[Neuroacanthocytosis: a diagnosis that should be considered]. / Neuroacantheocytoses: un diagnostic à ne pas méconnaître.

BACKGROUND: Neuroacanthocythosis regroup heterogeneous neurodegenerative diseases. These conditions share neurological, hematological and even systemic features. In spite of the genetic progress, their pathogenesis is still unknown. AIM: To report a new case of neuroacanthocythosis CASE REPORT: A 37-year-old woman was admitted for orofacial choreatic movement disorder. These movements were associated to dysarthria, lip and tongue mutilation, areflexia and raised plasma creatine kinase level. Examination of blood smear reveled 10% of acanthocytosis. Neuro-acanthocytosis diagnosis, precisely choreaacanthocytosis, was done. CONCLUSION: Neuro-acanthocytosis should be considered in any movement disorder in order to attempt a genetic counseling.

[Renal involvement in Fabry disease]. / Atteinte renale au cours de la maladie de Fabry.

BACKGROUND: Fabry disease is an X-linked recessive lysosomial storage disorder that is caused by deficient activity of alpha galactosidase A. Renal involvement occurs generally in hemizygous forms. AIM: We report one case of renal involvement in Fabry disease. CASE REPORT: A 47 year-old-man had focal and segmental glomerulosclerosis with moderate renal failure. As the patient presented history of acroparesthesias, hearing loss, left ventricular hypertrophy with arrhythmia and corneal deposits, hemizygous Fabry disease was suspected. This diagnosis was confirmed with low alpha galactosidase activity. After a follow up of 5 years, the renal function remains stable but the patient died by cardiac arrhythmia. CONCLUSION: Occurrence of a glomerulonephritis associated with an hypertrophic cardiopathy without hypertension should advocate Fabry disease.

[Acute pancreatitis associated with hemophagocytic syndrome in systemic lupus erythematous: a case report]. / Pancréatite aiguë et syndrome hémophagocytaire au cours d'une poussée lupique: a propos d'une observation.

Exceptionally, acute pancreatitis and reactive hemophagocytic syndrome (RHS) are observed in the course of systemic lupus erythematosus (SLE). However, the association of the two conditions has never been reported before. A 31-years-old woman with a 7-year history of SLE was admitted for abdominal pain and fever. Elevated serum amylase and pancreatic enlargement on computerized tomography confirmed the diagnosis of pancreatitis. Laboratory examinations revealed pancytopenia, abnormal hepatic tests, and elevation of serum LDH and triglyceride levels. Bone marrow aspiration showed hemophagocytosis. The patient responded well to high dose corticosteroids. About eighty cases of pancreatitis have been reported in patients with SLE. The mechanisms are still unclear: SLE as the primary etiologic factor, drug toxicity, especially steroids which play a controversial role, or infection. About 40 cases of RHS have been reported in patients with SLE, sometimes associated with active infection. Overall mortality is 38.5%. When RHS occurs as an initial manifestation of SLE, or in the course of active SLE, it responds well to immunosuppressive therapy.

[Bilateral primary non-Hodgkin's lymphomas of the adrenals]. / Lymphome malin non-hodgkinien primitif bilatéral des surrénales.

Bilateral primary non-Hodgkin's lymphomas of the adrenals are rare: only 32 cases have been reported to date in the literature. We report a new case and recall the contribution of radiography to diagnosis.

[Wolfram syndrome. A new case report]. / Le syndrome de Wolfram. A propos d'une nouvelle observation.

The WOLFRAM syndrome (SW) is a rare hereditary disorder described for the first time in 1938 as the coexistence of a diabetes mellitus and an optic atrophy to which join frequently a diabetes insipidus and a bilateral deafness. Several genetic studies are current to determine transmission mechanisms, physiopathology of the disorder to update a curative therapy. On the occasion of a new case report we remind the main characteristics of this syndrome. The SW is a rare neurodegenerative disorder characterized by the coexistence of diabetes mellitus, diabetes insipidus, optic atrophy and deafness. Several other manifestations are frequently associated: neurological, urologic and endocrinous abnormalities as well as growth troubles. Only diabetes mellitus and optic atrophy are compulsory for the diagnosis. This Syndrome is transmitted to the autosomic recessive mode. Mitochondrial heredity is in the course of study. The systematic practice of a cerebral IRM during a SW allows finding several malformative abnormalities of which the most typical is the agenesis of the post-pituitary gland. The prognosis of the affection is essentially conditioned by the evoluting complications of the uropathy and the diabetes mellitus. The treatment is symptomatic. Genetic therapy is in.