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Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare genetic disorder, which affects multiple organs. [ 1 ] [ 2 ] Its hallmarks are widespread progressive calcifications , cysts and abnormalities of the white matter of the brain, usually occurring together with abnormalities of the blood vessels of the retina .
NAA60 was found to be important in brain phosphate homeostasis. It was identified as causative of the genetic disease primary familial brian calcification (PFBC). [ 9 ] PFBC is a neurodegenerative disease characterized by bilateral calcification distributed in the basal ganglia, thalamus, and cerebellum.
Familial hypocalciuric hypercalcemia (FHH) is an inherited condition that can cause hypercalcemia, a serum calcium level typically above 10.2 mg/dL; although uncommon. [1] It is also known as familial benign hypocalciuric hypercalcemia (FBHH) where there is usually a family history of hypercalcemia which is mild, a urine calcium to creatinine ratio <0.01, and urine calcium <200 mg/day ...
Hand radiograph showing tumoral calcinosis, PA radiograph of the right hand showing tumoral calcinosis-like metastatic calcification in a patient on dialysis. Dialysis alters calcium phosphate product (>70). Idiopathic tumoral calcinosis is autosomal dominant and is not associated with dialysis. Note the premature arterial calcification which ...
Additional characteristics include short stature, obesity, developmental delay, and calcification of the basal ganglia in the deep white matter of the brain. [ citation needed ] Type 1a pseudohypoparathyroidism is clinically manifest by bone resorption with blunting of the fourth and fifth knuckles of the hand, most notable when the dorsum of ...
This presentation of the disease is characterized by microcephaly, neonatal seizures, poor feeding, jitteriness, cerebral calcifications (accumulation of calcium deposits in the brain), white matter abnormalities, and cerebral atrophy; thus indicating that the disease process became active before birth i.e. in utero. [13]
Treatment may include intravenous fluids, furosemide, calcitonin, intravenous bisphosphonate, in addition to treating the underlying cause. [1] [2] The evidence for furosemide use, however, is poor. [1] In those with very high levels, hospitalization may be required. [1] Haemodialysis may be used in those who do not respond to other treatments. [1]