Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion

2019 ◽  
Vol 51 (01) ◽  
pp. 076-082
Author(s):  
Maha Eid ◽  
Ola Eid ◽  
Ibrahim Hegazy ◽  
Marian Girgis ◽  
Amal Mohamed ◽  
...  
Keyword(s):  
Brain Magnetic Resonance Imaging ◽  
Comparative Genomic ◽  
Heterozygous Deletion ◽  
Resonance Imaging ◽  
Balanced Translocation ◽  
Gene Deletions ◽  
Cavum Septum Pellucidum ◽  
Dysmorphic Features ◽  
Tubulin Genes ◽  
Brain Malformations

AbstractWe report a new patient who presented with dysmorphic features and congenital heart disease. In addition, her brain magnetic resonance imaging revealed leukoencephalopathy, cavum septum pellucidum, perisylvian polymicrogyria, and focal occipital pachygyria. Her regular karyotype showed 46,XX add 6 (p25) due to malsegregation of a maternal balanced translocation 46,XX,t(6;7)(p25;q33) while the array-comparative genomic hybridization identified a 3.307 Mb heterozygous deletion at 6p25.3-p25.2 and 23.95 Mb duplication at 7q33-q36.3. A previous patient with the same developmental brain malformations and leukoencephalopathy with 6p25 deletion including TUBB2A and TUBB2B genes had been reported. Thus, confirming that these specific developmental brain malformations are due to TUBB2A and TUBB2B haploinsufficiency. Our report is the first to present the developmental brain malformations associated with whole gene deletions of the two tubulin genes and provide further insights into the etiology of developmental brain malformations and white matter abnormalities associated with 6p25 deletions.

scholarly journals NF1 microdeletion syndrome: case report of two new patients

2019 ◽  
Vol 45 (1) ◽  
Author(s):  
Gregorio Serra ◽  
Vincenzo Antona ◽  
Giovanni Corsello ◽  
Federico Zara ◽  
Ettore Piro ◽  
...  
Keyword(s):  
De Novo ◽  
Present Report ◽  
Pulmonary Stenosis ◽  
Gene Array ◽  
Brain Magnetic Resonance Imaging ◽  
Comparative Genomic ◽  
Fish Analysis ◽  
Heterozygous Deletion ◽  
Microdeletion Syndrome ◽  
Molecular Features

Abstract Background 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. Case presentation We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen café-au-lait spots and axillary freckling, as well as a Lisch nodule in the left eye, strabismus, high-arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus foot, mild generalized hypotonia, hyperactivity and deficits of speech-related abilities. NF1 genomic rearrangements through multiplex ligation-dependent probe amplification (MLPA) detected an heterozygous deletion of the whole NF1 gene. Array comparative genomic hybridization (a-CGH) analysis defined a 17q11.2 deletion of about 1 Mb (breakpoints at positions 29,124,299 and 30,151,654), which involved different genes (partially CRLF3, ATAD5, TEFM, ADAP2, RNF135, OMG, EVI2B, EVI2A, RAB11FIP4), including NF1. Patient 2 showed growth and developmental delay, supravalvular pulmonary stenosis, twenty-five café-au-lait spots, axillary freckling, craniofacial dysmorphic features, short neck with pterygium, limb abnormalities and foci of neural dysplasia on brain magnetic resonance imaging (MRI). MLPA detected an heterozygous deletion of NF1, which was detailed by a-CGH indicating the positions 29,124,299 and 30,326,958 as its breakpoints, and which included aside from the genes deleted in Patient 1 also COPRS, UTP6 and partially SUZ12. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletions in both cases. Conclusions The present report will likely provide further insights and a better characterization of NF1 microdeletion syndrome.

scholarly journals Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review

2019 ◽  
Vol 08 (04) ◽  
pp. 252-256
Author(s):  
Pratibha Nair ◽  
Lara El-Bazzal ◽  
Hicham Mansour ◽  
Sandra Sabbagh ◽  
Mahmoud Taleb Al-Ali ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Brain Magnetic Resonance Imaging ◽  
Resonance Imaging ◽  
New Family ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Brain Malformations ◽  
Exon 1 ◽  
Clinical Description ◽  
Abnormal Brain

AbstractPathogenic variants in the TRAPPC6B gene were recently found to be associated in three consanguineous families, with microcephaly, epilepsy, and brain malformations. Here, we report on a 3.5-year-old boy, born to consanguineous Lebanese parents, who presented with developmental delay, lactic acidosis, postnatal microcephaly, and abnormal brain magnetic resonance imaging. By whole exome sequencing, a novel homozygous likely pathogenic variant in exon 1 of the TRAPPC6B gene (c.23T > A; [p.Leu8*]) was identified. A review of the clinical description and literature is discussed, pointing out the phenotypic heterogeneity associated with mutations in this gene.

