title: Massive cerebral calcifications associated with increased renal phosphate reabsorption.
abstract: Extensive bilateral cerebral cortical calcifications were demonstrated in a young patient with a history of convulsions since the age of 4 years. Initial metabolic workup showed normal serum calcium levels, hyperphosphatemia, normal renal function, low urinary calcium excretion, and normal serum immunoreactive parathyroid hormone levels. The intravenous infusion of edetate disodium (disodium EDTA) showed a normal phosphaturic and cyclic adenosine monophosphate response, ruling out the diagnosis of pseudohypoparathyroidism. The infusion of acetazolamide produced a blunted phosphaturia with almost no change in the renal phosphorus threshold, suggesting a tubular defect that allows enhanced proximal tubular reabsorption of phosphorus. Although the exact mechanisms responsible for the localized calcifications remain obscure, we suggest that an enhanced proximal tubular reabsorption of phosphorus could be involved in the pathophysiologic basis of this abnormality.
authors.forename: J R
authors.initials: JR
authors.lastname: Weisinger
authors.forename: A
authors.initials: A
authors.lastname: Mogollón
authors.forename: R
authors.initials: R
authors.lastname: Lander
authors.forename: E
authors.initials: E
authors.lastname: Bellorin-Font
authors.forename: R
authors.initials: R
authors.lastname: Riera
authors.forename: I
authors.initials: I
authors.lastname: Abadí
authors.forename: V
authors.initials: V
authors.lastname: Paz-Martínez
mesh_terms: D000042:Absorption; D000086:Acetazolamide / Q000627:therapeutic use; D000293:Adolescent; D001927:Brain Diseases / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D002114:Calcinosis / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D002118:Calcium / Q000652:urine; D002540:Cerebral Cortex / Q000000981:diagnostic imaging; D004492:Edetic Acid; D006801:Humans; D007687:Kidney Tubules, Proximal / Q000378:metabolism; D008297:Male; D010710:Phosphates / Q000378:metabolism*; D011859:Radiography; D012964:Sodium / Q000652:urine
chemical_list: D010710:Phosphates; D004492:Edetic Acid; D012964:Sodium; D000086:Acetazolamide; D002118:Calcium