CONGENITAL HAEMOPHILIA WITH Cbe Ibtstorg ot a IRemarkable Case BY EDMUND C. WENDT, M.D. CURATOR AND PATHOLOGIST OF THE ST. FRANCIS HOSPITAL, AND OF THE NEW YORK INFANT ASYLUM Reprinted from The Medical Record, February 19, 1887 NEW YORK TROW'S PRINTING AND BOOKBINDING CO. 201-213 East Twelfth Street 1887 CONGENITAL HEMOPHILIA WITH £be Ibistorp ot a TRematkable Case BY EDMUND C. WENDT, M.D. CURATOR AND PATHOLOGIST OF THE ST. FRANCIS HOSPITAL, AND OF THE NEW YORK INFANT ASYLUM Reprinted from The Medical Record, February 19, 1887 NEW YORK TROW'S PRINTING AND BOOKBINDING CO 201-213 East Twelfth Street 1887 CONGENITAL HEMOPHILIA, WITH THE HIS- TORY OF A REMARKABLE CASE.1 For the history of this case the writer is indebted to Dr. Kate Parker, House Physician of the New York Infant Asylum. The case occurred in the service of Dr. George B. Fowler. Howard B was born at 4 a.m., November 30, 1886. His mother was a remarkably well-developed mulatto woman in perfect health. Special inquiry failed to elicit any history of syphilis, nor did a careful and searching examination give the slightest evidence of the disease, past or present. The mother's family was stated to en- joy perfect health. No cases of hemorrhage were known to have occurred in any of its members. Regarding the father, no other facts could be learned than that he was apparently in excellent health. The mother was twenty-five years of age and a primi- para. Pregnancy had progressed undisturbed to full term. The delivery was a very easy and natural process The first stage of labor lasted just six hours and ten min utes. The duration of the second stage was only ten minutes, and birth was almost precipitate. It was a ver- tex presentation, with right occipito-anterior position. The weight of the child at birth was nine pounds and eight ounces. The infant's appearance would have been quite normal, except for a swelling above and in front of the right ear, with purplish discoloration of the integu- ment. Nothing unusual occurred until 7 a.m. on the following day. At that time there was a severe hemor- 1 Read before the Manhattan Medical and Surgical Society, January 8, 1887. 4 rhage from the umbilicus, which was apparently checked, however, by the usual treatment. Two slight attacks of epistaxis followed, and some blood was also rejected by vomiting. At 11 p.m. oozing from the navel was again noticed. Although the blood seemed to come from sev- eral points, the oozing was most marked at the line of separation from the integument. In spite of all efforts to control it the bleeding continued, with but slight inter- missions, until the death of the infant, on the following day, December 2d, at 4 p.m. Before death a few pur- pura-like spots had made their appearance on the skin of the trunk and extremities. The tumefaction above the ear had perceptibly increased in volume. Death was evidently due to exhaustion from loss of blood. The weight of the child after death was found to have become reduced to eight pounds and nine ounces. To complete this rather brief clinical record, it should be added that there was no post-partum hemorrhage, that the mother passed through an absolutely normal childbed, and that the placenta was healthy, at least so far as gross appearances were concerned. A microscopical examina- tion was not made. At the autopsy, which was performed twenty-two hours after death, the following observations were made : The body of the mulatto infant appeared plump and well nourished. Cadaveric rigidity was well marked. No petechias or ecchymoses were visible on the integument. The right post-aural region was occupied by a doughy tumor, over which the skin was colored purplish blue. A hard, shrunken mass, to which adhered crusts of coagulated blood, represented the soft part of the um- bilical cord. At the line of junction with the integu- ment a few small and superficial erosions could barely be made out. The umbilical vessels were carefully pre- pared, and, 011 opening the abdomen, traced into the liver and through the hypogastric arteries into the iliacs. They were patent on section, and presented no abnormality whatsoever. They contained no blood. 