Static Leukoencephalopathy Associated with 17p13.3 Microdeletion Syndrome: A Case Report

2019 ◽  
Vol 50 (06) ◽  
pp. 387-390 ◽  
Author(s):  
Ayaka Hirasawa-Inoue ◽  
Eri Takeshita ◽  
Yuko Shimizu-Motohashi ◽  
Akihiko Ishiyama ◽  
Takashi Saito ◽  
...  
Keyword(s):  
White Matter ◽  
Chromosomal Abnormalities ◽  
Magnetic Resonance Images ◽  
Cerebral White Matter ◽  
Comparative Genomic ◽  
White Matter Abnormality ◽  
Microdeletion Syndrome ◽  
Chromosomal Imbalance ◽  
Dysmorphic Features ◽  
Serial Brain

Background Leukoencephalopathy associated with dysmorphic features may be attributed to chromosomal abnormalities such as 17p13.3 microdeletion syndrome. Case A 19-year-old female patient was referred to our hospital for diagnostic evaluation of her leukoencephalopathy. She demonstrated moderate intellectual disability, minor dysmorphic features, and short stature. Serial brain magnetic resonance images obtained within a 16-year interval revealed prolonged T2 signals in the deep cerebral white matter with enlarged Virchow–Robin spaces. A nonsymptomatic atlas anomaly was also noted. Using microarray-based comparative genomic hybridization, we identified a 2.2-Mb terminal deletion at 17p13.3, encompassing YWHAE, CRK, and RTN4RL1 but not PAFAH1B1. Conclusion Except for atlas anomaly, the patient's clinical and imaging findings were compatible with the diagnosis of 17p13.3 microdeletion syndrome. The white matter abnormality was static and nonprogressive. The association between the atlas abnormality and this deletion remains elusive. We note the importance of exploring submicroscopic chromosomal imbalance when patients show prominent but static white matter abnormalities with discrepantly mild and stable neurological signs.

Association of Plasma Oligomerized Amyloid-β and Cerebral White Matter Lesions in a Health Screening Population

2021 ◽  
pp. 1-10
Author(s):  
Keun-Hwa Jung ◽  
Kyung-Il Park ◽  
Woo-Jin Lee ◽  
Hyo-Shin Son ◽  
Kon Chu ◽  
...  
Keyword(s):  
White Matter ◽  
Amyloid Β ◽  
White Matter Lesions ◽  
Health Screening ◽  
Magnetic Resonance Images ◽  
Cerebral White Matter ◽  
Clinical Dementia Rating ◽  
Cerebral White Matter Lesions ◽  
Screening Population ◽  
Periventricular Area

Background: Cerebral white matter lesions (WML) are related to a higher risk of vascular and Alzheimer’s dementia. Moreover, oligomerized amyloid-β (OAβ) can be measured from blood for dementia screening. Objective: We aimed to investigate the relationship of plasma OAβ levels with clinical and radiological variables in a health screening population. Methods: WML, other volumetric parameters of magnetic resonance images, cognitive assessment, and plasma OAβ level were evaluated. Results: Ninety-two participants were analyzed. The majority of participants’ clinical dementia rating was 0 or 0.5 (96.7%). White matter hyperintensities (WMH) increased with age, but OAβ levels did not (r2 = 0.19, p <  0.001, r2 = 0.03, p = 0.10, respectively). No volumetric data, including cortical thickness/hippocampal volume, showed any significant correlation with OAβ. Log-WMH volume was positively correlated with OAβ (r = 0.24, p = 0.02), and this association was significant in the periventricular area. White matter signal abnormalities from 3D-T1 images were also correlated with the OAβ in the periventricular area (p = 0.039). Multivariate linear regression showed that log-WMH values were independently associated with OAβ (B = 0.879 (95% confidence interval 0.098 –1.660, p = 0.028)). Higher tertiles of WMH showed higher OAβ levels than lower tertiles showed (p = 0.044). Using a cutoff of 0.78 ng/mL, the high OAβ group had a larger WMH volume, especially in the periventricular area, than the low OAβ group (p = 0.036). Conclusion: Both WML and plasma OAβ levels can be early markers for neurodegeneration in the healthcare population. The lesions, especially in the periventricular area, might be related to amyloid pathogenesis, which strengthens the importance of WML in the predementia stage.

