Lafora disease: A case report

Introduction: Lafora disease is a rare and severe form of progressive myoclonus epilepsy. It is an autosomal recessive disease, genetically heterogeneous. Aim: Our aims is to study the clinic-pathological features of this rare entitie We report a case of Lafora disease. Case Report: We report the case of a 16 year old girl, which shows from the age of 14 myoclonus epilepsy. Neurological examination showed cerebellar syndrome and intellectual deterioration. Skin biopsy was needed to guide the diagnosis. The Lafora disease has a constantly fatal prognosis. Histological examination confirms the diagnosis and molecular study may help to establish a genetic counseling. Conclusion: Lafora disease has significant clinical and evolutionary characteristics that should guide the clinician to achieve axillary skin biopsy to find Lafora bodies

Le kyste hydatique du cordon spermatique : une localisation exceptionnelle

L� hydatidose est une anthropozoonose due au developpement chez l�homme de la forme larvaire du taenia Echinococcus granulosis. La plupart des kystes hydatiques se localisent dans le foie et les poumons. Le kyste hydatique du cordon spermatique est extremement rare avec seulement 4 cas rapportes dans la litterature. Les auteurs rapportent dans cet article un nouveau cas d�hydatidose du cordon spermatique. Il s�agissait d�un homme de 40 ans qui consultait pour des douleurs scrotales evoluant depuis huit mois. L�examen clinique a mis en evidence une tumefaction mobile, inguino-scrotale, droite. L�echographie testiculaire a objective une hernie inguinale droite associee a deux kystes epididymaires bilateraux. Le patient a ete opere pour cure de son hernie avec decouverte en per-operatoire d�un kyste du cordon spermatique qui a ete reseque. L�examen anatomopathologique a conclu a une hydatidose du cordon spermatique

A rare cause of a scrotal mass: primary leiomyosarcoma of epididymis

Most masses encountered within the scrotal sac are neoplastic and occur within the testis; however a subset (2–3%) of these tumours is extra-testicular and usually arises from paratesticular tissue. Although uncommon, these tumours have a high incidence of malignancy reaching 30%, mainly represented by sarcomas (90%). Tumours occurring in the paratesticular region may be clinically indistinguishable from testicular tumours, thus resulting in initial misdiagnosis. In addition, the clinical findings are by no means specific to a tumour type and cannot distinguish between a benign and a malignant tumour, which results in difficulty in diagnosis and management. All paratesticular tumours are amenable to adequate surgical resection. Definite diagnosis is determined by histological evaluation

Paratesticular Angiomyofibroblastoma-Like Tumor: Unusual Case of a Solidocystic Form

The angiomyofibroblastoma-like tumor of the male genital tract is a rare benign tumor. A total of 34 cases have been reported in the literature. We herein report an exceptional case of solidocystic form in its paratesticular location, in a 79-year-old man. Clinical examination objectified a right testicular induration. Macroscopic examination of the orchidectomy objectified a paratesticular solidocystic tumor formation. Microscopically, the solid area was composed of vessels with small caliber and turgidity of endothelial cells. These vessels were surrounded by clusters of epithelioid cells, sometimes having the appearance of giant cells. They were associated with spindle cells. The cystic area was uncoated. Immunohistochemically, the fusiform cells expressed Desmin and Smooth Muscle Actin. Endothelial cells and clusters of cells surrounding large vessels expressed CD34. The expression of receptors for estrogen and progesterone was negative. To our knowledge, this is the second solidocystic case of angiomyofibroblastoma-like tumor of male genital tract

Symptomatic macroglossia and tongue myositis in Dermatomyositis

The involvement of the tongue in dermatomyositis is rarely described in the literature. We report the case of a patient having a macroglossia whose etiologic was a dermatomyositis. The diagnosis was established by biopsy of the tongue which showed an interstitial lymphocytic infiltration associated with destruction of muscle fibers and perifascicular atrophy. The treatment was based on corticosteroids. The functional prognosis was dominated by the gene to speech and the swallowing disorders

Acute Renal Failure due to Lymphomatous Infiltration: An Unusual Presentation

Renal lymphoma occurs most often as a part of a multi-systemic disseminated lymphoma or as a recurrence of the tumor. Renal involvement usually occurs late in the course of the disease and is clinically silent. Acute renal failure (ARF) from lymphomatous infiltration has been described but is quite rare. We report a 50-year-old Caucasian woman, who presented with features of ARF. Physical examination showed that her arterial blood pressure was 190/100 mm Hg with no lymphadenopathy or hepatosplenomegaly. Her urine output was about 100 ml/day, and urinanalysis revealed + proteinuria and microscopic hematuria. Biochemical findings revealed severely impaired renal function with a serum creatinine of 693 µmol/L. The patient′s lactate dehydrogenase was elevated at 632 U/L. An abdominal ultrasound showed bilateral, large non-obstructed kidneys and a hypoechoic mass arising in the right lobe of the liver. An ultrasound-guided percutaneous liver biopsy showed typical features of B-cell lymphoblastic lymphoma. The patient expired two days later, even before any specific treatment could be started