Pseudohypoparathyroidism Causing Multiple Brain Calcifications
نویسندگان
چکیده
منابع مشابه
Pseudohypoparathyroidism Causing Multiple Brain Calcifications
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 کاملIntracranial Cortical Calcifications in a Focal Epilepsy Patient with Pseudohypoparathyroidism
Patients with chronic parathyroid dysfunction often have intracranial calcification in deep gray matter (GM) and subcortical white matter (WM) of their brain. Some of them are also epilepsy patients. Although cortical etiologies are main cause of epileptic seizure, cortical calcification has not been reported in these patients. We report a newly diagnosed focal epilepsy patient whose brain magn...
متن کاملScleral and choroidal calcifications in a patient with pseudohypoparathyroidism.
This case report suggests that calcifications in the sclera and choroid may be a feature of pseudohypoparathyroidism and shows a calcium distribution more extensive and severe than that characteristically seen in other metabolic conditions associated with calcium deposits in the eye. Ocular ectopic calcification is a part of the more generalised ectopic soft tissue calcification seen with pseud...
متن کاملBrain 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...
متن کاملA Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis
Various inactivating mutations in guanine nucleotide-binding protein, alpha-stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype correlation. Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene. Hormone resistance occurs not only to parathyroid hormone (PTH), but typically also to other hormones which signal via G pr...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2018
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.8926-17