Nonketotic Hyperglycemic Chorea in a 10-Year-Old Asian Boy with Diabetes Mellitus

2020 ◽  
Author(s):  
Julia Marian ◽  
Firdous Rizvi ◽  
Lily Q. Lew
Keyword(s):  
Diabetes Mellitus ◽  
Parietal Lobe ◽  
Rare Complication ◽  
Brain Magnetic Resonance Imaging ◽  
Food Allergies ◽  
Developmental Venous Anomaly ◽  
Venous Anomaly ◽  
Resonance Imaging ◽  
Focal Lesions

AbstractNonketotic hyperglycemic chorea-ballism (NKHCB), also known as diabetic striato-pathy (DS) by some, is a rare complication of diabetes mellitus and uncommon in children. We report a case of a 10 11/12-year-old boy of Asian descent with uncontrolled type 1 diabetes mellitus (T1DM), Hashimoto's thyroiditis, and multiple food allergies presenting with bilateral chorea-ballism. His brain magnetic resonance imaging revealed developmental venous anomaly in right parietal lobe and right cerebellum, no focal lesions or abnormal enhancements. Choreiform movements resolved with correction of hyperglycemia. Children and adolescents with a movement disorder should be evaluated for diabetes mellitus, especially with increasing prevalence and insidious nature of T2DM associated with obesity.

Unusual causes of trigeminal neuralgia treated by gamma knife radiosurgery

2002 ◽  
Vol 97 ◽  
pp. 533-535 ◽  
Author(s):  
Jin Woo Chang ◽  
Jae Young Choi ◽  
Young Sul Yoon ◽  
Yong Gou Park ◽  
Sang Sup Chung
Keyword(s):  
Trigeminal Neuralgia ◽  
Gamma Knife ◽  
Fourth Ventricle ◽  
Gamma Knife Radiosurgery ◽  
Brain Magnetic Resonance Imaging ◽  
Resonance Imaging ◽  
Segmental Demyelination ◽  
Content Type ◽  
Clinical Responses ◽  
Fine Print

✓ The purpose of this paper was to present two cases of secondary trigeminal neuralgia (TN) with an unusual origin and lesion location. In two cases TN was caused by lesions along the course of the trigeminal nerve within the pons and adjacent to the fourth ventricle. Both cases presented with typical TN. Brain magnetic resonance imaging revealed linear or wedge-shaped lesions adjacent to the fourth ventricle, extending anterolaterally and lying along the pathway of the intraaxial trigeminal fibers. The involvement of the nucleus of the spinal trigeminal tract and of the principal sensory trigeminal nucleus with segmental demyelination are suggested as possible causes for trigeminal pain in these cases. It is postulated that these lesions are the result of an old viral neuritis. The patients underwent gamma knife radiosurgery and their clinical responses have been encouraging to date.

scholarly journals Identifying a Common Functional Framework for Apathy Large-Scale Brain Network

2021 ◽  
Vol 11 (7) ◽  
pp. 679
Author(s):  
Vincenzo Alfano ◽  
Mariachiara Longarzo ◽  
Giulia Mele ◽  
Marcello Esposito ◽  
Marco Aiello ◽  
...  
Keyword(s):  
Large Scale ◽  
Brain Magnetic Resonance Imaging ◽  
Brain Network ◽  
Neural Pathways ◽  
Resonance Imaging ◽  
Daily Life Activities ◽  
Functional Differences ◽  
Central Gyrus ◽  
Magnetic Resonance Imaging Mri ◽  
Disease Specific

Apathy is a neuropsychiatric condition characterized by reduced motivation, initiative, and interest in daily life activities, and it is commonly reported in several neurodegenerative disorders. The study aims to investigate large-scale brain networks involved in apathy syndrome in patients with frontotemporal dementia (FTD) and Parkinson’s disease (PD) compared to a group of healthy controls (HC). The study sample includes a total of 60 subjects: 20 apathetic FTD and PD patients, 20 non apathetic FTD and PD patients, and 20 HC matched for age. Two disease-specific apathy-evaluation scales were used to measure the presence of apathy in FTD and PD patients; in the same day, a 3T brain magnetic resonance imaging (MRI) with structural and resting-state functional (fMRI) sequences was acquired. Differences in functional connectivity (FC) were assessed between apathetic and non-apathetic patients with and without primary clinical diagnosis revealed, using a whole-brain, seed-to-seed approach. A significant hypoconnectivity between apathetic patients (both FTD and PD) and HC was detected between left planum polare and both right pre- or post-central gyrus. Finally, to investigate whether such neural alterations were due to the underlying neurodegenerative pathology, we replicated the analysis by considering two independent patients’ samples (i.e., non-apathetic PD and FTD). In these groups, functional differences were no longer detected. These alterations may subtend the involvement of neural pathways implicated in a specific reduction of information/elaboration processing and motor outcome in apathetic patients.

Safety and reliability of the insertable Reveal XT recorder in patients undergoing 3 Tesla brain magnetic resonance imaging

Heart Rhythm ◽  
2011 ◽  
Vol 8 (3) ◽  
pp. 373-376 ◽  
Author(s):  
Karl Georg Haeusler ◽  
Lydia Koch ◽  
Juliane Ueberreiter ◽  
Nalan Coban ◽  
Erdal Safak ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Brain Magnetic Resonance Imaging ◽  
3 Tesla ◽  
Resonance Imaging ◽  
Safety And Reliability
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