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pseudohypoparathyroidism/cefalea
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5 risultati
Bilateral, symmetrical and extensive cerebral calcification in pseudohypoparathyroidism.
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Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biological activity of PTH. Pseudohypoparathyroidism is rare sporadic or autosomal dominant
Visual disturbances as a presenting feature of pseudohypoparathyroidism.
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BACKGROUND
Visual disturbance as a presenting feature of pseudohypoparathyroidism (PHP) is uncommon. Although papilledema is commonly reported with hypoparathyroidism primary or secondary, but not reported commonly with PHP.
METHODS
A 10-year-old male child presented to our outpatient service with
Plurihormone secreting pituitary macroadenoma masquerading as thyrotoxicosis: Clinical presentation and diagnostic challenges.
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Thyroid stimulating hormone (TSH) secreting adenomas are the rarest type of pituitary adenomas (1:1000000 in the population; 0.2- 2.8% of adenomas). Plurihormonal thyrotropic adenomas are even rarer usually having cosecretion of growth hormone (GH) and prolactin. We report perhaps for the first
Fahr's syndrome in Southern Tunisia: A broad spectrum of clinical and etiological features.
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OBJECTIVE
We describe the clinical and etiological profile of patients with Fahr's syndrome (FS).
METHODS
Charts of sixteen patients diagnosed with FS between 1999 and 2014 were retrospectively assessed.
RESULTS
The mean age at diagnosis was 44.68 years (11-67 years). The most main presenting
Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes.
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There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called 'Fahr's' disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically
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