5 When the abdominal cavity was opened about two tablespoonfuls of fluid blood were collected from its different compartments. The blood was thinner, but not lighter-colored than normal. Not a single clot was anywhere discoverable. Between the layers of the omen- tum quite an accumulation of blood was seen. A large patch of extravasated blood appeared under the dia- phragm. Similar hemorrhagic effusions, but of less ex- tent, were found at other points within the abdominal cavity. All the contained organs looked pale, but not shrunken. In the stomach no blood was found. The mucosa was strikingly bloodless. The spleen was larger than normal, of firm consistency, and relatively rich in blood. The liver was very pale, not enlarged, and not fatty. No hemorrhagic spots were found in its interior. No inflammatory lesions were present, and no ruptured blood-vessel could be discovered here, or elsewhere in the body. Before opening the chest the muscles were dissected away from the ribs. In this way a very large hemor- rhagic effusion came to view beneath the fascia of the left pectoralis major, and extending directly into the substance of both pectoral muscles. The skin covering the region in question was not discolored. The pericardial sac contained about one teaspoonful of blood-stained serous fluid, but only one small subperi- cardial effusion of blood was seen. The muscular substance of the heart was pale and firm. The cardiac chambers of the left side contained a small quantity of thin, fluid blood. The cavities of the right side contained considerably more, but otherwise similar blood. Clots were nowhere to be seen. The foramen ovale was found closed. The ductus arteriosus was still pervious. All the valves were well formed, but appeared unusually delicate in structure. The calibre of the vas- cular trunks proceeding from or going to the heart was not abnormally small. 6 The lungs presented a beautiful and striking appear- ance. Numerous hemorrhages had occurred, into the substance of the pulmonary tissue. The result was a mottled look, well-defined patches of bright red forming a sharp contrast to the marked whiteness of the healthy portions. The hemorrhagic islands were everywhere clearly defined by the boundaries of the pulmonary lob- ules, so that a mosaic-like appearance resulted. The hemorrhagic territories were of almost uniform size, only exceptionally involving more than two lobules. The bleeding must have been the result either of countless capillar)' ruptures or, more probably, extravasation by diapedesis. On dissecting the scalp, in order to expose the calva- rium, another very extensive effusion of blood was dis- covered. The tumor behind the ear, mentioned above, was found to consist of one mass of effused blood. The extravasated fluid occupied the tissues of the scalp, ex- tending over all the bones of the skull, excepting only the left parietal part of the left temporal and the left half of the frontal bone. No blood had escaped beneath the pericranium, however, thus constituting a noteworthy de- parture from what is the rule in ordinary caput succe- daneum. Both fontanelles were unusually large and quite soft. On exposing the brain the vessels of the pia were seen to be very scantily supplied with blood. There was a moderate amount of clear serous accumulation in the subarachnoid spaces, especially toward the depending occipital region. The substance of the brain was of waxy pallor, and its consistency was above the normal. In the venous sinuses some fluid blood was seen, but again no clots were visible. In trying to properly interpret this case, remarkable alike for the severity, the extent, and the very early occurrence of the fatal hemorrhages, we are confronted by all the uncertainty that pertains to the entire subject of haemophilia-or the hemorrhagic diathesis, as it has 7 been called. The infant whose history has just been given evidently bled even before birth. For the tumor about the ear was clearly the result of a hemorrhage that must have taken place while the foetus was in utero. Whether any of the other extravasations noticed at the autopsy occurred before delivery is doubtful. At any rate, the condition of the effused blood makes it certain that they did not precede birth by many days, or even hours. Haemophilia is pre-eminently a hereditary disease; more so, probably, than any other known malady. Its history has shown that direct transmission is by no means always observed. Some of the worst cases apparently skipped one generation, to appear in the offspring of parents themselves seemingly free from all "bleeding" taint. Indeed, transmission by so-called transgressive heredity is held by some observers to be more common than the immediate parental variety. While, therefore, the parents of this infant were, so far as known, in good health, there is no reliable record extending farther back to show that bleeders may not have existed in older gen- erations. But there are other points connected with this case de- serving our attention. An examination