The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.

Costeff syndrome is a rare genetic neuro-ophthalmological syndrome consisting of early-onset bilateral optic atrophy along with a progressive complex motor disorder with elevated levels of urinary 3-methylglutaconic acid and 3-methylglutaric acid. While borderline to mild cognitive deficits have been considered to be common in patients with this syndrome, a comprehensive cognitive assessment has never been performed. The aim of the current study was to explore the cognitive profile associated with Costeff syndrome. Sixteen adult patients diagnosed with Costeff syndrome were administered a neuropsychological test battery that was composed of standardized verbal tests adapted for the blind. General intelligence ranged from average to borderline, with a group mean consistent with intact general cognitive functioning (VIQmean = 85, z = -1) in the low-average range of the general population. The auditory immediate and delayed memory indexes were in the average range and were significantly higher than the general cognitive functioning, whereas the working memory index was significantly lower than the general cognitive functioning. Adult patients with Costeff syndrome have intact global cognition and learning abilities and strong auditory memory performance. © 2015 Wiley Periodicals, Inc.

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder characterized by deafness and dystonia. However the phenotypic expression of dystonia has not been systematically defined. We report clinical, neurophysiological, and ophthalmological data on 6 subjects from 3 Australian kindreds, including 2 with novel mutations, together with a systematic review of the literature, in order to define the phenotypic expression of dystonia. Profound hearing impairment in affected males develops by infancy and precedes the development of dystonia, which varies in time of onset from the first to the sixth decades, with a peak in the second and third decades. Dystonia in MTS tends to be focal, segmental, or multifocal in distribution at onset, with a predilection for the upper body, variably involving the head, neck, and upper limbs. The majority of patients have progression or generalization of their dystonia regardless of age of onset. Within our 3 kindreds, we observed relative intrafamilial homogeneity but interfamilial variation. The median time to the development of moderate-severely disabling dystonia in these subjects was 11 years. Associated features included progressive cognitive decline, pyramidal signs, and in 1 patient, gait freezing and postural instability. Optic atrophy and cortical visual impairment were both observed. We report for the first time a female patient who developed multiple disabling neurological complications of MTS. Our findings more clearly define and expand the phenotype of both the dystonia and other neurological features of MTS and have implications for the diagnosis and management of this condition.

Intracranial calcifications, epilepsy, and optic atrophy associated with metaphyseal dysplasia: a case report.

A 15-year-old boy presenting with epilepsy, optic atrophy and intracranial calcifications was diagnosed as having metaphyseal dysplasia by bone X-ray examinations. The patient had no laboratory data suggesting other metabolic or endocrinologic disorders. In addition, CT scans showed unique intracranial calcifications of the corpus callosum and periventricular and subcortical white matter, which were distinct from those of previously reported disorders. This case may represent a unique subset or a new type of metaphyseal dysplasia associated with intracranial calcifications and central nervous system symptoms.

An unusual presentation of multiple sclerosis.

Two male patients who presented with unusual pictures of dementia in the absence of other obvious symptoms or signs are reported. Investigations demonstrated changes highly suggestive of multiple sclerosis (MS) on magnetic resonance imaging, cerebrospinal fluid analysis and electrophysiological tests. We suggest this represents a rare presentation of multiple sclerosis.

[The psychophysiological basis of the compensatory development of visual perception in vision disorders]. / Psikhofiziologicheskoe obosnovanie kompensatornogo razvitiia zritel'nogo vospriiatiia pri narusheniiakh zreniia.

At comparison of the data obtained in psychophysical and electrophysiological studies, disturbances were revealed of neurophysiological mechanisms of visual perception in children with the diseases of retinocortical tract. For compensation of the disturbances and development of perception a method is suggested of specific activation of neuronal formations based on their fundamental property--plasticity. The method consists in using rhythmical repeated stimulation of eyes with images which widely vary by the brightness, contrast, colour, form, orientation and spatial position in the visual field. Experimental verification of the method was conducted by a special program of correction studies with children having weak and residual sight. After 2-3 years of studies a significant increase was observed of probability of correct recognition of images by one parameter or combination of two parameters, increase of perception volume and improvement of its other properties. It is supposed that activation of sensory information processes lowers the level of deprivation and mobilizes reserve mechanisms of compensation in the projection and associative areas of the cerebral cortex.