Dr. Gordon . New, Rochester, Minn. : I was much inter¬ probably exists everywhere; and no white race is ested in the case Dr. Beck reported, but, as the group I am exempt." were all it was not included. reporting malignant cases, The case described here illustrates that mongolian Regarding the retromaxillary group, I have seen several cases idiocy occurs in the race, and the with secondary involvement of the nasopharynx from retro¬ Mongolian Mongolian features of mongolian idiocy are not masked by the maxillary malignancy. I believe these are entirely different features from those I mention in The I am Mongolian of the Mongolian race. Indeed, my paper. group reporting the are primarily nasopharyngeal tumors and are usually in Rosen- family of the affected boy testified that "his eyes müller's fossa. I did not mention treatment because I felt are more slitlike than those of the other children." that if I did I would get away from the question of diagnosis. CASE We have seen many of these patients who were treated with REPORT OF radium continue well for three or four years, and feel that it From the mother it was learned that the child was born is the only treatment that offers relief. When surgery has at term. No instruments were used, and there was no been attempted, most patients have been made worse. asphyxia. The child was breast fed. The first tooth appeared at 11 months. The child crawled at 13 months, sat up at 14 months, and walked at 2 years. The other children of the family walked at 1 year. The first word was at 14 MONGOLIAN IDIOCY IN A CHINESE spoken months, and distinct phrases were used at 4 years. His BOY speech was never so distinct nor so fluent as that of the other children. It was always guttural in tone. Nocturnal enuresis I. HARRISON TUMPEER, S.M., M.D. stopped at S or 6 years, but a tendency remained. Later, it Professor and of Associate Head the Department of Pediatrics, Post was learned that the child was delivered by Dr. Effie Graduate Hospital and Medical School; Adjunct in Pediatrics, Lo'bdell, who the information that the labor was Michael Reese Hospital gave normal. At 6 months, she recognized the condition and prescribed thyroid CHICAGO extract combined with pituitary extract in 2-grain (0.13 gm.) three times The term is a condi- doses, daily. This was continued at varying "mongolian idiocy" applied to intervals tion certain children of retarded devel- for three years. Dr. Lobdell had noted the short, presented by thick fingers and the constant The mental and drooling. child was opment manifesting peculiar physical taught to walk in a chair and was found to be very imitative. phenomena, the most remarkable of which is the resem- blance to the Mongolian facies. The mongolian idiot resembles the Mongolian in the oblique palpebral fis- sure, epicanthal fold, widely placed eyes, flat-bridged, snub nose and expanded ali nasi. Brachycephaly is present in both; but the flattening of the occiput is characteristic of the idiot. The mongolian idiot differs physically from the Mongolian in the squat hand with tapering fingers, short thumbs and short, incurvated little fingers, the second phalanx of which is shorter than the terminal. His hair is not usually black, although it may be straight and is often wiry. The face is broad, but it is moon shaped and has no promi- nent cheek bones. He is small in stature and has broad, flat feet. There is marked hypermobility of the joints. There are chronic infections of the mucous membrane, with affections of the lids, lips', nose and throat. The tongue is furrowed and fissured from con¬ stant motion. It is described as "scrotal" by the French writers. There is no blue spot. The voice is guttural. Changes in the sella turcica have recently been described by Timme.1 The mongolian idiot differs mentally from the Mongolian in his retarded develop¬ ment, marked restlessness and activity, mimicry and indifference to his surroundings. In addition, the idiot manifests a fondness for music, exhibits a good sense of rhythm, is very amiable, has a good memory, and is 2 usually contented. Sutherland happily states that the Fig. 1.—Appearance of patient. "smiling face of the mongolian imbecile suggests the possession of a secret source of joy." The mother stated that he had never had an acute illness, From the time of Langdon Down,3 who first although the drooling and purulent nasal discharge were described in until the practically constant. mongolian idiocy 1866, present, The died cases have race. paternal grandparents in China at 71 and 74 the reported belonged to the Caucasian of The In 1903, Muir 4 concluded from his that years age. maternal grandparents were living in investigations China. The family was Cantonese. The father was 66 years was a this peculiar form of retardation matter of the of age and the mother 38. They were not related to each Caucasian race and summarized thus : "Mongolism other. All the children were born in the United States. There were nine pregnancies. There are no other retarded From the of the Post and Medi- Pediatric Clinic Graduate Hospital children in the immediate or remote cal School. family, and there are no cases 1. Timme, Walter: The Mongolian Idiot: A Preliminary Note on the of supernumerary digits, such as are sometimes Sella Turcica Finding, Arch. Neurol. & Psychiat. 5:568 (May) 1921. found. 2. Sutherland: Lancet 1:23, 1900. In to a as to 3. Down, Langdon: London Hosp. Rep., 1866, p. 259. response question whether they had noted 4. Muir: Arch. Pediat. 1903. 20:161 (March) anything peculiar about the boy, his mother and a cousin, a