of the literature of haemophilia shows that, even in bleeder-families, con- genital hemorrhages, as well as hemorrhages during the first few days of extra-uterine life, have been very rarely observed. The cases of Winckel1 appear to be about the best-observed ones of those that can be vouched for. Perhaps it is proper to add the cases mentioned in an article on haemophilia by Dr. Dunn, which was published in the American Journal of the Medical Sciences, Janu- ary, 1883. This author briefly refers to a number of cases of bleeding in infancy. One child is alluded to as having bled from birth. Another " died of umbilical hemorrhage 1 Winckel's two cases of congenital haemophilia, the hemorrhages occurring in new-born infants, are found in the Berichte und Studien aus dem Kon. sachs. Entbindungs Institut zu Dresden. Leipzig, 1874. 8 after bleeding fifteen days, dating from birth." Still an- other " had from birth spontaneous hemorrhages from nose, kidney, and bowel." All these cases concerned children belonging to families of bleeders. In no in- stance does the author give us a complete clinical record, or a description of post-mortem appearances. Resuming the consideration of the writer's case, the question naturally suggests itself whether the assumption of haemophilia is entirely justifiable, or whether we should not rather seek elsewhere for an explanation of the hem- orrhagic phenomena observed. There is but one disease that, in the writer's opinion, can possibly be thought of in this connection-namely, syphilis. But reference to that disease will be made farther on. Haemophilia is so rarely brought to our notice in this country that it seems admissible here to quite briefly go over tolerably well-known ground, covering at least some of the leading facts relating to the disease. Haemophilia, then, or haemorrhaphilia, or haematophilia, or morbus haematicus, or diathesis hemorrhagica ha- bitualis, are all terms used to denote a constitutional tendency to bleed, either in consequence of some slight traumatism or without discoverable cause-i.e., sponta- neously. A constitutional vice of this kind has for a long time been known to be hereditary in certain fami- lies, commonly called bleeders. Haemophilia is certainly not a disease frequently ob- served in America, nor does it appear to be at all com- mon in other countries. It is much oftener seen among the fair-complexioned Anglo-Germanic races than among the darker types of Roman or Slavonic origin. The truth of this proposition must be maintained, even against Virchow's suggestion, that the greater prevalence of hae- mophilia among the Teutonic races was only apparent, and due to the fact that the proportion of " writing physicians" (meaning actual, not potential, writers) was relatively so very large among the Germans. According to Immermann's figures, out of a total of 9 219 families of bleeders Germany furnished 94; Great Britain, 52; North America, 23; France, 22; Russia and Poland, 10 ; Switzerland, 9 ; and other countries the remainder. The great preponderance of male over female haemo- philes is a rather curious and a hitherto explained feature of the disease. In 1877 Grandidier published records of 200 in- disputable bleeder-families. These furnished 609 male haemophiles and only 48 females, or a proportion of nearly 14 to 1. Dunn has collected 780 cases (includ- ing 631 mentioned by Grandidier), of which number 717 were males and 63 females, or a ratio of n to 1. Forster states that among the very young there is less numerical disparity between the two sexes. As a rule, the first indication of the existence of a hemorrhagic diathesis occurs early in life. Thus Gran- didier found that the initial hemorrhage took place within the first year of life 58 times in 95 well-authenticated cases. Nasse appears to be the only writer who distinctly states that haemophilia may be the cause of foetal hemorrhage.1 Forster himself is of opinion that the " bleeder disposition " is only developed after the circula- tory and other changes incident to childbirth have oc- curred. Eichhorst, in his " Handbook of Practical Medicine," as well as in an excellent article on the subject in "Eulenburg's Real Encyclopaedic," says that the con- genital form of haemophilia is allied to the hereditary disease. According to this accurate observer, congenital haemophilia includes those cases in which children are bleeders, although the parents come of healthy families. Very little is known concerning the causes of congenital haemophilia. Among those mentioned are marriage between blood-relations, phthisis, scrofula, rheumatism, or gout in the parents, and fright during pregnancy. 