The biallelic variations of the LNPK gene are associated with the "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" phenotype [MIM:618090] in the Online Mendelian Inheritance In Men database, and so far, two families have been identified in the literature. A third family with novel clinical features, who bears a novel variant in LNPK (NM_030650.3: c.770delA, p.D257fs*31) is described in the present study. The coexistence of psychomotor regression and neurodegeneration in brain magnetic resonance imaging was found for the first time in the present study, thanks to the long-term follow-up data on the case, which contributed to the phenotypic and mutation spectrum by means of the novel variation.

Purpose: To obtain information on characteristics, management, current objective nutritional status and perception of nutritional status of children with cerebral palsy (CP) from healthcare professionals (HCPs) and caregivers. Materials and methods: A detailed survey of several items on eight main topics (general characteristics, motor function, comorbidities, therapies, anthropometry, feeding mode and problems and perceived ARTICLE HISTORY

Objective To evaluate retinal nerve fiber layer (RNFL) thickness, central macular thickness (CMT), and subfoveal choroid thickness (CT) by using optical coherence tomography (OCT) in adolescents with newly diagnosed epilepsy and patients who had been using Na valproate (VPA) for at least 1 year. Methods We examined 60 patients with genetic generalized epilepsy (GGE) aged 8–17 years. Thirty patients with newly diagnosed GGE who were evaluated before the beginning of the therapy and another 30 patients who were chosen from among adolescents with epilepsy using VPA for at least 1 year were included in the study. Results Nasal quadrant RNFL thickness and CMT measurements were significantly lower in the monotherapy group compared with the newly diagnosed group ( p = 0.044 and p = 0.032, respectively). CT measurements were not significantly different between the groups ( p = 0.413). There was a negative correlation in regression analysis between the duration of drug use and RNFL thickness in all quadrants. Conclusion According to our study, we observed thinning of the nasal RNFL and macular thickness in adolescents with epilepsy who were using Na valproate for at least 1 year and that as the duration of use increased, the thinning occurred in all RNFL quadrants. Further studies with larger series are needed to better understand the effects of both epilepsy and VPA on the eye.

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Purpose: To evaluate the spectral-domain optical coherence tomography (SD-OCT) findings and pattern visual evoked potential (VEP) in Charcot-Marie-Tooth (CMT) disease.Methods: Seventeen patients with CMT disease and 17 control subjects were included in the study. The patients were divided into two groups according to conduction velocity and inheritance pattern as demyelinating type (CMT 1) and axonal type (CMT 2). The average retinal nerve fiber layer (RNFL) thickness, RNFL thicknesses of all quadrants, and thicknesses of the ganglion cell layer complex (GCC) were measured using SD-OCT. Pattern VEP recordings were evaluated in both groups.Results: The average and four quadrants of RNFL thicknesses, and superior and inferior GCC thicknesses were significantly thinner in the CMT patients compared with healthy individuals, but there were no statistically significant differences between the CMT groups. There was a significant positive correlation between age and all RNFL and GCC thicknesses in the CMT 2 group and between age and RNFL thickness of the temporal quadrant in the CMT 1 group. P100 latencies were significantly delayed in the CMT groups compared with controls and there were no significant differences in P100 latencies between the CMT groups (p<0.001). VEP amplitudes were in normal ranges in the CMT groups.Conclusion: This study showed that RNFL and GCC thicknesses were significantly reduced and VEP latencies were prolonged in patients with CMT with normal clinical examinations. Our results suggest that optic nerves may be affected more frequently in patients with CMT than is detected in clinical examinations.