Longitudinal Assessment of Neuroradiologic Features in Wolfram Syndrome.
AJNR Am J Neuroradiol
; 41(12): 2364-2369, 2020 12.
Article
em En
| MEDLINE
| ID: mdl-33122205
ABSTRACT
BACKGROUND AND PURPOSE:
Wolfram syndrome is a rare genetic disease with characteristic brain involvement. We reviewed the brain MR images of patients with Wolfram syndrome to determine the frequency and characteristics of common neuroradiologic findings. MATERIALS ANDMETHODS:
We retrospectively reviewed the imaging data of patients with genetically-confirmed Wolfram syndrome who had been recruited to the Washington University Wolfram Syndrome Research Clinic. These patients were evaluated between 2010 and 2019 with annual MRIs, along with other measures. MR images were assessed for clinical neuroradiologic signs at each individual's first and last follow-up visits to characterize the frequency, rate of progression, and clinical correlations of these signs.RESULTS:
We included 30 patients (13 males/17 females; average age at first visit, 14 years; average age at last visit, 19 years). The median duration of follow-up was 5 years (range, 2-9 years). The most common findings were an absent or diminished posterior pituitary bright spot (first, 53%; last, 70%), T1/T2 pons signal abnormalities (first, 53%; last, 67%), optic nerve atrophy (first, 30%; last, 80%), white matter T2 hyperintensities (first, 27%; last, 35%), and cerebellar atrophy (first, 23%; last, 70%).CONCLUSIONS:
Patients with Wolfram syndrome present characteristic neuroradiologic findings that involve the posterior pituitary gland, optic nerves, white matter, brain stem, and cerebellum. These abnormal findings appear at an early age and tend to increase in frequency with time. However, the neurologic significance and neuropathologic mechanisms of each sign require more investigation. Neuroradiologists should be aware of the pattern of these features in Wolfram syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Síndrome de Wolfram
Tipo de estudo:
Observational_studies
Limite:
Adolescent
/
Adult
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Female
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Humans
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Male
Idioma:
En
Revista:
AJNR Am J Neuroradiol
Ano de publicação:
2020
Tipo de documento:
Article