[Carbohydrate-deficient glycoprotein syndrome and progression in electrophysiological results]. / Evolution du bilan électrophysiologique dans le syndrome du déficit de glycosylation des protéines sériques de type Ia (carbohydrate-deficient glycoprotein syndrome ou CDGS).

PURPOSE: To document the progression of clinical and electrophysiological abnormalities in an infant with carbohydrate-deficient glycoprotein syndrome type Ia (CDGS Ia) over a period of 5 years. PATIENT AND METHODS: A 12-month-old male underwent clinical ophthalmic and electrophysiological examination at the age of 1, 2, and 6 years. Neurological examination, magnetic resonance imaging of the brain and a genetic study were also undertaken. RESULTS: Clinical examination revealed hypotonia and ataxia with a convergent squint, nystagmus, myopia with pontocerebellar hypoplasia on the MRI of the brain. The initial electroretinogram showed reduced amplitude of the scotopic and photopic b wave. At 3 years of age, biological and genetic evaluations confirmed the diagnosis of CDGS Ia. At 6 years of age, the electroretinogram was flat with a marked delay in psychomotor development. CONCLUSION: Carbohydrate-deficient glycoprotein syndrome type Ia is a recently described cause of progressive retinal degeneration and an electroretinogram should be taken in patients with psychomotor retardation of unknown etiology. In addition, strabismus associated with electrophysiological signs of anomaly should raise the possibility of CDGS Ia.

[Value of the Bébé-Vision test in the screening of strabismus and anisometropic amblyopia in infants]. / Intérêt du Bébé-Vision dans le dépistage de masse de l'amblyopie strabique et anisométropique du nourrisson.

PURPOSE: To evaluate the accuracy of the Bébé-Vision test for detecting strabismic, ametropic and anisometropic amblyopia in childhood. METHODS: We screened 199 infants under 20 months of age. The screening consisted of a full orthoptic examination by a trained orthopist (cover test, fixation test), a forced choice preferential looking technique (Bébé-Vision test) prior to cycloplegia to test visual acuity, cycloplegic refraction by retinoscopy, and examination of the fundi. RESULTS: Fifteen infants were abnormal on orthoptic examination (clinical evidence of esotropia and/or limitation of abduction and/or amblyopia). The Bébé-Vision test demonstrated a significant interocular difference on the same side of the suspected amblyopic eye in 3 cases and on the opposite side in 3 cases, and no difference in 9 cases. The monocular Bébé-Vision test was abnormal in 51 cases and there was an abnormal cycloplegic refraction in 33 cases. Statistical analysis of these tests demonstrated a very low sensitivity (42%) and a good specificity (90%) for the Bébé-Vision test in detecting amblyopia related to refractive error. CONCLUSION: The Bébé-Vision test does not reliably reveal strabismic or anisometropic amblyopia and is not recommended as a screening test. Diagnosis should continue to be based mainly on the classical clinical methods.

[Cure of oculomotor paralysis with a muscle relaxant (Baclofen)]. / Guérison d'une paralysie oculomotrice par un médicament myorelaxant (Baclofène).

The authors report a case of oculomotor palsy, whose symptoms resolved after administration of a muscle relaxant: Baclofène. This action appeared to be due to suppression of a reactive spasm. It may be a useful treatment for secondary diplopia, after oculomotry palsy.

[Basedow's neuropathy]. / Neuropathie basedowienne.

A case report of grave's neuropathy. The symptoms appeared in a treated patient when there was a biologic hypothyroidy. A total remission was observed after corticotherapy. Nevertheless, a recurrence of disease happened for reduced doses, so an orbital radiotherapy was requisited. Student of differents treatments for dysthyroid neuropathy.

[The central visual field in flicker stimulation]. / Champ visuel central en stimulation Flicker.

The authors reported their results of flicker visual field in ganzfeld and 17 central points with 3, 8, 15 and 35 Hertz flicker. They tested 4 groups of control subjects and 12 patients with glaucoma. The flicker visual field may be a useful aid in determining campimetric abnormalities for glaucoma patients with normal static perimetry.

[Oscillating algorithm in medical diagnosis : alternation of flow-charts and diary programs]. / L'algorithme oscillant du diagnostic médical : alternance d'arbres de décision et de programmes en calendriers.

26 programs of paraclinical tests for inpatients were written in diary form. Conditions of use were clearly defined with emphasis on optimal utilization of the first two or three days of the stay. Nine diaries are presented as examples. In order to reconcile various clinical, logical and economic requirements, the algorithm should oscillate between the flow-chart and the diary. For clinical evaluation, the flow-chart, completed by a health questionnaire, is satisfactory. But, for prescription of the first paraclinical tests, the diary appears more efficient under the specified conditions of use. The next step should then be a flow-chart, and so on. Flow-charts and diaries may be provided separately, each clinician having the possibility of alternating from one to the other, according to findings and local conditions.