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https://www.readbyqxmd.com/read/29143062/-intracranial-cystic-lesions
#1
REVIEW
F Ahlhelm, K Shariat, S Götschi, S Ulmer
CLINICAL PROBLEM: Intracerebral cysts are common findings in imaging of the neurocranium and are not always clinically significant. The pathological spectrum of intracerebral cysts is, however, very broad and in addition to incidental findings includes developmental disorders, malformation tumors, primary and secondary neoplasms and infectious etiologies, such as cerebral abscess formation, cysticercosis or residuals after congenital cytomegalovirus infections. Intracerebral cystic defects may be caused by inflammatory central nervous system (CNS) diseases, such as multiple sclerosis as well as by mitochondriopathies, leukodystrophy, electrolyte disturbances or osmotic demyelination syndrome or brain infarctions, e...
November 15, 2017: Der Radiologe
https://www.readbyqxmd.com/read/29141312/-clinical-manifestation-and-gene-analyses-of-15-patients-with-intellectual-disability-or-developmental-delay-complicated-with-congenital-nystagmus
#2
Z J Gao, Q Jiang, Q Chen, K M Xu, Z Q Liu, X B Chen, X L Chen
Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29122497/further-delineation-of-the-phenotypic-spectrum-of%C3%A2-isca2-defect-a-report-of-ten-new-cases
#3
Majid Alfadhel, Marwan Nashabat, Muhammad Talal Alrifai, Hesham Alshaalan, Fuad Al Mutairi, Saif A Al-Shahrani, Barbara Plecko, Rawan Almass, Maysoon Alsagob, Faten B Almutairi, Ahmed Al-Rumayyan, Waleed Al-Twaijri, Mohammed Al-Owain, Robert W Taylor, Namik Kaya
Iron-Sulfur Cluster (ISC) biogenesis is a vital cellular process required to produce various ISC-containing proteins. These ISC proteins are responsible for essential functions such as glycine cleavage and the formation of lipoic acid, an essential cofactor of respiratory chain complexes. Defects in ISC biogenesis lead to multiple mitochondrial dysfunction syndromes including: ISCA2 with infantile onset leukodystrophy. Recently, a founder mutation, c.229G > A, p.Gly77Ser in ISCA2 was reported to cause Multiple Mitochondrial Dysfunction Syndrome type 4...
October 16, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29055464/autosomal-dominant-leukodystrophy-presenting-as-alzheimer-s-type-dementia
#4
Valeria Sandoval-Rodríguez, Mariana Aurora Cansino-Torres, Michel Sáenz-Farret, Gema Castañeda-Cisneros, Gabriel Moreno, Carlos Zúñiga-Ramírez
Autosomal dominant leukodystrophy is a neurodegenerative disorder caused by either point mutations or duplication of the lamin B1 gene on chromosome 5q23. The typical clinical picture consists of autonomic symptoms as well as cerebellar and pyramidal signs. Here we present the case of a 57-year-old female referred to our clinic due to cognitive decline. Neurological examination was significant for cognitive impairment as well as pyramidal and cerebellar signs. Brain MRI displayed diffuse hyperintense lesions in the subcortical white matter, pontine nuclei, brachium pontis and restiform body...
October 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29047053/mild-zellweger-syndrome-due-to-a-novel-pex6-mutation-correlation-between-clinical-phenotype-and-in-silico-prediction-of-variant-pathogenicity
#5
Małgorzata Rydzanicz, Teresa Joanna Stradomska, Elżbieta Jurkiewicz, Ewa Jamroz, Piotr Gasperowicz, Grażyna Kostrzewa, Rafał Płoski, Anna Tylki-Szymańska
Zellweger syndrome (ZS) is a consequence of a peroxisome biogenesis disorder (PBD) caused by the presence of a pathogenic mutation in one of the 13 genes from the PEX family. ZS is a severe multisystem condition characterized by neonatal appearance of symptoms and a shorter life. Here, we report a case of ZS with a mild phenotype, due to a novel PEX6 gene mutation. The patient presented subtle craniofacial dysmorphic features and slightly slower psychomotor development. At the age of 2 years, he was diagnosed with adrenal insufficiency, hypoacusis, and general deterioration...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29022088/enhancement-of-multiple-cranial-and-spinal-nerves-in-vanishing-white-matter-expanding-the-differential-diagnosis
#6
Thomas Jose Eluvathingal Muttikkal, Denia Ramirez Montealegre, Julie Ann Matsumoto
Abnormal cranial or spinal nerve contrast enhancement on MRI in cases of suspected pediatric leukodystrophy is recognized as an important clue to the diagnosis of either metachromatic leukodystrophy or globoid cell leukodystrophy (Krabbe disease). We report a case of genetically confirmed childhood vanishing white matter with enhancement of multiple cranial and spinal nerves in addition to the more typical intracranial findings. This case expands the limited differential diagnosis of cranial nerve or spinal nerve enhancement in cases of suspected leukodystrophy and may aid in more efficient work-up and earlier diagnosis of vanishing white matter...
