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Brain sagging syndrome presenting with chorea.

ABSTRACT:

SUBMITTER: Mulroy E

PROVIDER: S-EPMC5874458 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Reversible frontotemporal brain sagging syndrome.

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Frontotemporal brain sagging syndrome: an SIH-like presentation mimicking FTD.

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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.

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Project description:Chorea-acanthocytosis (ChAc) is a rare, adult-onset disease usually characterized by, hence the name, a movement disorder and acanthocytosis in the blood. It is caused by mutations of the VPS13A gene with an autosomal recessive transmission. We report a consanguineous Turkish family with a different and informative clinical and diagnostic course. Three siblings developed seizures and the index patient had been diagnosed with bilateral temporal lobe epilepsy. A key finding, however, was the basal ganglia involvement in neuroimaging although no movement disorder was present. [18F]FDG-PET showed a prominent decline in striatal glucose metabolism at 31 years of age and [123I]FP-CIT-SPECT revealed a moderate loss of striatal dopamine transporter availability. The family was referred for genetic testing and exome sequencing detected a homozygous novel truncating mutation c.4326 T>A (p.Tyr1442*) in VPS13A in all affected siblings. With this case, we present autosomal recessive epilepsy as the predominant phenotype of ChAc with a new homozygous VPS13A mutation and provide pathological structural and molecular neuroimaging findings.

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