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.

[Tumoral calcinosis: a case report]. / La calcinose tumorale: à propos d'un cas.

Tumoral calcinosis is a rare benign disease, defined by the presence of calcified deposits in periarticular tissues. The pathogenesis is unclear. We report a new case of tumoral calcinosis in a young girl, involving the left hip and both elbows. The clinical exam found a voluminous mass of soft tissues and the radiological exam showed the presence of voluminous periarticular calcifications with no bone involvement. The diagnosis was confirmed by the anatomopathological exam. The treatment remains essentially surgical and the prognosis is very good.

[Imaging features of CNS tuberculosis]. / Les aspects en imagerie de la tuberculose du système nerveux central.

CNS tuberculosis remains relatively frequent in endemic regions. Both CT and MRI are valuable for diagnosis. Even though non-specific, MRI including diffusion-weighted imaging and proton spectroscopy is more sensitive than CT for detection of some lesions. The purpose of this paper is to illustrate the imaging features of CNS tuberculosis.

[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.

[Thumb acrometastasis revealing lung adenocarcinoma: a case report with review of literature]. / Acrométastase du pouce révélant un adénocarcinome pulmonaire: a propos d'un cas avec revue de la littérature.

Bone metastases in the hand and foot bone (acrometastases) are rarely observed. The authors report a case of a 57-years-old man diagnosed as hand tumour, revealing a bronchic adenocarcinoma. Radiography showed destruction of the phalanx, and histology study confirmed a metastasis of the lung cancer.

[A rare cause of hematuria: rupture of a renal artery aneurysm. A case report]. / Une cause rare d'hématurie: rupture d'anévrisme de l'artère rénale. A propos d'un cas.

The authors report a case of ruptured renal artery aneurysm in a 78 year old patient presenting with macroscopic hematuria. The rare occurrence of this entity and the value of imaging for diagnosis are discussed.