The Laurence-Moon-Biedl Syndrome Case Report With Complete Autopsy

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Abstract
An additional case of the Laurence-Moon-Biedl syndrome, studied clinically and at autopsy, is reported in detail. The 3 reported autopsies on cases of this syndrome, as well as 2 others kindly supplied by personal communication, are reviewed and discussed. A significant correlation of this case with one other consists of a striking predominance of basophilic cells in the ant. pituitary. Hypophyseal abnormalities were noted in 3 of 6 cases. The inclusion of the Laurence-Moon-Biedl syndrome within the scope of endocrinology, as well as that of genetics, embryology and neurology is logical, since the cases have always shown some abnormality of the endocrine mechanisms. The genetic responsibility of the production of the syndrome is unquestioned. In this case, in addition to the polydactylism, bilateral cataracts with blindness, possible mental deficiency, bilateral genu valgum, bilateral hydronephrosis, hypospadius, and hypertension, the endocrine implications included marked increase in the basophilic elements of the ant. pituitary, colloid goiter with hypothyroidism, hyperparathyroidism secondary to renal insufficiency, decreased carbohydrate tolerance, obesity, and genital hypoplasia. Future cases of the syndrome which come to autopsy should be studied completely and exhaustively from both the endocrine and neurologic standpoints.