منابع مشابه
Brain calcifications and PCDH12 variants
OBJECTIVE To assess the potential connection between PCDH12 and brain calcifications in a patient carrying a homozygous nonsense variant in PCDH12 and in adult patients with brain calcifications. METHODS We performed a CT scan in 1 child with a homozygous PCDH12 nonsense variant. We screened DNA samples from 53 patients with primary familial brain calcification (PFBC) and 26 patients with bra...
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A 51-year-old Japanese woman without any particular medical and family history presented with the sudden onset of intermittent numbness of the right hand fifth finger. Computed tomography of the head revealed extensive calcification in the bilateral globi pallidi, dentate nuclei, and subcortical white matter (Picture 1-3). However, she did not have any neurological manifestations, such as movem...
متن کاملAdult-onset leukoencephalopathy, brain calcifications and cysts: a case report
INTRODUCTION Leukoencephalopathy, brain calcifications and cysts, known as Labrune syndrome, is a rare syndrome. The etiology is unknown; in some cases it is difficult to differentiate from Coats plus syndrome and diagnosed as cerebroretinal microangiopathy with calcifications and cysts. We present the case of a patient with adult leukoencephalopathy, brain calcifications and cysts and discuss ...
متن کاملThe relationship between pulp calcifications and salivary gland calcifications
AIM Pulp stones are discrete calcified bodies found in the dental pulp. Sialolithasis is the most common salivary gland disease. The aim of the present study was to determine the relationship between the pulp stones and salivary gland stones. MATERIAL AND METHODS 196 patients were randomly selected from the out patient department for the study. The periapical radiographs for all patients were...
متن کاملArterial calcifications
Arterial calcifications as found with various imaging techniques, like plain X-ray, computed tomography or ultrasound are associated with increased cardiovascular risk. The prevalence of arterial calcification increases with age and is stimulated by several common cardiovascular risk factors. In this review, the clinical importance of arterial calcification and the currently known proteins invo...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2017
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000166