11/8/2022 0 Comments Brain stem stroke![]() ![]() ![]() At the time of her initial presentation, she was diagnosed and reported as having had a stroke with negative findings in native CT, CT angiography and CT perfusion, as well as brain MR imaging (“MRI-negative stroke”). She had presented to an outside facility two years prior with acute onset of symptoms including a fall event. Importantly, genetic mutations known to provoke specific neurodegenerative disorders often accelerate the very same molecular cascades that occur in late-onset types of the same diseases where those mutations cannot be found (with a classical example being Parkinson’s disease).Ī 73-year-old woman presented with a two-year history of progressive memory loss, urinary incontinence and walking difficulties. Most of these disorders have been directly or indirectly linked to specific gene mutations.Įven for long-lasting progressive neurodegenerative diseases, it has been shown that the actual cell death of neurons occurs rapidly over several hours. In various known neurological disorders, the degeneration of brain parenchyma originates from and/or primarily affects the brain stem, such as in olivopontocerebellar atrophy (OPCA), progressive supranuclear palsy (PSP), several spinocerebellar ataxia (SCA) types and various entities of leukodystrophies. Neurodegenerative diseases can selectively target subpopulations of neurons in the CNS, leading to the progressive failure of defin22ed brain systems with consecutive disease-specific clinical features. However, whole-exome sequencing performed from patient’s blood revealed 12 potentially disease-causative heterozygous variants, amongst which several have been associated with neurological disorders in vitro and in vivo – in particular the axon degeneration-related NMNAT2 gene. ConclusionsĪfter an extended differential diagnosis and exclusion of other diseases, a definite diagnosis of the patient’s condition presently remains elusive. ![]() However, a pathognomonic GFAP gene mutation could not be identified by Sanger sequencing. This leukoencephalopathy is caused by GFAP (glial fibrilary acidic protein) gene mutations and may present with brain stem atrophy and stroke-like onset of symptoms in elderly individuals. The combination of patient’s medical history, clinical examination and exceptional pattern of brain stem degeneration presenting as “kissing swan sign” in MR imaging was strongly suggestive of acute onset of Alexander’s disease. Original evaluation had suggested a MRI-negative stroke as underlying pathogenesis. In this manuscript we report on a 73-year-old female who had experienced a sudden onset of complex neurological symptoms that progressively worsened over a period of 2 years. Clinical diagnosis in these patients, however, is often complicated due to a poor understanding of these diseases and their underlying mechanisms. Several neurological disorders have been described in which the degeneration of brain parenchyma originates from and/or primarily affects the brain stem. Acute-onset neurodegenerative diseases in older patients are rare clinical cases, especially when the degeneration only affects specific regions of the nervous system. ![]()
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