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4.
Clin Neuroradiol ; 21(2): 83-5, 2011 Jun.
Article in English | MEDLINE | ID: mdl-21153386

ABSTRACT

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.


Subject(s)
Brain/diagnostic imaging , Magnetic Resonance Imaging , Sandhoff Disease/diagnosis , Thalamus/diagnostic imaging , Tomography, X-Ray Computed , Consanguinity , Diagnosis, Differential , Dominance, Cerebral/physiology , Hexosaminidase A/metabolism , Hexosaminidase B/metabolism , Humans , Infant , Male , Sandhoff Disease/genetics
6.
Arch Pediatr ; 17(8): 1165-8, 2010 Aug.
Article in French | MEDLINE | ID: mdl-20579859

ABSTRACT

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.


Subject(s)
Calcinosis/pathology , Adolescent , Bone Neoplasms/diagnostic imaging , Bone Neoplasms/pathology , Calcinosis/diagnostic imaging , Female , Functional Laterality , Humans , Humerus/diagnostic imaging , Radiography
15.
Ann Otolaryngol Chir Cervicofac ; 124(6): 318-21, 2007 Dec.
Article in French | MEDLINE | ID: mdl-17673160

ABSTRACT

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.


Subject(s)
Maxillary Sinus/diagnostic imaging , Maxillary Sinus/surgery , Paranasal Sinus Diseases/diagnostic imaging , Radicular Cyst/diagnostic imaging , Radicular Cyst/surgery , Stomatognathic Diseases/diagnostic imaging , Stomatognathic Diseases/surgery , Adult , Humans , Male , Paranasal Sinus Diseases/surgery , Tomography, X-Ray Computed
19.
Chir Main ; 25(2): 106-8, 2006 Jun.
Article in French | MEDLINE | ID: mdl-16841775

ABSTRACT

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.


Subject(s)
Adenocarcinoma/diagnosis , Bone Neoplasms/secondary , Lung Neoplasms/diagnosis , Thumb/pathology , Humans , Male , Middle Aged
20.
J Radiol ; 86(7-8): 954-6, 2005.
Article in French | MEDLINE | ID: mdl-16342882

ABSTRACT

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.


Subject(s)
Aneurysm, Ruptured/complications , Hematuria/etiology , Renal Artery , Aged , Aneurysm, Ruptured/diagnosis , Humans , Male
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