J . Neurol . Neurosurg . Psychiat . , 1960 , 23 , 33 . NEUROLOGICAL , ELECTROENCEPHALOGRAPHIC , AND HEREDO - FAMILLAL ASPECTS OF PSEUDOHYPOPARATHYROIDISM AND PSEUDO - PSEUDOHYPOPARATHYROIDISM

The Neurology and Medical Departments of the Detroit Receiving Hospital have recently made clinical and electroencephalographic (E.E.G.) studies of two patients in a family in which several members appear to have either pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism. The findings were of sufficient interest to prompt us to review this subject and to present our findings since the neurological, electroencephalographic, and hereditary features of these rare conditions have not been reported in detail (Sugar, 1953; Frame and Carter, 1955), and the family history suggests that pseudo-pseudohypoparathyroidism may represent a forme fruste of pseudohypoparathyroidism. It is well known that disordered calcium and phosphorus metabolism may result in neurological and E.E.G. abnormality and only a brief summary of the physiology of the parathyroid glands together with a description of pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism will be given. The function of the parathyroid glands is to regulate calcium, phosphorus, and bone metabolism through the action of their hormone on the renal tubule and bone. Parathyroid hormone decreases tubular phosphorus reabsorption, increases urinary phosphorus, and thus decreases serum phosphorus. As a result, there are increased levels of calcium in the serum and urine. Such changes are due, not only to the action of parathyroid hormone on the renal tubules alone, but also to a direct action of the hormone on the matrix of bone facilitating the mobilization of calcium and phosphorus (Cames, 1950; Stewart and Bowen, 1951; Milne, 1951). Pseudohypoparathyroidism was first described by Albright, Burnett, Smith, and Parson (1942). In this condition, there is hyperphosphataemia and hypocalcaemia similar to true hypoparathyroidism;