associated ONH and retinal hypoplasia. A case of genetically proven muscle-eye-brain disease with ONH and peripheral retinal nonperfusion with secondary fibrovascular proliferation and retinal detachment was recently described. Our patient shares many similar features but had no evidence of a muscular dystrophy, with clinically absent hypotonia and a normal creatine kinase level. Additionally, ...

Les auteurs presentent quatre cas familiaux de l'ictcre chronique, non hemolytique, benin, avec une hyperbilirubinemie a predominance conjuguee. Deux malades ont ete soumis a des investigations plus poussees. Les. voies biliaires etaient visib1es a la cholecystographie ora1e et le taux plasmatique de la BSP, elevc au depart, presentait une pente d'elimination progressive sans remontee secon­dai...

L'auteur expose le premier cas lranien de l'hyper­ostose vertebrale (Syndrome de F orestier-J acquline­Rotes-Querol) chez une femme de 50 ans. A.pres un rappel des principaux traits cliniques ct radiologiques de cette.<l!fifection, il="" insiste="" sur="" jes formes="" assoc1ees="" et="" evoque="" enfin="" que="" le="" meilleur="" ser­vice="" qu'un="" rhumatologue="" ou="" un="" radiologiste=""...

Torsades de pointes is a rare but potentially lethal arrhythmia which mainly occurs in the setting of a prolonged QT interval. ECG is a reliable tool to detect such abnormalities, routinely taken from all patients over 40 who undergo surgery. We describe the case of a 35-year-old woman with torsades de points arrhythmia after hysterectomy surgery. Most likely, our patients had long QT syndro...

Un cas de Syndrome de Rubinst.ein-Taybi  Un enfant age de 13 mois s'adres'se pour des troubles digestifs et respiratoires. Il presenfait un elargissements de Ia phalange -terminale du ponce et du gros orteil, la voute palatine ogi­vale, et -une dysmorphie faciale caracteris­tique: nez aquilin obliquite anti -maJ ourlees et implantee-s basses. Le retard mental nez avcc un retard statural moins ...

Un nourisson de six mois a ete hospitalise dans le .,ervice de pediatrie du C.H.U. de Logmandolhe-Adham pour: deshydratation, etat septique, acidose metabolique, troubles circulatoires des membres avec gangrene de la main droite.  Le syndrome de la coagulation intra-vasculaire disse­minee (CID) a ete rapidernent confirme par l'etude de la erase sanguine. Soumis a un traitement par: solutes 6le...

torsades de pointes is a rare but potentially lethal arrhythmia which mainly occurs in the setting of a prolonged qt interval. ecg is a reliable tool to detect such abnormalities, routinely taken from all patients over 40 who undergo surgery. we describe the case of a 35-year-old woman with torsades de points arrhythmia after hysterectomy surgery. most likely, our patients had long qt syndrome ...

Cornelia de Lange syndrome (CdLS) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error. In classical form of the syndrome there is a recognizable facial appearance at birth although in children with mild disease this may be less obvious at birth but become more noticeable over the first three years of life. In t...

torsades de pointes is a rare but potentially lethal arrhythmia which mainly occurs in the setting of a prolonged qt interval. ecg is a reliable tool to detect such abnormalities, routinely taken from all patients over 40 who undergo surgery. we describe the case of a 35-year-old woman with torsades de points arrhythmia after hysterectomy surgery. most likely, our patients had long qt syndrome ...