کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3053998 1580034 2012 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Transcranial ultrasound in neurodegeneration with brain iron accumulation (NBIA)
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Transcranial ultrasound in neurodegeneration with brain iron accumulation (NBIA)
چکیده انگلیسی

NBIA/HSS is a neurodegenerative disorder associated with iron accumulation in specific brain regions. To date, the diagnosis is obtained by typical MRI changes followed by genetic mutation analysis. This procedure is laborious and limited to a few specially equipped medical centres. Since transcranial sonography (TCS) is widely used for the early diagnosis of PD in adults displaying parenchymal metal deposits, it is likely to be a reliable diagnostic tool for the early diagnosis of NBIA.In 7 patients with proven NBIA and 13 age-matched controls without record of neurological disease TCS was performed by an experienced ultrasound examiner. Data were analysed by two blinded investigators regarding hyperechogenicity and size of the substantia nigra (SN). SN size and hyperechogenicity was significantly increased in patients with NBIA compared to controls (students t-test: p < 0.001).TCS appears to be a non-invasive and inexpensive screening technique in patients with suspected NBIA. Performed by an experienced physician, it could enable an earlier diagnosis and pre-selection of patients for the MRI scan and genetic testing, which are still the diagnostic gold standard.


► In this study we investigated transcranial ultrasound as a screening method for early and differential diagnosis in NBIA.
► TCS fingdings between NBIA patients and healthy control volunteers were compared.
► substantia nigra echogenicity was markedly increased in NBIA patients.
► In our opinion TCS may serve as an early screening method for suspected NBIA patients prior to MRI and genetic testing.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Paediatric Neurology - Volume 16, Issue 2, March 2012, Pages 175–178
نویسندگان
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