Neurological, Electroencephalographic, and Heredo-Familial Aspects of Pseudohypoparathyroidism and Pseudo-Pseudohypoparathyroidism

Abstract

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).

Albright's hereditary osteodystrophy: A review

“…Other large masses have been described [ 18, 921. Histological confirmation of heterotopic bone was presented several times [2,19,71,87,156,1721. Ossification in A H 0 is often periarticular but can be found on the scalp, the basal ganglia, cerebral hemispheres, falx cerebri, the back, the abdominal wall, the pelvis, thorax, femoral arteries, and the aorta.…”

Neurological and psychiatric manifestations in idiopathic hypoparathyroidism: response to treatment.

“…Epileptic attacks are frequent in about 40 to 50 % of patients with idiopathic hypoparathyroidism (Willison and Whitty, 1957;Dickson, Morita, Cowsert, Graves, and Myer, 1960). The frequency of attacks is less after post-operative hypoparathyroidism, presumably because the hypocalcaemia is less severe.…”

Mineralization of the central nervous system in pseudopseudohypoparathyroidism (PPH).

“…Several cases have been reported of PH and PPH occurring in the same family (Dickson, Morita, Cowsert, Graves, and Meyer, 1960;Gershberg and Weseley, 1960;Todd et al, 1961;Hermans, Gorman, Martin, and Kelly, 1964;Hinkle, Travis, and Dodge, 1964) and of isolated features of PH in families with well-documented PPH (Cruz and Barnett, 1962;Hermans et al, 1964). Other cases have been reported which seem to change in the course of the disease from one syndrome to the other (Palubinskas and Davies, 1959;Ray and Gardner, 1959;Hinkle et al, 1964).…”

“…By contrast, PPH has only two reported instances (Palubinskas and Davies, 1959;Tanz, 1960) of mineralization of the basal ganglia detected clinically with no opportunity for a post-mortem analysis. At least 75 cases of PPH have been described in which there was noknown involvement of the basal ganglia (Albright et al, 1952;Milesand Elrick, 1954;Roche, 1955;McNeely, Raisz, and Le May, 1956;Seringe and Tomkiewicz, . Wallach, Englert, and Brown, 1956;Bronsky, Kushner, Dubin, and Snapper, 1958;Casey, Fast, and Cherniack, 1959;Ray and Gardner, 1959;Rubinstein and Cody, 1959;Barr, Taylor, and Rabkin, 1960;Dickson et al, 1960;Gershberg and Weseley, 1960;Hortling, Puupponen, and Koski, 1960;Tanz, 1960;Ahmed, 1961;Gibson, 1961;Schwarz, 1961;Todd et al, 1961;Uhr and Bezhaler, 1961;Cruz and Barnett, 1962;Hermans et al, 1964;Hinkle et al, 1964;Becker, Hoffman, Hermans, and Martin, 1965;Jancar, 1965;Schaaf, Wagner, and Schwarz, 1966;Morisaki, Sugawara, and Yoon, 1967;Emanuelli and Pellegrini, 1968;Kelly, 1968). The demonstration by Palubinkas and Davies (1959) of conversion of a PH patient without calcification to a PPH syndrome with mineralization of the basal ganglia is quite important.…”