[Fraser syndrome. A case report]. / Syndrome de Fraser.

Fraser syndrome is a rare autosomal recessive disorder; the most consistent features are cryptophthalmos, syndactyly of fingers and toes, laryngeal stenosis, and urogenital abnormalities. We report a newborn case at day 1 of life who had multiple abnormalities, born from a consanguineous marriage. Clinically, the newborn had an ankyloblepharon on the left side, a cryptophthalmos on the right side, a syndactyly, anorectal abnormalities with ambiguous genitalia, laryngeal stenosis, and ear malformations. TDM of the cranium and orbits and the transfontanel ultrasound were normal. The abdominal ultrasound showed renal abnormalities. Right eye surgery showed a reduced cornea to an opaque thin plate clinging to the iris without an anterior chamber and a nonindividualized eyeball. The authors discuss the morphological abnormalities, the clinical and paraclinical aspects of this syndrome, its multispecialized clinical management, and the importance of prenatal diagnosis.

[Avulsion of the optic nerve: two case studies]. / L'avulsion du nerf optique. A propos de deux cas.

Avulsion of the optic nerve is a rare and serious injury. The authors report two cases of optic nerve avulsion. The first one concerns a 5-year-old boy who presented ocular trauma after falling on the handlebars of a bicycle. His visual acuity was light perception in the right eye, and his right pupil was unresponsive to light. The anterior segment was normal. The ophthalmoscopic examination showed a total separation of the optic nerve head from the sclera with peripapillary hemorrhage. The second case concerns a 30-year-old man who was hit in the right eye with a stick. On admission, he had no light perception in the right eye, a right afferent pupil defect, a small laceration of the right lower eye lid and no abnormalities on the anterior segment. The fundus examination showed a mild vitreous hemorrhage. Ocular ultrasonography showed vitreous hemorrhage coming directly from the optic nerve head in a mushroom pattern. A CT scan of the orbit revealed a thickened optic nerve. Color Doppler ultrasonography documented slowing of blood flow in the central retinal artery. The two patients received 1 mg/kg/day of prednisone for 2 weeks. No improvement was noted. Optic nerve avulsion is often caused by sudden and forceful rotation of the eye with tearing of the optic nerve as it exits the globe. The nerve can be partially or totally avulsed. The prognosis is usually poor.

[Apert syndrome: a reported observation]. / Syndrome d'Apert: à propos d'une observation.

Apert syndrome is a type of acrocephalosyndactylia that belongs to the group of craniofacial synostoses. It is characterised by craniofacial dysmorphia and syndactyly of hands and feet. It is an uncommon affection that is often transmitted through an autosomal dominant mode, but sporadic cases are frequent. We report the case of a 2 months old baby brought by his parents to the paediatric emergencies for respiratory distress occurring within the framework of a polymalformative syndrome. The examination showed brachycephaly, bilateral exorbitism, syndactyly of the hands and feet and an anal fistula. Echocardiographic examination showed a cardiovascular malformation (interventricular communication), the whole suggestive of Apert syndrome. The child was admitted in intensive care during five days. He died following a respiratory infection. Through this observation the authors illustrate the clinical and evolutionary aspects as well as the therapeutic difficulties of this affection.

[Involvement of the optic nerve in the course of Behcet's disease (presentation of 148 cases)]. / Les atteintes du nerf optique au cours de la maladie de Behçet (a propos de 148 cas).

