Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature.

We report on Gomez-Lopez-Hernandez syndrome (GLHS) in a Caucasian patient, Georgian, 36 months, male, only child born to non-consanguineous parents. There were no similar cases in the family and among close relatives. MRI study confirmed rhombencephalosynapsis (fusion of cerebellar hemispheres in combination with the agenesis of cerebellar vermis) and mild dilation of the lateral ventricles. Other main findings are bilateral parieto-temporal alopecia and brachiturricephaly (broad skull shape and tower-like elongation of the cranium in the vertical axis), low-set posteriorly retracted ears, strabismus (in the right eye), hypotonia (Beighton scale score - 6) and ataxia (trouble maintaining balance). Patient has no signs of trigeminal anesthesia, no recurrent, painless eye infections, corneal opacities and ulcerated wounds on the facial skin and buccal mucosa were observed. Based on the scientific literature we suggest a finding of brachiturricephaly in addition to rhombencephalosynapsis and bilateral alopecia sufficient to put a diagnosis of GLHS. Patient did not speak, disregarded guardians and clinician addressing him, did not make eye contact, was restless and occasionally displayed aggression and self-injurious behavior. These symptoms confirm the earlier diagnosis of Autism Spectrum Disorder (ASD). Therefore, the current study describes a case of co-occurrence of GLHS and ASD.

Eye movements in ephedrone-induced parkinsonism.

Patients with ephedrone parkinsonism (EP) show a complex, rapidly progressive, irreversible, and levodopa non-responsive parkinsonian and dystonic syndrome due to manganese intoxication. Eye movements may help to differentiate parkinsonian syndromes providing insights into which brain networks are affected in the underlying disease, but they have never been systematically studied in EP. Horizontal and vertical eye movements were recorded in 28 EP and compared to 21 Parkinson's disease (PD) patients, and 27 age- and gender-matched healthy subjects using standardized oculomotor tasks with infrared videooculography. EP patients showed slow and hypometric horizontal saccades, an increased occurrence of square wave jerks, long latencies of vertical antisaccades, a high error rate in the horizontal antisaccade task, and made more errors than controls when pro- and antisaccades were mixed. Based on oculomotor performance, a direct differentiation between EP and PD was possible only by the velocity of horizontal saccades. All remaining metrics were similar between both patient groups. EP patients present extensive oculomotor disturbances probably due to manganese-induced damage to the basal ganglia, reflecting their role in oculomotor system.

A distinct variant of mixed dysarthria reflects parkinsonism and dystonia due to ephedrone abuse.

A distinctive alteration of speech has been reported in patients suffering from ephedrone-induced parkinsonism. However, an objective assessment of dysarthria has not been performed in ephedrone users. We studied 28 young Caucasian men from Georgia with a previous history of ephedrone abuse and compared them to 25 age-matched healthy controls. Speech examination, brain MRI, and NNIPPS-Parkinson plus scale were performed in all patients. The accurate differential diagnosis of dysarthria subtypes was based on the quantitative acoustic analyses of 15 speech dimensions. We revealed a distinct variant of mixed dysarthria with a combination of hyperkinetic and hypokinetic components representing the altered motor programming of dystonia and bradykinesia in ephedrone-induced parkinsonism. According to acoustic analyses, all patients presented at least one affected speech dimension, whereas dysarthria was moderate in 43% and severe in 36% of patients. Further findings indicated relationships between motor subscores of dystonia and bradykinesia and speech components of loudness (r = -0.54, p < 0.01), articulation (r = 0.40, p < 0.05), and timing (r = -0.53, p < 0.01). In ephedrone-induced parkinsonism a prominent mixed hyperkinetic-hypokinetic dysarthria occurs that appears related to marked dystonia and bradykinesia and probably reflects manganese induced toxic and neurodegenerative damage to the globus pallidus internus and substantia nigra.