A case report of Sandhoff disease.

Sandhoff disease is a rare and severe lysosomal storage disorder representing 7% of GM2 gangliosidoses. Bilateral thalamic involvement has been suggested as a diagnostic marker of Sandhoff disease. A case of an 18-month-old infant admitted for psychomotor regression and drug resistant myoclonic epilepsy is presented. Cerebral CT scan showed bilateral and symmetrical thalamic hyperdensity. MRI revealed that the thalamus was hyperintense on T(1)-weighted images and hypointense on T2-weighted images with a hypersignal T2 of the white matter. Enzymatic assays objectified a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.

[Dental-radical cysts, a rare aetiology of maxillary sinus opacity]. / Kystes radiculodentaires, une cause rare de sinus maxillaire opaque.

OBJECTIVE: To specify CT scan roll in diagnosis of radicullar cyst invading maxillary sinus. METHODS: Two cases of 23 and 34-year-old men presented with facial injury and sinusitis was explored by CT scan. RESULTS: CT scan showed in both patients a cystic lesion, developing into the maxillary sinus around a tooth apex and limits by a double dense thin rim. CONCLUSION: CT scan permits diagnosis of radicular cyst invading maxillary sinus, in the event of obscured maxillary sinus, when double dense thin rim corresponding to the repulsed wall of the sinus is looking.

[Severe primary hyperparathyroidism and vitamin D deficiency]. / Hyperparathyroïdie primitive sévère et déficit en vitamine D.

Primary hyperparathyrodism is a common disease, often asymptomatic. A young post-partum woman was hospitalized for functional impotence of the upper right limb and poor health status. Laboratory tests revealed severe primary hyperparathyroidism (osteitis fibrosa cystica and nephrolithiasis) associated with vitamin D deficiency. Technetium 99m and thallium parathyroid scintigraphy showed increased uptake under the left thyroid lobe. After surgical resection of a parathyroid adenoma, serum calcium fell markedly and parathyroid levels declined but remained above normal. Calcium and 25(OH)-vitamin D supplementation led to normal calcium and vitamin D levels in three Months, with marked improvement in the bone lesions visualized on the six-Month x-rays. Based on this observation, we describe the many radiological aspects of bone involvement in long-standing hyperparathyroidism aggravated by vitamin D deficiency. Early diagnosis of hyperparathyroidism is crucial.

[Hemangioma of the humerus: value of imaging]. / Hémangiome de l'humérus: apport de l'imagerie.

Hemangioma is an uncommon bone neoplasm that usually affects the craniofacial bones and spine, accounting for less than 1% of all primary bone tumors. The authors report a case of isolated hemangioma involving the proximal humerus in a 22-year-old man. Radiographically, the lesion was a well-defined osteolytic process with marginal sclerosis. The CT images demonstrated an osteolytic lesion with coarse trabecular pattern and partial cortical breakthrough. Magnetic resonance imaging showed a multilocular and hemorrhagic lesion with fluid-fluid level, that was suggestive of aneurysmal bone cyst.

[A new case of abdominal pregnancy]. / Un nouveau cas de grossesse abdominale.

The authors report a case of abdominal pregnancy that reached term. This type of pregnancy is now rare except in developing countries due to lack of early diagnosis. Ultrasonography is useful to confirm a clinically suspected diagnosis. MRI is helpful to further characterize the relation between placental tissue and intra-abdominal organs. Prognosis for the fetus is usually poor, and risks to the mother are non-negligible. Management is typically surgical and placental resection is the main concern. In this case, surgical delivery of an otherwise normal appearing infant was performed.

[Hemospermia: diagnosis and therapeutic aspects. Seven case reports]. / Les hémospermies: orientation diagnostique et thérapeutique. A propos de sept cas.

Hemospermia or hematospermia is a common benign condition, but its prevalence remains unknown and can result from several causes. The aetiology is idiopathic in about 30-70% of the cases. The hemospermia is first of inflammatory origin, in the young patients, where it is due to uretroprostatitis or orchi-epididymitis, but in the older, it is due to a benign of malignant prostatic tumors. Transrectal ultrasonography and magnetic resonance imaging can afforded the opportunity to best investigate the patients with hemospermia. Hemospermia is not an uncommon problem and in most instances has little clinical significance other than evoking much anxiety for the patient. In view of the literature, the authors discus the diagnostic and therapeutic approach of hemospermia through a series of seven cases.

[Spontaneous subcapsular hematoma of the kidney. Report of 6 cases]. / Hématomes spontanés sous-capsulaires du rein. A propos de 6 cas.

Spontaneous subcapsular haematoma (SCH) of the kidney is a rare condition, secondary to kidney tumors in more than 50% of cases. Diagnosis is suggested by sonography and confirmed by CT-scan. Renal angiography, performed in haemodynamically stable patients, shows the origin of bleeding and allows embolization. The authors report 6 cases of SCH of the kidney, one of which occurred after extra-corporeal shock-wave lithotripsy.

[Right ovarian vein syndrome: report of a case and review of the literature]. / Syndrome de la veine ovarienne droite à propos d'une observation et revue de la littérature.

Ovarian vein syndrome corresponds to ureteral compression by a dilated ovarian vein. The pathogeny of this syndrome is discussed. It seems to be multifactorial, comprising an anatomical and hormonal factors. Ovarian vein syndrome is classically described on the right side. Patients present with lumbar pain or renal colic. Diagnosis is mainly urographic. The surgery constitutes radical treatment of the entity. However, this disorder can be successfully treated laparoscopically. Transcatheter embolisation provides excellent result which may replace or complement the traditional surgical approaches of this disease. On the basis of one case and other recent series, the authors review its different aspects, including some considerations on this rarely reorganized and poorly understood disease.

[Primary Ewing's sarcoma of the cranial vault. Report of 2 cases]. / Sarcome d'Ewing primitif de la voûte du crâne. A propos de deux cas.

Primary Ewing sarcoma of the calvarial skull is very rare, found in less than 1% of the cases. Frontal and parietal convexities are the common sites of occurrence. We report two cases of primary Ewing sarcoma of the skull (in 13- and 14-year-old boys. The first tumor involved the right temporal region and exhibited unclear osteolytic appearance on skull x-rays while computed tomography showed an extraaxial enhanced mass and bone sclerosis with spiculated periosteal reaction. In the second case, the tumor was temporoparietal. Plain films demonstrated a large osteolysis and computed tomography revealed extensive bone destruction involving both the inner and outer tables. In both cases, the C scan revealed extraaxial enhanced masses with intracranial and extracranial extension. Radial resection was performed. Adjuvant chemotherapy was given and no recurrence or metastasis has occurred two years later.