Brain sagging syndrome presenting with chorea.
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ABSTRACT:
SUBMITTER: Mulroy E
PROVIDER: S-EPMC5874458 | biostudies-literature |
REPOSITORIES: biostudies-literature
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| S-EPMC4553025 | biostudies-literature
Project description:BackgroundBehavioral variant frontotemporal dementia (bvFTD) is a relatively well-defined clinical syndrome. It is associated with frontal and temporal lobe structural/metabolic changes and pathologic findings of a neurodegenerative disease. We have been evaluating patients with clinical and imaging features partially consistent with bvFTD but with evidence also suggestive of brain sagging, which we refer to as frontotemporal brain sagging syndrome (FBSS).MethodsRetrospective medical chart review to identify all patients seen at our institution between 1996 and 2010, who had a clinical diagnosis of FTD and imaging evidence of brain sag.ResultsEight patients, 7 male and 1 female, were diagnosed with FBSS. The median age at symptom onset was 53 years. All patients had insidious onset and slow progression of behavioral and cognitive dysfunction accompanied by daytime somnolence and headache. Of the 5 patients with functional imaging, all showed evidence of hypometabolism of the frontotemporal regions. On brain MRI, all patients had evidence of brain sagging with distortion of the brainstem; 3 patients had diffuse pachymeningeal enhancement. CSF opening pressure was varied and CSF protein was mildly elevated. A definite site of CSF leak was not identified by myelogram or cisternography, except in one patient with a site highly suggestive of leak who subsequently underwent surgery confirming a CSF leak. In 2 patients with a neuropathologic examination, there was no evidence of a neurodegenerative disease.ConclusionsThis case series demonstrates that FBSS may mimic typical bvFTD but should be recognized as an unusual presentation that is potentially treatable.
| S-EPMC3087405 | biostudies-literature
Project description:Due to loss of brain buoyancy, spontaneous spinal cerebrospinal fluid (CSF) leaks cause orthostatic headaches but also can cause symptoms indistinguishable from behavioral variant frontotemporal dementia (bvFTD) due to severe brain sagging (including the frontal and temporal lobes), as visualized on brain magnetic resonance imaging. However, the detection of these CSF leaks may require specialized spinal imaging techniques, such as digital subtraction myelography (DSM). We performed DSM in the lateral decubitus position under general anesthesia in 21 consecutive patients with frontotemporal dementia brain sagging syndrome (4 women and 17 men; mean age 56.2 years [range: 31-70 years]). Nine patients (42.8%) were found to have a CSF-venous fistula, a recently discovered type of CSF leak that cannot be detected on conventional spinal imaging. All nine patients underwent uneventful surgical ligation of the fistula. Complete or near-complete and sustained resolution of bvFTD symptoms was obtained by all nine patients, accompanied by reversal of brain sagging, but in only three (25.0%) of the twelve patients in whom no CSF-venous fistula could be detected (P = 0.0011), and who were treated with non-targeted therapies. Concerns about a spinal CSF leak should not be dismissed in patients with frontotemporal brain sagging syndrome, even when conventional spinal imaging is normal. However, even with this specialized imaging the source of the loss of spinal CSF remains elusive in more than half of patients.
| S-EPMC9760785 | biostudies-literature
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| S-EPMC7197300 | biostudies-literature
Project description:PurposeSagging eye syndrome (SES), horizontal and/or vertical strabismus caused by orbital connective tissue degeneration, was first defined 10 years ago. This study investigated SES and other causes of acquired binocular diplopia in adults presenting to a single institution since the description of SES.DesignRetrospective observational case series.MethodsMedical records were reviewed of all new patients over the age of 40 who presented to the Stein Eye Institute with binocular diplopia between January 2015 and December 2018. Clinical causes of diplopia were tabulated in patients grouped by age and sex. In patients with SES, we tabulated binocular alignment, types of treatment, and surgical outcomes.ResultsThere were 945 patients of mean age 66.5 years, of whom 514 (54.4%) were female. The most common cause of diplopia was SES (31.4%). The 297 patients with SES were older at 71.2 years (P < 0.0001) and more predominantly female at 59.9% than other patients (52.0%; P = 0.023). The relative proportion of SES patients among all diplopic patients increased with age from 4.7% under age 50 years to 60.9% over the age of 90. Age-related distance esotropia was present in 35% and cyclovertical strabismus in 65% of cases of SES. Strabismus surgery was performed in 50% of cases of SES. Mean esotropia at distance decreased from 6.9 ± 0.7Δ preoperatively to 0.3 ± 0.3Δ postoperatively. Preoperative hypertropia decreased from 3.0 ± 0.3Δ to 0.7 ± 0.2Δ postoperatively. Surgery resolved diplopia in all cases.ConclusionsIt is important to recognize that SES is a very common cause of adult binocular diplopia.
| S-EPMC6911643 | biostudies-literature
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| S-EPMC7525192 | biostudies-literature
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| S-EPMC3390544 | biostudies-literature
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| S-EPMC6353315 | biostudies-literature
Project description:BackgroundSince its localization to the NKX2-1 gene in 2002, the phenotype of the disorder historically called "benign hereditary chorea" has been expanding beyond chorea.MethodsThe phenomenology of movement disorders and other symptomatology associated with mutations in NKX2-1 were characterized after a detailed evaluation of consecutive patients evaluated in our clinic over the past 3 years.ResultsWe studied 5 patients (3 females), ages 2 to 31 years, with confirmed pathogenic variants in NKX2-1. All patients exhibited chorea, gross motor delay, and gait impairment. Other symptoms included neonatal respiratory failure (n?=?4), cognitive deficits (n?=?3), hypothyroidism (n?=?4), joint laxity (n?=?2), myoclonus (n?=?1), hypotonia (n?=?3), and seizures (n?=?1). Chorea often proved refractory to medical therapies.ConclusionsThe phenotype associated with pathogenic variants in NKX2-1 frequently includes disabling and often medically refractory neurological and non-neurological abnormalities. We therefore suggest that the term benign hereditary chorea be abandoned in favor of its genetic designation as NKX2-1-related disorder.
| S-EPMC6335533 | biostudies-literature
Project description: Not available
| S-EPMC5899893 | biostudies-literature