Sphingolipidoses in Morocco: Chemical profiling for an affordable and rapid diagnosis strategy.

Sphingolipidoses are a group of metabolic diseases in which lysosomal hydrolases dysfunction disrupt normal sphingolipids' metabolism, leading to excess accumulation in cellular compartments and excretion in urine. These pathologies represent a significant burden among Moroccan population, for which an easy access to enzymatic assays and genetic tests is not guaranteed. Parallel analytical methods thus have to be developed for preliminary screening. In this study, 107 patients were addressed to the metabolic platform of the Marrakesh Faculty of Medicine for diagnosis confirmation. Thin-Layer Chromatography was used as a first step to perform chemical profiling of the patients' urinary lipids, allowing 36% of the patients to be efficiently oriented towards the adequate enzymatic assay. UPLC-MS/MS analyses of urinary sulfatides excreted in urines patient had been used to control the reliability of TLC analysis and to obtain more accurate information related to the sulfatides isoforms. This analytical process combining TLC with UPLC-MS/MS has enabled rapid and appropriate patient management in a reduced time and with reduced resources.

[Frequency and predictive factors of venous thrombosis in Behçet's disease]. / Fréquence et facteurs prédictifs de thrombose veineuse au cours de la maladie de Behçet.

OBJECTIVE: To investigate the clinical features of venous thrombosis in patients with Behçet's disease and to determine the patients at high risk for this complication. METHODS: We retrospectively studied patients with venous thrombosis (n = 157) who were followed up in the Internal Medicine department. These patients were divided into two groups according to the existence (n = 60, 38.2%) or not (n = 97, 61.8%) of Behçet disease. To find correlations between venous involvement and other manifestations of the disease, patients with Behçet's disease and venous thrombosis were compared to those without venous. RESULTS: Behçet's disease patients were younger (p = 0.020) and most often men (p < 0.01) compared with patients with venous thrombosis unrelated to Behçet disease. Unusual location was also more frequent in the Behçet's disease group, especially thrombosis of the superior and inferior vena cava (p = 0.030 and p = 0.013) and the suprahepatic veins (p = 0.006). Among Behçet's patients, those with venous thrombosis were more male (p = 0.003) and had less ocular and articular involvement (p < 0.001 and p = 0.004, respectively). CONCLUSION: Compared to patients without venous thrombosis, patients with Behcet's disease with venous thrombosis are younger, are predominantly male, have a lower frequency of ocular and articular involvement and present an unusual topography of the thrombosis.

[Extensive digital gangrene revealing late-onset systemic lupus erythematosus]. / Nécrose digitale extensive révélant un lupus systémique tardif.

INTRODUCTION: Late-onset systemic lupus erythematosus represents a specific sub-group of the disorder, beginning after 50 years of age. The incidence is rarer and the course of the disease is considered to be more benign. Digital gangrene is an uncommon complication of systemic lupus erythematosus reported especially among middle-aged patients with long disease duration. OBSERVATION: We report a 53-year-old man, who presented with systemic lupus erythematosus revealed by an extensive digital gangrene. CONCLUSION: Digital gangrene is a rare complication of late onset systemic lupus erythematosus. Clinicians should be aware of this complication in order to initiate early and aggressive treatment.

[Splanchnic venous thrombosis: A monocentric study of 31 cases]. / Les thromboses veineuses splanchniques: étude monocentrique de 31 cas.

INTRODUCTION: Splanchnic vein thrombosis (SVT) denotes thrombosis of the hepatic venous system and of the extrahepatic portal system. They are often the manifestation of one or more underlying prothrombotic states and can sometimes present problems of therapeutic care. METHODS: We report a monocentric study of 31 cases of SVT observed in an internal medicine department between January 2006 and June 2012. Epidemiological, clinical, laboratory, therapeutic and outcome data were analyzed. RESULTS: There was a slight female predominance (sex-ratio: 1.2). Median patient age at diagnosis was 37 years. Most cases of SVT were chronic (61.2%). Abdominal pain was the predominant symptom in acute cases while the predominant signs in chronic forms were signs of portal hypertension. Extrasplanchnic thrombosis was noted in seven patients (22.5%). Behçet's disease was the most common etiology (32%). The treatment was based on anticoagulants and corticosteroids and immunosuppressants when an inflammatory etiology was found. The average follow-up was 17 months. There were five deaths (16%). CONCLUSION: SVT often reflects the existence of a disease and/or an underlying prothrombotic state that should be identified to adapt the treatment and to avoid fatal complications.

Coexistence of renal artery stenosis, primary antiphospholipid syndrome and polycythaemia vera: an exceptional association.

Renal artery stenosis is the narrowing of the renal artery which causes hypertension and atrophy of the affected kidney, ultimately leading to renal failure if not treated and most often caused by atherosclerosis or fibromuscular dysplasia. Recently, renal artery stenosis has also been documented in patients with the antiphospholipid syndrome and in very few cases with myeloproliferative disease. In this paper, we describe a 31-year-old female with a history of gangrene affecting the toes with severe hypertension (200/110 mmHg), whose investigations revealed a combination of renal artery stenosis, primary antiphospholipid syndrome and polycythaemia vera.

