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6.
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
8.
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
9.
Arch Pediatr ; 17(4): 378-82, 2010 Apr.
Article in French | MEDLINE | ID: mdl-20189363

ABSTRACT

Cochleovestibular dysplasia or Mondini malformation is exceptional. Cochlear dysplasia is due to early cessation of the development of the inner ear during embryonic life. We report on the case of an infant who presented with perception deafness and repeated meningitis. CT allowed the diagnosis of Mondini malformation. We underline the importance of high-resolution CT in the diagnosis of Mondini malformation.


Subject(s)
Cochlea/abnormalities , Deafness/congenital , Magnetic Resonance Imaging , Tomography, X-Ray Computed , Vestibule, Labyrinth/abnormalities , Cochlea/pathology , Deafness/diagnosis , Diagnosis, Differential , Female , Humans , Infant , Meningitis/diagnosis , Recurrence , Vestibule, Labyrinth/pathology
16.
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.
J Radiol ; 86(5 Pt 1): 498-501, 2005 May.
Article in French | MEDLINE | ID: mdl-16114208

ABSTRACT

The authors report the case of a 40 year old patient with history of cauda equina syndrome and pyramidal signs due to intramedullary rupture of a congenital dermoid cyst of the conus without associated spinal dysraphism. Diagnosis was suggested at magnetic resonance imaging (MRI) and confirmed by histological examination and percutaneous aspiration of the intramedullary cavity.


Subject(s)
Dermoid Cyst/diagnosis , Spinal Cord Neoplasms/diagnosis , Adult , Biopsy, Fine-Needle , Cyst Fluid/cytology , Dermoid Cyst/congenital , Humans , Lumbar Vertebrae/pathology , Magnetic Resonance Imaging , Male , Polyradiculopathy/etiology , Rupture , Spinal Cord Neoplasms/congenital
20.
J Radiol ; 85(6 Pt 1): 779-81, 2004 Jun.
Article in French | MEDLINE | ID: mdl-15243381

ABSTRACT

The rhabdomyosarcomas are rare tumors of mesenchymal tIssue. Whose most frequent localisations are génito-urinary, and occur in the child and young adult. It's an intrascrotal tumour, localised in the tunica vaginalis, epididymis or spermatic cord. The Authors report a case of paratesticular rhabdomyosarcoma in a 15 Year old child, who presented a right painless scrotal mass since two Months. The research of the tumoral markers is negative. Scrotal ultrasound shows a tissular mass in spermatic cord. Abdominal ultrasound and CT show retroperitoneal lymph node mass. Chest X-ray is normal. The intervention consists of a right castration. The histological examination of the spiceman confirms the diagnosis of the paratesticular rhabdomyosarcoma of the spermatic cord. The patient is treated by chemotherapy without improvement. Through this observation, the Authors underline the interest of the imagery and the aspects of the paratesticular tumours in ultrasound and CT.


Subject(s)
Genital Neoplasms, Male/diagnosis , Rhabdomyosarcoma, Embryonal/diagnosis , Spermatic Cord , Adolescent , Antineoplastic Agents/therapeutic use , Biopsy , Chemotherapy, Adjuvant , Diagnosis, Differential , Fatal Outcome , Genital Neoplasms, Male/surgery , Humans , Lymphatic Metastasis/diagnosis , Male , Orchiectomy , Prognosis , Rhabdomyosarcoma, Embryonal/surgery , Scrotum , Tomography, X-Ray Computed , Ultrasonography
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