October 12, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28989830/combining-magnetic-resonance-spectroscopy-and-magnetic-resonance-imaging-in-diagnosing-focal-brain-lesions-in-children
#7
Farah Naz, Waseem A Mirza, Nauman Hashmani
Introduction We attempted to find the sensitivity and specificity of various pediatric brain masses in the Pakistani population while keeping histopathology or clinical diagnosis as the gold standard.   Methods This was a retrospective study that was conducted from January 2007 to January 2016. We reviewed the records of 204 patients that presented to the radiology department of Aga Khan University Hospital (AKUH). Out of the 204, 135 pediatric patients in the 0-18 age group with focal brain lesions who underwent magnetic resonance spectroscopy (MRS) and a biopsy or clinical diagnosis were included...
August 4, 2017: Curēus
https://www.readbyqxmd.com/read/28919002/x-linked-adrenoleukodystrophy-in-a-chimpanzee-due-to-an-abcd1-mutation-reported-in-multiple-unrelated-humans
#8
Julian Curiel, Steven Jeffrey Steinberg, Sarah Bright, Ann Snowden, Ann B Moser, Florian Eichler, Holly A Dubbs, Joseph G Hacia, John J Ely, Jocelyn Bezner, Alisa Gean, Adeline Vanderver
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder leading to the accumulation of very long chain fatty acids (VLCFA) due to a mutation in the ABCD1 gene. ABCD1 mutations lead to a variety of phenotypes, including cerebral X-ALD and adrenomyeloneuropathy (AMN) in affected males and 80% of carrier females. There is no definite genotype-phenotype correlation with intrafamilial variability. Cerebral X-ALD typically presents in childhood, but can also present in juveniles and adults...
September 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28914269/looking-beyond-the-exome-a-phenotype-first-approach-to-molecular-diagnostic-resolution-in-rare-and-undiagnosed-diseases
#9
Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, Rebecca C Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, Jennifer A Sullivan, Allyn McConkie-Rosell, Sujay Kansagra, Edward C Smith, Mays El-Dairi, Jane Bellet, Martha Ann Keels, Joan Jasien, Peter G Kranz, Richard Noel, Shashi K Nagaraj, Robert K Lark, Daniel S G Wechsler, Daniela Del Gaudio, Marco L Leung, Laura G Hendon, Collette C Parker, Kelly L Jones, David B Goldstein, Vandana Shashi
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software...
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28904573/lissencephaly-pachygyria-masquerading-as-leukodystrophy-on-magnetic-resonance-imaging-brain
#10
Anil Vasudev Israni, Anirban Mandal
No abstract text is available yet for this article.
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28842795/x-linked-hypomyelination-with-spondylometaphyseal-dysplasia-h-smd-associated-with-mutations-in-aifm1
#11
Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J Bent, Karen W Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J Sinke, Deborah Sival, Irene Stolte-Dijkstra, Andrea Superti-Furga, Nicole Ulrick, Ryan J Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A Neubauer, Cas Simons, Adeline Vanderver
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIFM1 mutation. In our study, 12 patients (6 families) with H-SMD were identified and underwent comprehensive assessment accompanied by whole-exome sequencing (WES). Pedigree analysis in all families was consistent with X-linked recessive inheritance...
August 26, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#12
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28799099/metachromatic-leukodystrophy-mld-a-pakistani-family-with-novel-arsa-gene-mutation
#13
Muhammad Aiman Shahzad, Saba Khaliq, Ali Amar, Saqib Mahmood
A deficiency of the enzyme arylsulfatase A (ARSA) causes a progressive neurodegenerative lysosomal storage disease known as metachromatic leukodystrophy (MLD). Diagnosis is based on the onset of neurological symptoms, presence of gait abnormalities, spasticity, decreased muscle stretch reflexes and neuro-radiological evidence of demyelination. The purpose of the present study was to identify any mutation in the candidate ARSA gene in a family of late infantile MLD patients. The diagnosis of suspected MLD patients was confirmed by a MRI report and low ARSA enzymatic activity in leukocytes...