Downloaded From: http://jama.jamanetwork.com/ by a Johns Hopkins University User on 06/09/2015 student at the university, volunteered that his eyes were more flattened, and there was a shadow under the anterior clinoid slitlike than those of the other children, his tongue was process (Fig. 3). There was some separation of the sutures larger, and his head was flatter; the other Chinese children in the vertex of the skull, and there were digital impressions, of the neighborhood as well as his own brothers and sisters particularly in the frontal region. knew that he was different. His mother also stated that The mental age of the child was 3 years and 4 months by he was always happy, gave her no trouble, and did not even the Stanford revision of the Binet-Simon scale. care if his playthings were taken from him. Examination revealed a moon-faced boy, who looked as CONCLUSIONS if his face had been pushed in (Fig. 1). His mouth hung 1. This Mongolian child was a mongolian idiot in the generic sense of the word, as proved by the typical findings of the oblique palpebrai fissture, epicanthal fold, flattened bridge, widely placed eyes, "pushed in" face, flattened occiput, scrotal tongue, guttural voice, squat hands, Telford Smith5 finger, stub thumbs, hypotonia, excavation of the sella turcica and other less characteristic findings, such as chronic nasopharyngeal infection, undescended testicle and inward bowing of the phalanges of the great toe. There was further proof in the characteristic mental phenomena of restless¬ ness, amiability, mimicry, good memory and mental retardation. 2. The most recent finding in mongolian idiocy is here confirmed. In twenty-three of his twenty-four cases, Timme found an excavation under the anterior clinoid process and presumably under the olivary process and the optic groove. It communicated with the anterior portion of the fossa itself. He suggests that this change may explain the stature and lack of sexual development. 3. case Fig. 2.—Appearance of hands: incurvated little finger, shortening of This speaks against the theory of exhaustion second phalanx of little finger, and normal centers of ossification. of the generative organs as the etiology of mongolian idiocy, since there were normal children born before open, and a mucopurulent discharge issued from his nostrils. and after the patient. If the idea of exhaustion be The lobules of the ear were adherent, and the bridge of the even remotely entertained in this instance, it must be were and there nose was flattened. The eyes widely spaced, ascribed to the paternal element and not the usually was a marked epicanthal fold. The teeth were irregular, and condemned maternal element, since the father was 57 were decayed. The pupils reacted to light and accom¬ many and the mother 29 at the birth of the modation, and were equal. The tongue was of the typical boy. "scrotal" variety. The tonsils were large and irregular, and the throat was congested. There were signs of blepharitis. The chest and abdomen were not remarkable. There were no signs of the congenital heart lesions which are often described. The prepuce was long, and the left testicle was not in the scrotum. The reflexes were all active. There was marked hypotonia, with hypermobility of the joints, so that the most bizarre attitudes were adopted with ease. He assumed the uterine position on lying down. The hands were squat ; the fingers tapered ; the thumbs were stubby ; the little fingers were incurvated and did not reach the terminal phalangeal joints of the adjacent fingers. There was general adenopathy. The scapulae were moderately scaphoid. There was no blue spot. The weight was 46j4 pounds (21 kg.); height, 122.5 cm.; sitting height, 68.3 cm.; occipitofrontal circumferences, 46.6 cm. ; the anteroposterior diameter, 1S.4 cm. ; biparietal diam¬ eter, 14 cm.; the arm span, 116.5 cm.; the interacromial diam¬ eter, 26 cm. ; the intercristal diameter, 19 cm. ; the chest circumference, 55 cm., and the abdominal circumference, 55 cm. Ophthalmoscopic examination revealed no cataract. There was marked myopia. The pulse rate was 88; blood pressure, 96 systolic, 70 Fig. 3.—Appearance of skull: shadow communicating with anterior diastolic. portion of fossa of sella turcica. An electrocardiogram revealed a sinus arrythmia, a R interval of 0.14 second, and slight notching of Rm. 4. The fact that the basal metabolism rate was not The basal metabolism, with a Tissot apparatus, was 9 per significantly lowered confirms the view that this condi¬ lies cent, below the usual, which within the normal limits. tion is not primarily, at least, a thyroid hypofunction, The Wassermann test on the blood was negative, as deter¬ and should not, therefore, be confounded with mined two different laboratories. by This may also Roentgen-ray examination revealed that the second phalanx myxedema. explain why striking of the little improvement of these cases by thyroid feeding is not finger was shorter than the third. This finger observed. curved inward (Fig. 2). There was also a marked inward curve of the phalanges of the big toe. The sella turcica was 5. Smith, Telford: Pediatrics 2:315, 1892.

