The clinical spectrum of chronic hypocalcemia mimics various neurological and psychiatric pathologies. Although infrequently encountered, the diagnosis of non-iatrogenic primary hypoparathyroidism has to be considered in order to avoid severe complications or at least to improve neurological manifestations.
We present two unrelated cases of primary hypoparathyroidism clinically manifested in adulthood (case 1) and childhood (case 2). Very low-levels of PTH (3.1 and 0.11 ng/ml) during concomitantly hypocalcemia (6 and 6.6 mg/dl) with hyperphosphatemia (6.39 and 6.51 mg/dl) made for the diagnosis. However, the diagnosis was obvious only after developing known complications due to chronic hypocalcemia (subcapsular cataracts, cerebral calcifications). In one case, the long history of tetany crises was misattributed to a conversion neurosis despite repeated low serum calcium levels. Association with oral candidiasis not retractable after correction of hypocalcemia in the first case suggests the presence of polyglandular autoimmune syndrome type I. Early onset of symptoms and high calcium excretion levels in the second case raised the suspicion of a familial (autosomal dominant hypocalcemia) or sporadic mutation in the calcium sensing receptor. Remission of symptoms was achieved using calcium and 1alpha-hydroxyvitamin D as treatment, since PTH replacement therapy is not yet available in current medical practice. However, check-up revealed very high calcium excretion levels in the first case, calling for dose management and association of thiazide diuretics.
01 - 05 Apr 2006
European Society of Endocrinology