Cerebro-metacarpo-metatarsal Dystrophy (pseudo-pseudo Hypoparathyroidism) with Chromosomal Anomaly.

Albright, Burnett, Smith, and Parson (I942) investigated a female patient of 28 years who had suffered from idiopathic epilepsy since the age of I2. Because the bones of the skull were unusually dense, hypoparathyroidism was suspected. The diagnosis was made when it was found that her Chwostek sign was positive and that her serum calcium and phosphorus levels were 6-4 and 6o mg. per I00 ml. respectively. Fortunately, it was decided, for certain academic reasons, to study the effect of parathyroid extract which is now no longer used in the routine treatment of hypoparathyroidism. She received 74 ml. (7,400 units) of parathyroid over a period of I2 days without any definite effect upon serum calcium or phosphorus levels. It was established that she had never received the parathyroid extract in the past, so that this amazing resistance to the hormone was not due to an antibody formation. Fortunately, she did respond well to dihydrotachysterol. She volunteered to undergo an exploration of the parathyroids, the biopsy of which showed normal parathyroid tissue. In addition, the authors described certain developmental abnormalities that served to delineate it from hypoparathyroidism, e.g. small stature, round face, and shortness of all fingers except the index finger, due to short metacarpals. They named the syndrome 'pseudo-hypoparathyroidism'. Ten years later in 1952, Albright, Forbes, and Henneman reported a case of pseudo-hypoparathyroidism in which all the usual anatomical stigmata were present, but serum calcium and phosphorus levels were normal and the patient exhibited no clinical evidence of hypoparathyroidism. They called this new syndrome 'pseudo-pseudo hypoparathyroidism'. Since these two original syndromes were described, the aetiology, relation, and nomenclature