Expanding gray zones in ERCC2 mutations; a patient with XP phenotype and acute post-infectious leukodystrophy

Mutations in ERCC2, a Nucleotide Excision Repair (NER) gene leads to Xeroderma pigmentosum (XP), Trichothiodystrophy (TTD) and Cockayne Syndrome (CS) phenotypes with various severities. While patients undergo XP disease are primarily suffering from skin hypersensitivity but rarely having central nervous system problems, TTD and CS patients are mostly having neurological disorders. In addition to that severe changes in hair and nail texture are especially unique to TTD. Hereby we report a previously healthy patient developed a rapid neurological decline and severe leukodystrophy due to an acute infection in which kept up with mild UV sensitivity and mild developmental delay. Pathophysiology of infection related neurodegeneration and DNA repair genes are also discussed

Imaging spectrum of breast papillary lesions: With special emphasis on atypical appearances

WOS: 000387420100002Papillary breast tumors are rare breast tumors. Presentation of papillary breast lesions varies clinically and radiologically. Standard diagnostic work-up for papillary breast lesions includes various radiological modalities such as mammography, galactography, ultrasound and MRI. Papillary lesions often have a wide spectrum of appearance on different radiological modalities, so that optimal differentiation of papillary lesions is not easy with various imaging methods. The purpose of this review article is to describe the different imaging appearances of benign and malignant papillary lesions of the breast with special emphasis on atypical appearances

Auditory pathway features determined by DTI in subjects with unilateral acoustic neuroma

WOS: 000389606200007PubMed ID: 25813527In the studies concerning the pathology of the auditory pathway in the vestibulocochlear system, few use advanced neuroimaging applications of magnetic resonance imaging (MRI) such as diffusion tensor imaging (DTI). Those who did use reported DTI changes only at the lateral lemniscus and inferior colliculus level. The aim of our study was to determine diffusion changes in the bilateral auditory pathways of subjects with unilateral acoustic neuroma (AN) and compare them with healthy controls. A total of 15 subjects with unilateral AN along with 11 controls underwent routine MRI and DTI. Apparent diffusion coefficient (ADC) and fractional anisotropy (FA) values obtained from the lateral lemniscus, inferior colliculus, corpus geniculatum mediale, and Heschl's gyrus of the auditory pathway were then compared. The subjects' ADC values measured from the contralateral side were significantly higher at the lateral lemniscus, inferior colliculus, and corpus geniculatum mediale compared with those of the controls. Also, decreased FA values were noted at the inferior colliculus for both the contralateral and ipsilateral sides. The highest ADC values were detected in the inferior colliculus of the auditory pathway. In the auditory pathway of subjects with AN, the contralateral side is more affected than the ipsilateral side, the most affected region being the inferior colliculus. DTI is an advanced neuroimaging technique that can be used to determine the presence of microstructural damage to the auditory pathway in subjects with AN, whereas conventional MRI is not sensitive enough to detect damage

Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy

Background: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recent research has established homozygous KCNMA1 mutations accountable for the phenotype of cerebellar atrophy, developmental delay, and seizures. Case Report: Here, we report the case of a patient with a novel homozygous truncating mutation in KCNMA1 (p.Arg458Ter) presenting with both the loss- and gain-of-function phenotype with paroxysmal dyskinesia, epilepsy, intellectual delay, and corticospinal–cerebellar tract atrophy. Conclusion: This report extends the KNCMA1 mutation phenotype with a patient who carries a novel frameshift variant, presenting with both the gain- and loss-of-function phenotypes along with spinal tract involvement as a novel characteristic

Investigation of Brain Impairment Using Diffusion-Weighted and Diffusion Tensor Magnetic Resonance Imaging in Experienced Healthy Divers

Background: The aim of this study was to understand the changes of decompression illness in healthy divers by comparing diffusion-weighted (DWI) and diffusion tensor MRI findings among healthy professional divers and healthy non-divers with no history of diving. Material/Methods: A total of 26 people were recruited in this prospective study: 11 experienced divers with no history of neuro- logical decompression disease (cohort) and 15 healthy non-divers (control). In all study subjects, we evaluated apparent diffusion coefficient (ADC) and type of diffusion tensor metric fractional anisotropy (FA) values of different brain locations (e.g., frontal and parieto-occipital white matter, hippocampus, globus pallidus, putamen, internal capsule, thalamus, cerebral peduncle, pons, cerebellum, and corpus callosum). Results: ADC values of hippocampus were high in divers but low in the control group; FA values of globus pallidus and putamen were lower in divers compared to the control group. DWI depicted possible changes due to hypoxia in different regions of the brain. Statistically significant differences in ADC values were found in hypoxia, particularly in the hippocampus (p=0.0002), while FA values in the globus pallidus and putamen were statistically significant (p=0.015 and p=0.031, respectively). We detected forgetfulness in 6 divers and deterioration in fine-motor skills in 2 divers (p=0.002 and p=0.17, respectively). All of them were examined using neuro-psychometric tests. Conclusions: Repeated hyperbaric exposure increases the risk of white matter damage in experienced healthy divers without neurological decompression illness. The hippocampus, globus pallidus, and putamen are the brain areas responsible for memory, learning, navigation, and fine-motor skills and are sensitive to repeated hyperbaric exposure