Evolution of the retinal function by flash-ERG in one child suffering from neuronal ceroid lipofuscinosis CLN2 treated with cerliponase alpha: case report

Documenta Ophthalmologica - Neuronal ceroid lipofuscinoses (CLN) are neurodegenerative disorders among the most frequent, inherited as an autosomal recessive trait. Affected patients can present...     

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs,VEPs, EOG over a 17-year period

Documenta Ophthalmologica - LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency is a rare genetic disorder of mitochondrial long-chain fatty acid oxidation inherited as a recessive trait....     

Use of cerebral computer tomography for the diagnosis of multiple sclerosis

The authors describe computer tomography findings in multiple sclerosis (MS)), and attempt an evaluation of the value of cerebral computer tomography for the diagnosis of this disease, especially those forms in which the clinical diagnosis is uncertain. A total of 33 patients, 15 men and 18 women, were studied. According to McAlpine's criteria, 21 patients had established MS, 2 were probably MS cases, and the other 10 were possible cases of the disease. The scanner used was an EMI 1010 apparatus giving 13 mm thick sections, with a matrix of 160 X 160. A contrast medium was injected systematically. Abnormal computer tomography results were noted in 28 of the 33 patients, including one or more low density areas in the white substance in 26 patients, taking up of the contrast medium after injection in 10 patients, and cerebral atrophy in 24 patients. Cases where only one of these anomalies was present are rare, and the various anomalies noted on computer tomography are usually associated in varying proportions. In most cases, the computer tomography findings were not related to any specific clinical picture. In cases of established MS, computer tomography can provide information on the extension and progression of the lesions at the time of examination. Out of the 12 cases in which clinical diagnosis was uncertain, 9 presented abnormal findings (low densities and/or taking up of contrast medium); the level of CSF gamma-globulins was normal in 4 of these 9 patients; visual evoked potentials were not altered in the 5 out of these 9 patients studied. In 3 patients with medullary signs, several low cerebral trunk and white substance of the cerebral hemispheres. When diagnosis is uncertain, cerebral computer tomography is the method of choice for demonstrating latent MS lesions of a certain type: it complements neurophysiological studies (visual, auditory, and somesthesic evoked potentials), used at the present time for the diagnosis of MS by exploration of the optic tracts and cerebral trunk.     

Congenital toxoplasmosis due to maternal reinfection during pregnancy.

A case of congenital toxoplasmic chorioretinitis was diagnosed (specific-immunoglobulin G [IgG] and -IgM comparative Western blot analysis) in a baby whose mother was immune during pregnancy. Maternal sera showed an increase in specific IgG and emergence of both IgM and IgA during pregnancy. The mother was probably reinfected through contact with kittens.