scholarly journals Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review

2019 ◽  
Vol 08 (04) ◽  
pp. 205-211
Author(s):  
Piero Pavone ◽  
Simona Domenica Marino ◽  
Giovanni Corsello ◽  
Martino Ruggieri ◽  
Danilo Castellano Chiodo ◽  
...  
Keyword(s):  
White Matter ◽  
Developmental Delay ◽  
De Novo ◽  
Clinical Manifestations ◽  
Deletion Syndrome ◽  
Cerebral White Matter ◽  
Comparative Genomic ◽  
Facial Dysmorphism ◽  
Perivascular Spaces ◽  
Renal Malformations

AbstractDeletion of the region including chromosome 6p25 has been defined as a syndrome, with more than 68 reported cases. Individuals affected by the syndrome exhibit variable findings, including developmental delay and intellectual disability, cardiac anomalies, dysmorphic features, and—less commonly—skeletal and renal malformations. Ocular and hearing abnormalities are the most notable presenting features. The region encompasses more than 15 genes, of which the FOX group is the most likely causal factor of the clinical manifestations. We report the case of a 2-year-old child with developmental delay, generalized hypotonia, facial dysmorphism, and anomalies involving malformations of the eyes, heart, teeth, and skeleton. The magnetic resonance imaging (MRI) of the child's brain displayed cerebral anomalies involving the white matter, perivascular spaces, and corpus callosum. Array-CGH (comparative genomic hybridization) analysis displayed a de novo partial deletion of the short arm of chromosome 6, extending 5.13 Mb from nt 407.231 to nt 5.541.179. In infancy, neuroradiologic findings of abnormalities in the cerebral white matter and other neurologic anomalies elsewhere in the brain, in association with dysmorphisms and malformations, are highly suggestive of the diagnosis of 6p25 deletion syndrome. When these anomalies are found, the syndrome must be included in the differential diagnosis of disorders affecting the cerebral white matter.

scholarly journals Deletion of 15q26.1 region with absence epilepsy respond to valproic acid: A Literature Overview and A Case Report from Qatar

2021 ◽  
pp. 210
Author(s):  
Keyword(s):  
Developmental Disorders ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
Intractable Epilepsy ◽  
Absence Epilepsy ◽  
Growth Delay ◽  
Comparative Genomic ◽  
Potential Candidate ◽  
Speech Delay ◽  
Dysmorphic Features

Chromosomal abnormalities involving deletions and duplications are known to cause severe developmental disorders, including mental retardation, dysmorphism, and seizures, in children. As the technique of array-based comparative genomic hybridization is being applied more frequently in the diagnostic evaluation of children with developmental disorders; novel pathologic chromosomal abnormalities are being identified in relation to various type of epilepsies in childhood. We report the case of a 4-year-old girl with a history of speech delay and communication disorder, mild dysmorphic features, and absence epilepsy with a de novo microdeletion 15q26.1. A much larger (5 Mb) but overlapping microdeletion has been previously reported in similar several cases with similar phenotype including intractable myoclonic and absence epilepsy, growth delay, and dysmorphic features. This leads us to propose that a potential candidate gene or genes within the deleted region involved in the pathogenesis of some forms of generalized intractable epilepsy, previously considered idiopathic should consider genetic study for childhood epilepsies especially if it was associated with underlying developmental delay in any particular aspect as speech delay in our case.

Extensive cerebral white matter abnormality without clinical symptoms: A new hereditary condition?

1999 ◽  
Vol 45 (6) ◽  
pp. 801-805 ◽  
Author(s):  
T. Autti ◽  
M. Muttilainen ◽  
R. Raininko ◽  
H. Heiskala ◽  
J. Puranen ◽  
...  
Keyword(s):  
White Matter ◽  
Clinical Symptoms ◽  
Cerebral White Matter ◽  
White Matter Abnormality ◽  
Hereditary Condition

6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype–Phenotype Correlation

2021 ◽  
Author(s):  
Manisha Goyal ◽  
Mohammed Faruq ◽  
Ashok Gupta ◽  
Divya Shrivastava ◽  
Uzma Shamim
Keyword(s):  
Array Cgh ◽  
Chromosomal Abnormalities ◽  
Comparative Genomic ◽  
Facial Dysmorphism ◽  
Genetic Syndromes ◽  
Phenotype Correlation ◽  
Microdeletion Syndrome ◽  
Genetic Syndrome ◽  
Severe Hypotonia ◽  
Diagnostic Technologies

