[Congenital disorders of ocular motility].
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Biomedical subjects
Publications and source records attributed to M Cordonnier.
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Clinical description of a 12-year-old girl with a number of congenital abnormalities including retarded growth and an asymmetric facies. All the clinical features observed are compatible with the CHARGE association. Ocular anomalies are important bilateral colobomata associated with nystagmus and strabismus. Three among four of the lacrymal canaliculi are missing. This anomaly has not yet been described in the CHARGE syndrome. The discussion refers to all the clinical observations especially the ophthalmological features.
Case report of a 39-year-old woman treated by Danazol for a paroxystic nocturnal hemoglobinuria who developed benign intracranial hypertension and sclerosing cholangitis. Bilateral papilloedema cleared 4 weeks after Danazol was stopped. Twelve similar cases have already been reported in the literature. Danazol should be added to the list of drugs potentially inducing pseudo-tumor cerebri.
A case of bilateral Duane's retraction syndrome (DRS) type III associated with Kallmann's syndrome (hypogonadotropic hypogonadism and anosmia) is reported. Both anomalies may result from a disturbance of embryogenesis during the second month of gestation. The authors assimilate bilateral type III DRS to congenital horizontal gaze paralysis.
High myopia may produce a masquerade syndrome, exhibiting clinical findings similar to those found in endocrine ophthalmopathy. Several hypotheses have been proposed as an explanation: sixth nerve paresis, structural changes in oculomotor muscles, contact between elongated globes and the bones of the orbital apices. These hypotheses are discussed after the presentation of a case with electroneuro-oculographic and tomodensitometric findings.
Case report of four members of a family presenting a congenital fibrosis syndrome. The first case has the typical presentation with bilateral ptosis, bilateral hypotrophic, variable horizontal deviation, and restricted ocular movements in all directions. The second case has a unilateral ptosis with Marcus Gunn phenomenon and bilateral restriction of elevation. In the third case, the condition is purely unilateral and associated with a sensorimotor neuropathy. A fourth member presents a unilateral ptosis. Three other members have a simple strabismus without any oculomotor anomaly.
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Two cases presenting the main features of the continuous muscle activity syndrome (neuromyotonia) are reported. The clinical particularities between the two patients are under lined. The second case is special because of its acute and reversible evolution and the possible role of gold salts in its etiology. This latter point suggests Morvan's fibrillary chorea. The possible relationships between the two syndrome are discussed.
The excitability of a lower limb myotatic reflex arc is modulated by the antecedent activation of another myotatic arc in the same limb; the changes can be represented by heteronymous excitability curves. This work compares heteronymous excitability curves in spastic and normal subjects. Eighteen patients who showed clear signs of pyramidal tract lesions at a chronic stage were studied. Three myotatic arcs of the lower limb (soleus, quadriceps, and short biceps) were activated either by mechanical percussion (T Sol-T Quad-TSBi) or by electrical stimulation of the afferent nerve (H Sol-H Quad). They were used as conditioning and test responses in six different combinations, and the results compared to those obtained previously in normal volunteers. In spastic patients, heteronymous excitability curves are more obviously modified than homonymous ones. The changes are most prominent in the thigh muscles and less marked when the soleus reflex is conditioned by activation of quadriceps and biceps femoris myotatic reflex arcs.
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In 30 normal subjects, the influence of the reflex activation of one myotatic reflex arc on the excitability of other myotatic reflex arcs of the lower limb has been investigated using excitability curves. Soleus, quadriceps, and short biceps tendon reflexes as well as H reflex at two different intensities (liminal and H max/2) were used either as conditioning or as conditioned responses. The reflex activation of the soleus muscle has opposite effects on antagonistic muscle groups of the thigh: facilitation of the quadriceps myotatic arc and inhibition of the short biceps myotatic reflex arc. Conversely, activation of both quadriceps and short biceps muscles leads to a marked and long lasting (+/- 5000 ms) inhibition of the soleus myotatic reflex arc. The differences of functional organization between proximal and distal myotatic reflex arcs are emphasized and the role of the afferent impulses secondary to the conditioning muscular contraction is discussed.
The direct monitoring of sugars such as lactose, maltose, saccharose is not only useful at the applied point of view but also at the fundamental point of view for studying enzymology, especially in microbiology and fermentation. Benzyme systems were extensively used in solution for analytical applications in industry and medicine. The progress in the field of immobilization of bienzyme systems [1-3], especially within membranes [4-5], makes possible the production of new analytical devices. From the studies dealing with concentration profiles in artificial enzyme membranes [14], evidence was obtained for a well defined relationship between the local concentration of a metabolite and concentration of the first substrate in the bulk solution. In the described systems a substrate is transformed into glucose within a membrane, the glucose is then transformed in gluconic acid with a local oxygen consumption. The local pO2 level is linked to the glucose oxidase velocity, which is only linked to the glucose production, that is to say to the concentration of the first substrate. The enzyme electrode is based on the transformation of kinetic phenomena (reaction rates) into absolute values (local concentrations) through the diffusion-reaction coupling process. The manufacture of magnetic enzyme electrodes [6] allows convenient use of the active sensors. The pO2 electrode has some adventages, namely the specificity based on the selectivity of the gas permeable membrane and the linear relationship between the oxygen and the output of the electrode. pCO2, pH, ion electrodes give a logarithmic response as a function of the concentration. The grafting of a multienzyme system on a sensor allows a study of sequential systems in a defined context with a measurement of the local concentration of the metabolites. The tool is useful for both kinetics [4] and regulation studies [5].