1 Forster, in Gerhardt's Handbuch der Kinderkrankheiten, vol. iii., p. 240. 10 It will be seen from this enumeration that syphilis is conspicuous by its absence from Eichhorst's list of causes. He also states that children sometimes fall victims to the disease immediately after birth, as the result of uncon- trollable hemorrhage after tying the umbilical cord. Several authors have denied this, and Lange positively asserts that umbilical hemorrhage is not observed in con- sequence of haemophilia. It is certainly a very excep- tional occurrence. In the writer's case it will be remem- bered that the umbilical hemorrhage was not controlla- ble, and became a prime factor in determining an early fatal issue of the disease. The hemorrhagic diathesis generally lasts the entire lifetime of an individual. While it commonly leads to death at an early age, Simon and others have recorded cases where the patients lived above seventy and even ninety years of age (Simon, R'echerches sur T hemophilic; These de Paris, 1874). Sometimes the disease is unsus- pected until the extraction of a tooth or some trauma- tism reveals its presence by a dangerous and intractable hemorihage. Circumcision has repeatedly led to death in this way. Scratching, leeching, cupping, scarification for vaccination, and even the application of a vesicant to the skin, have each had fatal consequences. Butin most cases of haemophilia the bleeding takes place spontane- ously, as well as in consequence of some injury. Thus there may be epistaxis, profuse menorrhagia, haematuria, intestinal hemorrhage, haemoptysis, bleeding from the mouth, bleeding into the auditory canal, or from the caruncula lacrymalis, or into the joints, or hemorrhage of the brain and its meninges. In a word, no tissue or organ supplied with blood can be said to be exempt from hemorrhagic accidents in this disease. Regarding the true nature of haemophilia nothing def- inite is known, and it would be far from profitable to recite the various views that have been advanced at different times to account for its morbid manifestations. Suffice it to say that opinions have hinged mainly on 11 whether haemophilia was dependent upon faulty blood- composition or upon abnormalities in the structure of the vessels, or upon a combination of both conditions. It is reserved for future investigations to shed light upon this obscure field of pathology. The prognosis and treatment of haemophilia are not pertinent to this article. It remains, therefore, to in- quire whether the case related above cannot be better explained by placing it under the head of hemorrhagic syphilis of the new-born. That syphilis may lead to multiple hemorrhages in the new-born is to-day doubted by few. But the subject has only recently been care- fully studied. Now, it appears that extravastion of blood into the tissues has never been observed to be the only sign of hereditary syphilis. In the writer's case, it will be remembered, no other sign of disease was discover- able. Behrend, in 1883, described a condition to which he gave the name of hemorrhagic syphilis of the newly born. Kassowitz, Deahna, Schutz, and others confirmed his observations; while Petersen and several others opposed them, and to this day deny the existence of a hemor- rhagic diathesis due to hereditary syphilis. The most re- cent, and probably the most important, contribution to this subject is contained in a paper read at the Fifty- ninth Congress of German Naturalists, held at Berlin, and published in the Wiener Medizinische Wochen- schrift, November 6, 1886. Dr. Mracek, the author of the paper, is a lecturer on syphilis at the University of Vienna. His studies and observations were made under the supervision of Professor Kundrat, and extended over a period of four years. It is not necessary to follow the author into the details of his investigations. But there can no longer be any reasonable doubt that there is such a condition as " syphilis hemorrhagica neonatorum," or a hemorrhagic diathesis due to hereditary syphilis. It is equally certain, however, that these cases show numerous and well-marked anatomical lesions, chiefly concerning 12 the blood-vessels of the body. As no such lesions were present in the writer's case, it must for this, if for no other reason, be excluded from the group of syphilitic affections of the new-born. It will have to go on record, there- fore, as an instance of congenital haemophilia, thus justi- fying the selection of the title for the present communi- cation. 712 Madison Avenue.