Taoufik Harzy

An unusual case of osteomalacia as the presenting feature of coeliac disease

Coeliac disease or gluten-sensitive enteropathy is a heritable inflammatory process of the small intestine resulting from a genetically-based immunologic intolerance to gluten [1]. Classically, the disease manifests with diarrhoea, sometimes steatorrhoea, weight loss and complications caused by anaemia [1, 2]. There are very few reports of osteomalacia as the presenting symptom, and even fewer of osteomalacia as the only symptom of coeliac disease at presentation [2]. The purpose of our study is to describe a particular case of osteomalacia revealing a coeliac disease.

Idiopathic hypoparathyroidism and adhesive capsulitis of the shoulder in two first-degree relatives.

INTRODUCTION Primary hypoparathyroidism and adhesive capsulitis of the shoulder in the same patient does not seem to have been reported previously. We report two cases in first-degree relatives. PATIENTS Case 1: In 1999, a 41-year-old woman experienced seizures simulating epilepsy. She had been treated 5 years earlier for idiopathic adhesive capsulitis of both shoulders. Computed tomography of the brain showed calcifications in the basal ganglia meeting criteria for Fahrs disease, and incipient bilateral cataract was found. A diagnosis of idiopathic primary hypoparathyroidism was given. After 1 month of calcium and vitamin D supplementation, improvements were noted in the clinical symptoms, laboratory test, and electroencephalogram. Case 2: The 70-year-old father of case 1, who had an unremarkable medical history, had been receiving treatment for about 2 years for adhesive capsulitis of the left shoulder. Routine laboratory tests disclosed idiopathic primary hypoparathyroidism. The outcome was favorable with calcium and vitamin D supplementation. CONCLUSION Our cases suggest that there may be a common immunological or genetic basis for primary hypoparathyroidism and adhesive capsulitis. Alternatively, adhesive capsulitis may be a manifestation of hypoparathyroidism. Although genetic factors involved in primary hypoparathyroidism have been elucidated, the pathophysiology of the disease remains unclear. Finally, a chance association remains possible.

Ankylosing spondylitis associated with Sweet’s syndrome: a case report

IntroductionSweet’s syndrome is an acute neutrophilic dermatosis characterized by a diffuse dermal infiltrate of mature neutrophils. In most cases, it occurs as an isolated phenomenon (idiopathic Sweet’s syndrome) but it can be drug induced or associated with a variety of underlying diseases such as infections, neoplasms, and chronic inflammatory diseases. The association between Sweet’s syndrome and ankylosing spondylitis is rare. Only a few cases have been reported in the literature. We report a new case in which we describe an outbreak of acute neutrophilic dermatosis revealing ankylosing spondylitis.Case presentationA 33-year-old Moroccan man presented with large-joint polyarthralgia, inflammatory pain in his buttocks and lower lumbar spine, fever and skin lesions. On examination, the patient had a low-grade fever, six tender but not swollen joints, limitation of motion of the lumbar spine, and painful erythematous maculopapules over his face, neck, and hands. Laboratory tests showed hyperleukocytosis, and elevated erythrocyte sedimentation rate and C-reactive protein. The immunological tests and infectious disease markers were negative. Investigations for an underlying neoplastic disease remained negative. Magnetic resonance imaging showed a bilateral sacroiliitis. Skin biopsy findings were consistent with Sweet’s syndrome. The diagnosis of Sweet’s syndrome associated with ankylosing spondylitis was established. Nonsteroid anti-inflammatory drugs were started and the patient showed rapid clinical and biological improvement.ConclusionThree observations of the association between Sweet’s syndrome and spondylarthropathy have been reported in the literature. The cause of this association remains unclear. Some hypotheses have been developed, but further studies are needed to confirm or refute them.

Bilateral pigmented villonodular synovitis of the knee

Joint Bone Spine - In Press.Proof corrected by the author Available online since mercredi 13 octobre 2010

Diffuse uremic tumoral calcinosis in a patient on long-term hemodialysis.

