Autoimmune thyroid diseases in early childhood three case reports
; HARVENGT, Julie ; et al
Poster (2015, March)Detailed reference viewed: 11 (2 ULg)
La Toxine Botulinique : applications cliniques en ophtalmologie.
MARTIN, Didier ; ANDRIS, Cécile
Conference (2011, October 19)Detailed reference viewed: 20 (1 ULg)
Les paralysies du nerf moteur oculaire commun chez l'enfant: a propos d'une observation de tumeur germinale hypophysaire.
; COLLIGNON, Nathalie ; ANDRIS, Cécile et al
in Bulletin de la Société Belge d'Ophtalmologie (2011), (318), 31-6
PURPOSE: Third cranial nerve palsies are unfrequent in childhood and adolescence and are most often congenital. The association of sellar germ cell tumor and ophthalmoplegia is considered as being very ... [more ▼]
PURPOSE: Third cranial nerve palsies are unfrequent in childhood and adolescence and are most often congenital. The association of sellar germ cell tumor and ophthalmoplegia is considered as being very rare at this age. CASE REPORT: A 11-year-old young girl was examined in emergency with a third left cranial nerve partial palsy associated with one- year duration history of hypopituitarism with insipid diabetes and growth retardation. Cerebral IRM revealed a tumor of the pituitary gland. In histopathological examination of pituitary gland biopsies, lesions were compatibles with a sellar germ cell tumor. CONCLUSION: Although they are most often of a congenital nature, third cranial nerve palsies in childhood may be secondary to other causes that should be always taken in mind. When they are secondary to a sellar tumor and according to the clinical presentation and the IRM, the histopahological examination of biopsies is mandatory to have a precise diagnosis. [less ▲]Detailed reference viewed: 83 (3 ULg)
Absence d'hypogonadisme chez un patient masculin avec prolactinome géant : un paradoxe clinique
; Daly, Adrian ; Deprez, Manuel et al
in Annales d'Endocrinologie (2008), 69(1), 47-52
Background Impotence and decreased libido are the cardinal features of prolactinomas in males. We describe the unusual clinical, pathological and biochemical features in a male patient with a giant ... [more ▼]
Background Impotence and decreased libido are the cardinal features of prolactinomas in males. We describe the unusual clinical, pathological and biochemical features in a male patient with a giant prolactinoma and normal gonadal function. Case Report A 57 year-old man presented with visual symptoms related to a 30 × 25 × 60 mm tumor of the sella and skull base. Biopsy revealed a pituitary adenoma and subsequent hormone profiles demonstrated grossly elevated serum prolactin (131,412 ng/ml), LH at the upper limit of normal and normal testosterone. The patient had no symptoms of decreased libido or impotence related to this giant prolactinoma. Immunohistochemistry revealed a tumor that was positive for prolactin, alpha-subunit and LH. Cabergoline greatly reduced prolactin levels but these remained above normal. LH, testosterone and alpha-subunit levels were decreased in parallel. Loss of libido and impotence became apparent when testosterone fell below normal, a situation that resolved with further cabergoline treatment and prolactin inhibition and testosterone therapy. Conclusions Sexual dysfunction is a hallmark of prolactinomas in males. Tumors that co-secrete prolactin and LH are extremely rare and this is the first such case reported in an adult male. In this case, normal testosterone was maintained by intact LH levels even in the face of the highest prolactin level reported to date. [less ▲]Detailed reference viewed: 110 (7 ULg)
Novel SACS mutation in a Belgian family with sacsin-related ataxia.
; SEGERS, Karin ; BOUQUIAUX, Olivier et al
in Journal of the Neurological Sciences (2008), 264(1-2), 73-6
The authors describe the four patients in the first known Belgian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A novel homozygous missense mutation, NM_014363.3: c.3491T ... [more ▼]
The authors describe the four patients in the first known Belgian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A novel homozygous missense mutation, NM_014363.3: c.3491T>A in exon 9, of the SACS gene was identified in the present family, which results in an original amino acid of methionine to lysine substitution at amino acid residue 1164 (p.M1164K). Although the cardinal clinical features, i.e., spastic ataxia with peripheral neuropathy, in our patients were similar to those in Quebec patients, our patients exhibited some atypical clinical features, e.g., teenage-onset and absence of retinal hypermyelination. The present family is from Wallonia, and there could be shared ethnicity with the families of Charlevoix-Saguenay. [less ▲]Detailed reference viewed: 40 (3 ULg)
Diffuse cortical atrophy in a patient with Turner syndrome and Leber hereditary optic neuropathy
Blaise, Pierre ; Fumal, Arnaud ; Janin, Nicolas et al
in Journal of Neurology (2005), 252(2), 232-233Detailed reference viewed: 32 (1 ULg)