitis revealing ankylosing spondylitis: A case report and literature review.

When faced with a patient with acute myelopathy, thorough investigations should be undertaken to determine the cause. Ankylosing spondylitis should be kept in mind as a possible cause.

A Rare Case of Hypophosphataemic Osteomalacia in von Recklinghausen Neurofibromatosis.

BACKGROUND: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a one of the more common hereditary autosomal disorders. However, osteomalacia in neurofibromatosis type 1 is very rare tumour-induced osteomalacia; fibroblast growth factor-23 is usually implicated. PATIENTS AND METHODS: We report the case of a patient with a history of von Recklinghausen neurofibromatosis who presented with hypophosphataemic osteomalacia. RESULTS: The patient was treated with high-dose calcitriol and oral phosphate with clinical improvement. CONCLUSION: Even though it is a rare entity, we must consider the diagnosis of hypophosphataemic osteomalacia in patients with neurofibromatosis in order to deliver appropriate treatment. LEARNING POINTS: Osteomalacia during von Recklinghausen disease is a rare presentation of an uncommon condition and has a poorly understood mechanism.The treatment of oncogenic osteomalacia includes tumour removal which, however, is not always possible.Administration of calcitriol alone is not sufficient and phosphorus intake is mandatory to improve symptoms.

Multifocal tuberculosis on certolizumab pegol in a patient followed for rheumatoid arthritis.

Tuberculosis must be considered in front of deterioration in general condition in patient with rheumatic disease under biological therapy. Rheumatologists may pay attention and screen infections before and after prescribing biological therapy.

Tachon Syndrome: Rare Side Effect of Articular Injections of Corticosteroids. A Report of Two Cases.

Epidural or intra-articular injections of corticosteroids are an option for the treatment of several pain conditions but are not without adverse effects. Here, we discuss a rare systemic side effect of this therapy: Tachon syndrome. We report two cases, a 64-year-old woman and a 43-year-old man, who presented with Tachon syndrome after receiving, respectively, a shoulder and a lumbar injection of cortivazol 3.75 mg/1.5 ml suspension for injection in pre-filled syringes. The indication for this therapy was, respectively, tendinopathy of the supraspinatus and a mechanical L5 lumbosciatica. A few minutes after receiving the injection, patients experienced acute low back pain, chest tightness, facial erythema and profuse sweating. All vital and biologic parameters were normal. In the first case, improvement was spontaneous and all symptoms resolved in 20 min. The second patient remained under observation and received an intravenous 'physiological' infusion. Both patients recovered fully and returned home. A causal relationship between the corticosteroid injections and the patients' symptoms was very likely because of the acute clinical presentation and the rapid improvement in the patients' conditions and that no further signs indicating other serious complications developed.