[Acute polyradiculoneuropathy revealing systemic lupus erythematosus: an unusual presentation with fatal outcome]. / Polyradiculonévrite aiguë révélant un lupus érythémateux systémique : une présentation inhabituelle d'évolution fatale.

INTRODUCTION: Neurological manifestations of systemic lupus erythematosus are common and numerous. They mainly involve the central nervous system, peripheral involvement being rare. Acute polyradiculoneuropathy is very uncommon. CASE REPORT: We report a 44-year-old man, who presented with acute polyradiculoneuropathy revealing systemic lupus erythematosus. Outcome was fatal despite treatment with corticosteroids and immunoglobulin. CONCLUSION: Acute polyradiculoneuropathy is a very rare manifestation of systemic lupus erythematosus and can compromise functional and life prognosis. Early diagnosis and management are crucial.

[Drug induced interstitial lung disease in systemic diseases]. / Pneumopathies interstitielles diffuses médicamenteuses au cours des maladies systémiques.

Immunosuppressants and immunomodulators are designed to regulate excessive immune response responsible for inflammatory lesions and are prescribed more and more in internal medicine. These drugs are known for their efficiency but with a significant toxicity including interstitial lung disease (ILD). Some factors liable to pulmonary toxicity include advanced age, genetic polymorphism and the existence of prior pulmonary disease. Cytotoxicity and hypersensitivity are the main mechanisms of pulmonary toxicity. There is no universal classification of drug induced-lung disease. Theoretically, drugs may be responsible for all histological aspects of ILD. Methotrexate is the most well-known drug as a provider of ILD with a prevalence of 0.3 to 11.6%. Some cases of ILD have also been reported with the new biologics used in systemic diseases. The diagnostic approach to the suspicion of drug ILD is to eliminate non-medicinal causes of pneumonia including infections and tumors before exploring the clinical symptomatology and the results of imaging and bronchoalveolar lavage cell profile. The analysis of the clinical symptomatology check the compatibility of the chronology of clinical and/or radiological pneumonia with the medication suspected. Subsequently, data from the clinical case are compared with those of the literature. Treatment involves stopping the suspected drug. The use of corticosteroids may be required in case of signs of severity or a lingering evolution.

Atypical celiac disease: from recognizing to managing.

The nonclassic clinical presentation of celiac disease (CD) becomes increasingly common in physician's daily practice, which requires an awareness of its many clinical faces with atypical, silent, and latent forms. Besides the common genetic background (HLA DQ2/DQ8) of the disease, other non-HLA genes are now notably reported with a probable association to atypical forms. The availability of high-sensitive and specific serologic tests such as antitissue transglutuminase, antiendomysium, and more recent antideamidated, gliadin peptide antibodies permits to efficiently uncover a large portion of the submerged CD iceberg, including individuals having conditions associated with a high risk of developing CD (type 1 diabetes, autoimmune diseases, Down syndrome, family history of CD, etc.), biologic abnormalities (iron deficiency anemia, abnormal transaminase levels, etc.), and extraintestinal symptoms (short stature, neuropsychiatric disorders, alopecia, dental enamel hypoplasia, recurrent aphtous stomatitis, etc.). Despite the therapeutic alternatives currently in developing, the strict adherence to a GFD remains the only effective and safe therapy for CD.

A migraine as initial presentation of celiac disease.

Celiac disease (CD), also known as gluten-sensitive enteropathy, is a prevalent auto-immune disorder. The silent form of CD seems to be more frequent than expected. CD has been associated with neurologic and psychiatric disorders, notably cerebellar ataxia, peripheral neuropathy, epilepsy, dementia and depression. Migraine is a rare complication of CD. We report a case of CD revealed by a migraine. Apparently no case of celiac disease revealed by migraine has been reported in the literature.

[Blastomycosis in Morocco: imported mycosis]. / La blastomycose au Maroc: une mycose d'importation.

Blastomycosis is a rare case. We report a first Moroccan case. A 41-year-old male presented with a 6-month history of dyspnea, fever and significant chest pain associated with night sweats and weight loss. The physical examination disclosed a firm painful paravertebral mass. The chest radiograph demonstrated a left apical opacity. The thoracic scan showed parenchymal infiltration of the apico-dorsal segment of the left upper lobe with vertebral and costal lytic lesions. Surgical biopsy showed granulomatous inflammation with giant-cell intracytoplasmic inclusions. Fungal studies yielded Blastomyces dermatitidis which responded excellently to ketoconazole. Outcome has been excellent at 3.5 years months follow-up. The clinical and radiographic presentation of blastomycosis is non-specific and can be mistaken for a neoplasm. Delay in diagnosis is common.

[Spontaneous Achilles tendon rupture as early manifestation of systemic lupus erythematosus]. / Rupture spontanée du tendon d'Achille à la phase précoce d'un lupus érythémateux systémique.

