Some contributions to the pathology of the endocrine organs of the patient suffering from arachnodactyly, with special reference to their etiological factors

Abstract

The author made an etiological observation upon a patient suffering from arachnodactyly aged 23 years; the patient had many other syndromes (Marfan's syndrome after Webe) to be dissected and examined thoroughly by the author. This is the first dissected case in Japan and the fifth in the world. (Salle-1912 ; Börger-1914 ; Piper and Irvine-Jones-1926 ; Ramber and Denenholz-1939.)
The medical examinations were performed as follows : -
Clinically : i) right-sided iris tremulans, dislocation and opacity of lens. ii) left-sided false eye. iii) arachnodactyly. iv) pulmonary tuberculosis.
Anatomically : i) arachnodactyly. ii) right-sided dislocation of lens. iii) pathisis (formation of cavity) iv) supprative diffuse peritonitis (due to the perforation of intestinal tubercular ulcer). v) aneurysma dissecans. vi) venticular and duodenal ulcers. vii) intestinal tubercular ulcer. iix) hepatic degeneration. ix) scoliosis.
Histologically : i) exsudative pulmonary tuberculosis. ii) splenic atrophy and amyloid degeneration. iii) hepatic oedema. iv) subacute parenchymatous nephritis. v) intestinal tuberculosis. vi) cellular hyperplasy of hypophysis with hypertrophy of the basophilious cells. vii) degenerative changes of thyroid gland (proliferation of the interstitial tissue and its hyaline degeneration ; atrophy and retrogradation of the follicles). iix) interstitial proliferation of testis with parenchymatous retrogradation and the arteriolosclerosis.
And the main syndromes found in this case can be summarized as follows ; long and thin body, arachnodactyly, imperfect development of muscles and subcutaneous fat layer, senile expression of the face, infuudibular thorax, scoliosis, flat foot, dislocation of lens, aneurysma dissecans, cellular hyperplasy of the anterior pituitary body, retrogradation of thyroid and testis, etc.
As the etiological factors of the suffering, there are some sorts of theories already proposed ; the endocrine theory, the hereditary theory and the abortive theory.
i) In may case, some obvious pathological changes were observed in the hypophysis, in the thyroid gland and in the testis, so that, it can never be denied that there may be some interrelations between the suffering and the endocrine organs.
ii) In my case, no hereditary taint was proved after the examination even only in the range of 2 generations. But there had been reported many cases which were proved to have a clear hereditary taint of this suffering ; and, moreover, the solitary outbreak of the suffering due to the mutation can be said to be considerable to acquire the later hereditary quality ; so that, the heredity of the suffering must be studied later on as a pending question.
iii) In my case, some disturbances of the development of the mesodermal tissues and the abortive theory can never be denied also. But it must be examined in what extent such mesodermal abortiveness has the connections with the endocrine disturbances or with the heredity.