September 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28769756/an-lmnb1-duplication-caused-adult-onset-autosomal-dominant-leukodystrophy-in-chinese-family-clinical-manifestations-neuroradiology-and-genetic-diagnosis
#14
Yi Dai, Yaling Ma, Shengde Li, Santasree Banerjee, Shengran Liang, Qing Liu, Yinchang Yang, Bin Peng, Liying Cui, Liri Jin
Autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) is a very rare neurological disorder featured with late onset, slowly progressive central nervous system demyelination. Duplication or over expression of the lamin B1 (LMNB1) gene causes ADLD. In this study, we undertook a comprehensive clinical evaluation and genetic detection for a Chinese family with ADLD. The proband is a 52-year old man manifested with autonomic abnormalities, pyramidal tract dysfunction. MRI brain scan identified bilateral symmetric white matter (WM) hyper-intensities in periventricular and semi-oval WM, cerebral peduncles and middle cerebellar peduncles...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28764307/infantile-alexander-disease-case-report-and-review-of-literature
#15
Soumyabrata Sarkar, Rupam Sinha, Amitabha Chakraborty, Tanya Khaitan, Biyas Bhowmik
Alexander Disease (AD) is an autosomal dominant leukodystrophy and occurs predominantly in infants and children. It usually results in death within ten years after onset. Among the four subtypes, infantile form comprises the most of affected individuals. It presents in the first two years of life, typically with progressive psychomotor deficiency, loss of developmental milestones, seizures, and pyramidal signs. Clinical and magnetic resonance image findings usually establish diagnosis of AD. Here, we present a case of Infantile AD with characteristic clinical and radiological features...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28718234/paediatrics-brain-imaging-in-epilepsy-common-presenting-symptoms-and-spectrum-of-abnormalities-detected-on-mri
#16
Azmat Ali, Faiza Akram, Ghayyur Khan, Shaukat Hussain
BACKGROUND: Epilepsy, a common neurological disorder can present at any age and has a number of aetiologies with underlying brain disease being the most common aetiology. Brain imaging becomes important and mandatory in the work up for epilepsy in localization and lateralization of the seizure focus. METHODS: This cross-sectional study was conducted in the department of Radiology Ayub Medical Teaching Institution Abbottabad from 1st March 2015 to 31st March 2016...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28667691/subacute-demyelinating-peripheral-neuropathy-as-a-novel-presentation-of-late-infantile-metachromatic-leukodystrophy
#17
Hernan D Gonorazky, Kimberly Amburgey, Grace Yoon, Jiri Vajsar, Elysa Widjaja, James J Dowling
No abstract text is available yet for this article.
July 1, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28638987/leukodystrophies-a-proposed-classification-system-based-on-pathological-changes-and-pathogenetic-mechanisms
#18
REVIEW
Marjo S van der Knaap, Marianna Bugiani
Leukodystrophies are genetically determined disorders characterized by the selective involvement of the central nervous system white matter. Onset may be at any age, from prenatal life to senescence. Many leukodystrophies are degenerative in nature, but some only impair white matter function. The clinical course is mostly progressive, but may also be static or even improving with time. Progressive leukodystrophies are often fatal, and no curative treatment is known. The last decade has witnessed a tremendous increase in the number of defined leukodystrophies also owing to a diagnostic approach combining magnetic resonance imaging pattern recognition and next generation sequencing...
June 21, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28628708/brain-calcifications-in-adult-onset-genetic-leukoencephalopathies-a-review
#19
REVIEW
Xavier Ayrignac, Gaël Nicolas, Clarisse Carra-Dallière, Didier Hannequin, Pierre Labauge
Importance: Adult-onset genetic leukoencephalopathies and leukodystrophies are increasingly recognized as a heterogeneous group of disorders with new diagnostic approaches and potential treatments. In the new era of genomics, the challenging interpretation of individual genetic variations requires an accurate phenotypic description and classification. Clinical and magnetic resonance imaging (MRI)-based approaches have been proposed to improve the diagnostic process of adult-onset leukoencephalopathies...
August 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28592043/-a-report-of-atypical-hypomyelinating-leukodystrophy-with-atrophy-of-the-basal-ganglia-and-cerebellum-caused-by-a-de-novo-mutation-in-tubulin-beta-4a-tubb4a-gene-and-literature-review
#20
REVIEW
Y Du, C Li, J Guo, P Guo, Z Y Li, W Zhang
Objective: To explore the clinical symptoms and neuroimaging features of a patient with atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum (H-ABC) caused by a novel TUBB4A mutation. Methods: We analyzed the clinical data, imaging features and the result of genetic testing of a case diagnosed as atypical H-ABC. Results: The initial symptoms were progressive spasticity, mild cerebellar ataxia and mild cognitive impairment. MRI showed regional blurring of slight high signal on T(2)-weight and FLAIR image in white matter of the bilateral midbrain ventral, internal capsule, posteior horn of lateral ventricle and centrum semiovale, with normal bilateral cerebellar and caudoputamen nucleus...
June 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
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