Spontaneous tendon rupture is rare in the course of systemic lupus erythematosus (SLE). Its incidence rate remains unknown. The pathogenesis of this manifestation is complex and poorly understood. We report a 39-year-old woman who presented with a spontaneous Achilles tendon rupture as the presenting presentation of SLE, before any corticosteroid therapy. All the patients previously published were receiving corticosteroids and reported in some an associated traumatism. Risk factors are prolonged disease duration, chronic therapy with corticosteroids, deforming arthropathy of the hands, and inactive disease.

[Cranial pachymeningitis and primary Sjögren's syndrome]. / Pachyméningite crânienne et syndrome de Gougerot-Sjögren primitif.

INTRODUCTION: Central neurological manifestations of primary Sjogren's syndrome are very polymorphic, including pachymeningitis, one of the rarest manifestations, which is exceptionally inaugural. CLINICAL CASE: A 50-year-old patient was admitted for an intracranial hypertension syndrome with paralysis of the III and VII cranial nerves. Brain MRI revealed pachymeningitis of the right cerebral hemisphere. History taking revealed the existence of xerostomy and xerophthalmos. The accessory salivary gland biopsy demonstrated Chisholm stage III sialadenitis. Search for anti-SSA antibodies and anti-SSB antibodies was positive. The diagnosis of primary Sjogren's syndrome was retained. The patient improved with corticosteroid therapy and cyclophosphamide. CONCLUSION: This case illustrates the unusual observation of pachymeningitis in primary Sjogren's syndrome in the rare setting as an inaugural manifestation.

[Neurological involvement in Behçet's disease: evaluation of 67 patients]. / Les manifestations neurologiques de la maladie de Behçet : étude de 67 patients.

INTRODUCTION: Neurological manifestations of Behçet disease (BD) are polymorphic and serious. The purpose of this study was to analyze the clinical patterns and outcome of neurological involvement in BD. METHODS: The medical records of patients with neurological manifestations of BD were reviewed retrospectively. All patients fulfilled the International Study Group Criteria for the Diagnosis of BD. Patients with headache and normal findings (neurological examination, cerebrospinal fluid, computed tomography scan, magnetic resonance imaging) were excluded. RESULTS: Sixty-seven patients had clinical evidence of neurological involvement. There were 53 men and 14 women. A male/female sex ratio was 3.78. The average age of onset of neurological involvement was 31.5. The meningoparenchymal (MP) central nervous system involvement was found in 83.58%. The most common findings were pyramidal signs. Eleven patients (16.41%) without parenchymal central nervous system involvement were noted. In this group, there were six cases of intracranial thrombosis, one case of intracranial aneurysm and four cases of idiopathic intracranial hypertension. Other clinical features were reported: extrapyramidal signs and isolated spinal cord involvement. The course of disease was favorable in 70% of cases, and unfavorable in 30%. CONCLUSION: Clinical patterns of neurological involvement in BD are various and particularly serious in the MP group.

Pancreatitis as initial manifestation of systemic lupus erythematosus.

Pancreatitis as an initial manifestation of systemic lupus erythematosus is rare. Two cases are reported of young female patients who presented with fever, abdominal pain, vomiting and elevated levels of pancreatic enzymes. They were diagnosed with acute severe pancreatitis associated with systemic lupus erythematosus. There are a few reports in the literature about this association, but the pathogenesis and treatment are still controversial.

[Takayasu's arteritis and retroperitoneal fibrosis: a case report]. / Maladie de Takayasu et fibrose rétropéritonéale : une nouvelle observation.

The authors report a 38-year-old young Moroccan woman with retroperitoneal fibrosis (RPF) associated with Takayasu's disease. The RPF was diagnosed in the presence of an acute renal failure requiring placement of double J catheters while an abdominal CT scan was suggestive of RPF. The diagnosis of Takayasu's disease was suspected three years later when the patient presented with right upper extremity dysesthesia. Aortic angiography showed evidence of typical inflammatory arteritis involvement with bilateral regular and concentric stenosis of axillary arteries and a left, smoothly narrowed primitive carotid artery, and left renal artery partial occlusion. The patient was treated with prednisone (0.5mg/kg per day) with a marked improvement. The association between RPF and Takayasu's disease is very rare, and only five cases have been reported in the literature. These two diseases share similarities in some of the etiologic factors and anatomic localizations.

[Neurosjögren: an unusual presentation with central nervous system involvement]. / Neurosjögren : une présentation inhabituelle.

INTRODUCTION: Neurological manifestations in Sjögren's syndrome are variable. The peripheral nervous system is generally involved. We report a rare case of an unusual central neurological manifestation. CASE REPORT: A 54-year-old woman was admitted with headache and tetraparesia. The physical examination revealed a tetrapyramidal syndrome and a bilateral parotidomegaly. The patient's general condition was nevertheless quite good. Brain MRI showed an heterogeneous pontine lesion with multiple nodular formations in the periventricular white matter. Blood tests revealed anti-SSA and anti-SSB antibodies. A labial salivary gland biopsy was grade IV in Chisholm scoring system and Schirmer's test was positive. CONCLUSION: A latent Sjögren's syndrome can lead to a wide variety of focal brain MRI abnormalities and should be evoked when the etiology is not clear.