AbstractHypotonia is a symptom of diminished tone of skeletal muscle and can be nongenetic or a part of genetic syndrome. Hypotonia, developmental delay, and facial dysmorphism are nonspecific findings observed in many genetic syndromes mostly in chromosomal microdeletion and duplication. Here we report a case with severe hypotonia and facial dysmorphism, diagnosed with deletion at 6q13q14.3 by array comparative genomic hybridization (CGH) at very early age. Recent genetic diagnostic technologies such as array CGH may enable clinicians to diagnose chromosomal abnormalities earlier and provide appropriate medical management

Corpus callosum size may predict late-life depression in women: A 10-year follow-up study

2014 ◽  
Vol 29 (S3) ◽  
pp. 546-547
Author(s):  
F. Cyprien ◽  
P. Courtet ◽  
P. Poulain ◽  
J. Maller ◽  
C. Meslin ◽  
...  
Keyword(s):  
White Matter ◽  
Corpus Callosum ◽  
Elderly Women ◽  
Late Life ◽  
Magnetic Resonance Images ◽  
Community Dwelling ◽  
Cerebral White Matter ◽  
Intracranial Volume ◽  
Late Life Depression

BackgroundRecent research on late-life depression (LLD) pathophysiology suggests the implication of abnormalities in cerebral white matter [1] and particularly in interhemispheric transfer [2]. Corpus callosum (CC) is the main brain interhemispheric commissure [3]. Hence, we investigated the association between baseline CC measures and risk of LDD.MethodsWe studied 467 non-demented individuals without LLD at baseline from a cohort of community-dwelling people aged 80 years or younger (the ESPRIT study). LLD was assessed at year 2, 4, 7 and 10 of the study follow-up. At baseline, T1-weighted magnetic resonance images were manually traced to measure the mid-sagittal areas of the anterior, mid and posterior CC. Multivariate Cox proportional hazards models stratified by sex were used to predict LLD incidence over 10 years.ResultsA significant interaction between gender and CC size was found (P = 0.02). LLD incidence in elderly women, but not in men, was significantly associated with smaller anterior (HR 1.37 [1.05–1.79] P = 0.017), mid (HR 1.43 [1.09–1.86] P = 0.008), posterior (HR1.39 [1.12–1.74] P = 0.002) and total (HR 1.53 [1.16–2.00] P = 0.002) CC areas at baseline in Cox models adjusted for age, education, global cognitive impairment, ischemic pathologies, left-handedness, white matter lesion, intracranial volume and past depression.LimitationsThe main limitation was the retrospective assessment of major depression.ConclusionsSmaller CC size is a predictive factor of incident LLD over 10 years in elderly women. Our finding suggests a possible role of CC and reduced interhemispheric connectivity in LLD pathophysiology. Extensive explorations are needed to clarify the mechanisms leading to CC morphometric changes in mood disorders.

scholarly journals Reversible Cerebral Vasoconstriction Syndrome due to Atovaquone

2017 ◽  
Vol 9 (3) ◽  
pp. 304-308 ◽  
Author(s):  
Takahiro Makino ◽  
Ikuo Kamitsukasa ◽  
Shoichi Ito
Keyword(s):  
Rheumatoid Arthritis ◽  
White Matter ◽  
Cerebral Arteries ◽  
Pneumocystis Pneumonia ◽  
Magnetic Resonance Images ◽  
Japanese Woman ◽  
Reversible Cerebral Vasoconstriction Syndrome ◽  
Cerebral White Matter ◽  
Cerebral Vasoconstriction ◽  
Old Japanese

A 72-year-old Japanese woman with rheumatoid arthritis whose activity decreased with previous treatments had recurrent thunderclap headaches during an atovaquone regimen for the treatment of pneumocystis pneumonia. The recurrent headaches disappeared after discontinuation of the drug. Brain magnetic resonance images showed multiple cerebral vasoconstrictions of cerebral arteries with vasogenic cerebral white matter edema, which diminished several weeks later. We diagnosed the patient’s headaches as reversible cerebral vasoconstriction syndrome due to atovaquone.

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