Downloaded From: http://jama.jamanetwork.com/ by a Johns Hopkins University User on 06/09/2015 5. The term idiocy is inaccurate because the mental have sufficient strength. It was fed artificially with mother's age reached by those affected is nearly always from milk during six days. The bowels functioned fairly regularly, 3 to 7 years. The condition is more properly mongolian with evacuation during the first few days of large quantities imbecility. of meconium. The was 35.2 C. one after birth 25 East Washington Street. temperature (9S.4 F.) hour and ranged between 36 and 38.6 (96.8 and 101.4 F.) until the day before death, when it again dropped to 35.4 C. (95.8 F.). Just before death it was normal. CONGENITAL MALFORMATION OF THE HEART

WITH COMPLETE OBLITERATION OF THE PULMONARY ARTERY O. J. RAEDER, M.D. PARIS, FRANCE

The question of cardiac malformation is one of those questions supported by contradictory theories which frequently enliven and stimulate productive discussion in what would otherwise be sterile sessions in certain medical research gatherings. And so anomalies of the heart have furnished controversial subject matter since the time of Meckel and Cruveilhier.

REPORT OF CASE Baby D., born at term, Nov. 20, 1920, with high forceps delivery on account of inertia uteri, died, November 28. The mother, a primipara, aged about 40, and father, aged about 45, were in good health. The Wassermann test was not made and no history of syphilis was given. The child did not breathe regularly. The circulation at times was fairly good, though the color was never a bright baby-pink. One hour after birth, the infant became very cyanotic and the breathing was bad. Mustard baths and

Fig. 2.—Origin of pulmonary artery in epicardium: a, small button; b, ductus arteriosus; &', tear in ductus arteriosus; d, e, f, brachiocephalic trunks; m, n, branches of pulmonary artery; r, aorta.

The infant died on the ninth day, with fairly good color under administration of oxygen, of cardiac failure. Necropsy Report. — Abdominal section revealed nothing worthy of note, either from the point of view of pathology or teratologically. The pleural cavities were normal. The lungs showed no morphologic changes. There was hypostatic congestion to a moderate degree, more marked on the left. The pericardial sac contained a slight amount of clear light straw-colored fluid. The heart measurements were : base to apex, 4.2 cm. ; breadth, 3.5 cm. ; thickness, 2.7 cm. ; left ventricle, wall, from 3 to 4.5 mm. ; right ventricle, wall, from 2.5 to 3 mm. (hypertrophied) ; mitral valve, from 26 to 27 mm.; aortic valve, 25 mm.; tricuspid valve, 35 mm.; pulmonary artery origin, 6 mm.; left branch, 10 mm.; right branch, 9 mm.; ductus arteriosus, 11 mm.; foramen ovale (diameter), 4 to 5 mm. The aorta was larger than normal. The pulmonary artery was very small, tapering down toward its origin from the right ventricle : here its wall was thinner and showed a tendency to collapse slightly, like a vein. The muscle was Fig. 1.—Left side of heart: a, pulmonary artery; c, ductus arteriosus; firm, the right ventricle hypertrophied. On section, the left g, interventricular defect; o, foramen ovale, partly covered by membrane. ventricle opened into the large aorta. There was communi¬ cation with the right ventricle by means of an opening in were administered oxygen with prompt result. The breath- the interventricular septum. There was no outlet from the ing and color was always much better when the infant was right ventricle except into the left ventricle at the mouth of held in the vertical whereas if it was position; held horizon¬ the aorta, which was displaced to the right so that its orifice there was a more or less tally, marked tendency to cyanosis. almost straddled the interventricular septum. The mitral and On the second the child was day, put to the breast, and tricuspid valves showed small nodules, some of them dark it to nurse on two though attempted occasions, it did not colored, probably the remains of a fetal endocarditis. The aorta was with three efficient valve From the obstetric service of Dr. Bouffe de St. Blaise, whom I supplied cusps, wish to thank for his kind permission to study this case. the coronary orifices normally placed behind them. The arch

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