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Balint syndrome (chronic visual-spatial disorder) presenting without known cause.

ABSTRACT: Balint's syndrome is a rare disorder characterized by a triad of simultanagnosia, optic apraxia, and ocular apraxia. The syndrome manifests when there is an injury to the posterior parietal and occipital lobes and is often bilateral. Several causes of this syndrome were published in the literature, such as trauma, infarctions, infections, tumors, and pre-eclampsia. It can also be the presenting feature of several neurodegenerative disorders, such as atypical Alzheimer's disease. We report a case of a 62-year-old lady who presented with simultanagnosia, optic apraxia, and ocular ataxia which are the typical signs and symptoms of this syndrome. Neuropsychological evaluation revealed severe affection of the visual-spatial function with intact memory, language, and cognition. Brain imaging confirmed atrophy and decreased perfusion in the posterior parietal and occipital lobes. No underlying cause could be identified to explain the brain parenchymal atrophy. The follow-up neuropsychological assessment and brain imaging did not show any progression confirming the static course of the disease.

SUBMITTER: Ghoneim A

PROVIDER: S-EPMC6148828 | biostudies-other | 2018 Dec

REPOSITORIES: biostudies-other

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Balint syndrome (chronic visual-spatial disorder) presenting without known cause.

Ghoneim Aliaa A Pollard Christopher C Greene John J Jampana Ravi R

Radiology case reports 20180920 6

Balint's syndrome is a rare disorder characterized by a triad of simultanagnosia, optic apraxia, and ocular apraxia. The syndrome manifests when there is an injury to the posterior parietal and occipital lobes and is often bilateral. Several causes of this syndrome were published in the literature, such as trauma, infarctions, infections, tumors, and pre-eclampsia. It can also be the presenting feature of several neurodegenerative disorders, such as atypical Alzheimer's disease. We report a case ...[more]

PMID: 30258515

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Project description:Bald thigh syndrome is a common hair loss disorder in sighthounds. Numerous possible causes, including environmental conditions, trauma, stress, endocrinopathies and genetic components have been proposed, but only endocrinopathies have been ruled out scientifically. The overall goal of our study was to identify the cause of bald thigh syndrome and the pathological changes associated with it. We approached this aim by comparing skin biopsies and hair shafts of affected and control dogs microscopically as well as by applying high-throughput technologies such as genomics, transcriptomics and proteomics. While the histology is rather unspecific in most cases, trichogram analysis and scanning electron microscopy revealed severe structural abnormalities in hair shafts of affected dogs. This finding is supported by the results of the transcriptomic and proteomic profiling where genes and proteins important for differentiation of the inner root sheath and the assembly of a proper hair shaft were downregulated. Transcriptome profiling revealed a downregulation of genes encoding 23 hair shaft keratins and 51 keratin associated proteins, as well as desmosomal cadherins and several actors of the BMP signaling pathway which is important for hair shaft differentiation. The lower expression of keratin 71 and desmocollin 2 on the mRNA level in skin biopsies corresponded with a decreased protein expression in the hair shafts of affected dogs. The genetic analysis revealed a missense variant in the IGFBP5 gene homozygous in all available Greyhounds and other sighthounds. Further research is required to clarify whether the IGFBP5 variant represents a predisposing genetic risk factor. We conclude from our results that structural defects in the hair shafts are the cause for this well-known disease and these defects are associated with a downregulation of genes and proteins essential for hair shaft formation. Our data add important knowledge to further understand the molecular mechanisms of HF morphogenesis and alopecia in dogs.

Dataset Information

Balint syndrome (chronic visual-spatial disorder) presenting without known cause.

Publications

Balint syndrome (chronic visual-spatial disorder) presenting without known cause.

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