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4.
Clin Neuroradiol ; 21(2): 83-5, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21153386

RESUMEN

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.


Asunto(s)
Encéfalo/diagnóstico por imagen , Imagen por Resonancia Magnética , Enfermedad de Sandhoff/diagnóstico , Tálamo/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Consanguinidad , Diagnóstico Diferencial , Dominancia Cerebral/fisiología , Hexosaminidasa A/metabolismo , Hexosaminidasa B/metabolismo , Humanos , Lactante , Masculino , Enfermedad de Sandhoff/genética
6.
Arch Pediatr ; 17(8): 1165-8, 2010 Aug.
Artículo en Francés | MEDLINE | ID: mdl-20579859

RESUMEN

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.


Asunto(s)
Calcinosis/patología , Adolescente , Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/patología , Calcinosis/diagnóstico por imagen , Femenino , Lateralidad Funcional , Humanos , Húmero/diagnóstico por imagen , Radiografía
15.
Ann Otolaryngol Chir Cervicofac ; 124(6): 318-21, 2007 Dec.
Artículo en Francés | MEDLINE | ID: mdl-17673160

RESUMEN

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.


Asunto(s)
Seno Maxilar/diagnóstico por imagen , Seno Maxilar/cirugía , Enfermedades de los Senos Paranasales/diagnóstico por imagen , Quiste Radicular/diagnóstico por imagen , Quiste Radicular/cirugía , Enfermedades Estomatognáticas/diagnóstico por imagen , Enfermedades Estomatognáticas/cirugía , Adulto , Humanos , Masculino , Enfermedades de los Senos Paranasales/cirugía , Tomografía Computarizada por Rayos X
19.
Chir Main ; 25(2): 106-8, 2006 Jun.
Artículo en Francés | MEDLINE | ID: mdl-16841775

RESUMEN

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.


Asunto(s)
Adenocarcinoma/diagnóstico , Neoplasias Óseas/secundario , Neoplasias Pulmonares/diagnóstico , Pulgar/patología , Humanos , Masculino , Persona de Mediana Edad
20.
J Radiol ; 86(7-8): 954-6, 2005.
Artículo en Francés | MEDLINE | ID: mdl-16342882

RESUMEN

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.


Asunto(s)
Aneurisma Roto/complicaciones , Hematuria/etiología , Arteria Renal , Anciano , Aneurisma Roto/diagnóstico , Humanos , Masculino
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