Tumoral calcinosis is an uncommon and severe complication of hemodialysis therapy. The most important pathogenic factor involved in uremic tumoral calcinosis is an increase in calcium-phosphorus product, not necessarily related to hyperparathyroidism. We report here a patient on hemodialysis who presented with increasing multifocal and uncommon sites of massive calcifications. The patient was examined, and a diagnosis of uremic tumor calcinosis was made. The patient was treated with the noncalcemic phosphate binder sevelamer, a strict diet, multiple hemodialysis sessions per week, and a low calcium dialysate, with improvement on biological findings a decrease in the volume of some tumors on his fingers and a global stable disease. Some nodes in hands and feet disappeared; in other sites, their diameter was reduced, and the largest nodule decreased from 5- to 2-cm diameter.

Proximal symphalangism and premature ovarian failure.

Proximal symphalangism is a rare autosomal dominant affection responsible for multiple joint ankylosis, it results from NOG gene mutation whose locus is on 17q21-22. This gene may be involved in secretory functions of glands such as ovarian function. Premature ovarian failure is idiopathic in 80% of cases but may be secondary to multiple etiologies including genetic. We report the case of a patient with proximal symphalangism and premature ovarian failure, and we discuss the possibility of genetic relationship between the two anomalies.

Chronic tophaceous gout with unusual large tophi: case report

Gout is a metabolic disease, which is characterized by acute or chronic arthritis, and deposition of monosodium urate crystals in joint, bones, soft tissues, and kidneys. But large tophi are unusual in chronic gout. We report the case of a 67-year-oldArabman presenting chronic tophaceous gout with unusual large tophi involving multiple joints: hands, feet, elbows, and knees. Laboratory workup revealed elevated serum uric acid (96 mg/l, normal: 20-74 mg/l), with normal renal function test. In untreated patients, chronic tophaceous gout may develop, which is characterized by chronic destructive polyarticular involvement and tophi. The treatment consists to decrease serum uric acid level which eventually allows the regression of tophi.

Valproate-induced systemic lupus erythematous: A case report.

homogène et modérée (Savini et al., 2011). Il n’existe pas à ce jour de traitement de référence, plusieurs options thérapeutiques peuvent être discutées. La décompression chirurgicale permet un résultat immédiat ainsi qu’un diagnostic anatomopathologique, elle est préférentiellement indiquée chez les patients paraplégiques (Salehi et al., 2004 ; Dragean et al., 2011). Lorsque le déficit moteur est incomplet, on privilégie un traitement médical. Le tissu hématopoı̈étique étant radiosensible, la radiothérapie se révèle efficace (Salehi et al., 2004 ; Malik et al., 2007). Les doses utilisées sont faibles et ne comportent habituellement pas de risque de myélopathie postradique. L’hypertransfusion sanguine corrige l’anémie et l’hypersécrétion d’erithropoı̈étine, de cette façon les foyers ectopiques restent silencieux et/ou régressent (Salehi et al., 2004). Ce choix thérapeutique est d’autant plus efficace qu’il est associé à un agent cytoréducteur comme l’hydroxyurée (Bruneteau et al., 2000).

Rheumatic complications of long term treatment with hemodialysis

Patients undergoing hemodialysis therapy develop serious osteoarticular diseases. The treatment is based on prevention. The aim of our study is to determine the frequency and the associated factors to the rheumatic manifestations in hemodialysis patients. A cross-sectional study was conducted, including all hemodialysed patients in our dialysis unit. Information was obtained from patients’ symptoms, examination findings, and biological and radiological signs. The frequency of symptoms was 70% in our patients. It was proportional to the duration of hemodialysis and number of hemodialysis sessions per week. Early transplantation is of course a plausible solution, but other therapies such as improved dialysis must be considered.

Adult presentation of diastematomyelia: A case report

Joint Bone Spine - In Press.Proof corrected by the author Available online since samedi 14 mai 2011