Behçet's disease is a multisystemic vascularitis of still unknown etiopathogeny. Among 400 cases of Behçet disease, 148 cases presented an optic nerve involvement during a period of eight years (1992-1999). The goal of this work is to contribute to the study of optic nerve involvement in Behçet's disease. The involvement is higher in males (64%) with median age of 27 years. The involvement of the optic nerve is noticed in 37% of cases. It's isolated in 7% of cases and occurs on average after 5 years of evolution of the disease. The diagnosis is based on the clinical examination, visual field, visual evoked potentials, retinal angiography and neuro-imaging (TDM and/or MRI). It can be an acute anterior neuropathy, stasis papilledema complicating a benign intracranial hypertension, neuroretinitis or retrobulbar optic neuropathy. The extraocular systemic manifestations were dominated by oral aphthosis (94%), genital aphthosis (70%), joint manifestations (40%) and central nervous system involvement (32.4%). The prognosis is reserved, 44% of patients having vision lower than 1/10 in spite of treatment. The authors insist on the therapeutic emergency that this involvement represents and the interest to consider it in all patients having an unexplained visual loss.

[Subperiosteal hematoma of the orbit associated with subfrontal extradural hematoma]. / Hématome sub-périosté de l'orbite associé à une lame d'hématome extradural sous-frontal.

Subperosteal hematoma is rarely associated with extradural hematoma and orbital roof fracture. We report a case observed in a 16-year-old boy who developed exophthalmos, diplopia and visual loss after blunt head trauma. Computed tomography demonstrated the subperiosteal hematoma associated with a thin extradural hematoma and an orbital roof fracture. The hematomas were removed during the same procedure via fronto-orbito craniotomy. Surgery led to complete recovery without functional sequelae. We stress the importance of early diagnosis and treatment of post-traumatic exophthalmos.

[Cockayne's syndrome with unusual retinal involvement (report of one family)]. / Syndrome de Cockayne avec atteinte rétinienne inhabituelle (à propos j'une famille).

Cockayne's syndrome is a very rare autosomal recessive affection. Ocular involvement is an essential element for positive diagnosis; the retina shows a typical salt and pepper retinitis with optical atrophy. We report a family with four brothers who had Cockayne's syndrome with unusual retinal involvement. The patients' parents were first cousins. Ophthalmologic examination of the mother showed unilateral left pigmentary retinopathy localized in the peripapillary region. The father's ophthalmological examination was normal. The four brothers presented disharmonious dwarfism, cutaneous hyperpigmentation of skin areas exposed to sun with old-appearance of the skin, sensorineural deafness, kyphoscoliosis, a cerebellar syndrome and mental retardation. The ophthalmological examination showed hypermetropia in all four brothers and bilateral maculopathy with no papillary or vascular abnormalities. The electroretinogram was in favor of cone dystrophy. Computed tomography showed one case of calcifications of the basal ganglia and cerebral atrophy. The karyotypes of the four brothers and the mother were normal. We discuss the ocular symptoms and the etiopathogenesis of this syndrome.

[Role of radiotherapy in cancer of the ethmoid. Retrospective study of a series of 24 cases]. / Place de la radiothérapie dans le cancer de l'ethmoïde. Etude rétrospective d'une série de vingt-quatre cas.

From april 1978 to december 1988, 24 patients were treated were by radiotherapy at the Bergonié Foundation cases were for ethmoidal cancer cases. Twenty two for initial treatment and two refermed for local recurrence. The mean age was 51.4 years and the sex ratio was 5.2 (21 men/4 women). Histologically there were 15 adenocarcinomas, 3 squamous carcinomas, 4 undifferentiated carcinomas and 2 esthesioneuroblastomas. According to the classification of the University of Florida, they were retrospectively classified as stage I = 9 pts, stage II = 5 and stage III = 10. Twenty one patients had postoperative radiotherapy and 3 had exclusive radiotherapy. The average dose was 55.3 Gy. Local control was obtained in 12 pts. Seven patients have recurred locally (within an average period of 12 months) and 5 patients showed progression of disease after treatment. The overall actuarial survival and the disease free survival at 5 years were respectively 50% and 53%. The actuarial survival by stage at 2 years and 5 years was: stage I (88% and 61%), stage II (100% and 50%), stage III (0%). The prognosis of ethmoidal cancer is strictly correlated to local control. For this reason, radiotherapy (with or without surgery) remains important in the treatment of this disease.