Notes on Some Cases of Diabetes Insipidus with Marked Family and Hereditary Tendencies

Title: Notes on Some Cases of Diabetes Insipidus with Marked Family and Hereditary Tendencies
Author: McIlraith, Charles H.
Publisher: The Lancet
Date Published: October 01, 1982
Reference Number: 286
Reprinted with permission from Elsevier, (The Lancet, 1892, Vol ii:767-768) for educational use within the NDI community. No part of this article may be reproduced in any way without permission in writing from the publisher.

I have been induced to place on record the notes of certain cases of diabetes insipidus, thinking that they are of interest. Dr. Vincent Harris, under whose care the cases were in the City of London Hospital for Diseases of the Chest, Victoria-park, has kindly given me permission to send particulars of them for publication.

CASE 1. – The case which came most under observation was that of W. S—, aged fourteen, residing in Essex, who was admitted to the hospital on Jan. 2nd, 1892, with a slight cough and a history of wasting, which had been more marked for the preceding two or three months. About fourteen days previously to his admission he had what was called influenza, following on which he had one or two attacks of epistaxis of some amount. He also suffered for a day or two from considerable restlessness and feverishness at night, with drowsiness during the daytime and frequent dull headaches, localised at the top of the head, accompanied with pain behind the eyes, which were said to have had the appearance of being swollen. Since then he felt excessively weak. Even as a child he was subject to extreme thirst and passed large quantities of watery urine. At times he had an abnormal appetite. He never was a strong boy. From infancy till he was three years of age he had been subject to fits – loss of consciousness and struggling. He had measles and whooping-cough and at nine years of age some rheumatic attacks. There was no history of scarlet fever or chorea, and none of injury in childhood. He had always spoken slowly, and for some time had had a catch in his speech - a hesitancy in utterance akin to but not amounting to stammering. He was pallid, anæmic and listless, and at times drowsy; his forehead was broad and perpendicular, but the head was a fair size; his eyes were large and prominent and the pupils widely dilated; his chest was somewhat rounded in shape. There was no marked hollowing of the supra-clavicular or infra-clavicular fossæ. Expansion was good, and, with the exception of a slight harshness of the breath sounds at the left apex, there were no abnormal physical signs to be made out over the lungs. The area of cardiac dulness [sic] was not enlarged. The cardiac sounds were free from murmur, but the second sound was accentuated at the aortic base. The liver and spleen were not enlarged. So far as could be made out the kidneys were not unduly large. The bladder extended up to the umbilicus and after urination to midway between the umbilicus and symphysis pubis. The skin was dry and had to some extent a cutis anserina appearance. His hands and feet got easily cold and sometimes were quite livid. There was no hyperæsthesia or anæsthesia and no abnormal sense of heat and cold. His deep reflexes were normal, but his superficial reflexes were exaggerated, especially those over the abdomen. A tache cérébrale could be easily brought out over the chest and arms. His pupils contracted to light and accommodation only very slowly. His tongue was protruded and withdrawn slowly, and was tremulous when protruded. Movements generally were delayed. The muscular system appeared fairly well developed, but the muscles themselves were flabby. His appetite was good, his tongue was broad and flabby, slightly furred posteriorly. The bowels had a tendency to constipation. His thirst was considerable, and he passed a large quantity (about 200 ounces) of pale watery urine, which had a greenish tinge, no odour, a neutral reaction, a specific gravity of 1001, and contained no albumen or sugar and only a slight trace of inosite. The amount of urea present was about 3 per cent, and averaged from 28 to 30 grammes in the twenty-four hours. His pulse was small, regular and of high tension, and numbered 68 per minute; his temperature was 98.4°, and the respiration, which was fairly deep and easy, numbered 28 per minute. During the three months under observation he was placed on a mixed diet and was allowed as much fluid to drink as he wished. The quantity which he drank was carefully measured and a daily record kept. The quantity of urine passed was also carefully noted. Under treatment his general condition improved considerably. His thirst became much less, and there was also on the average a falling off in the amount of urine passed. He also gained somewhat in weight. The amount of urea present remained between 0.3 and 0.5 per cent.[sic], and occasionally the urine gave the reaction for acetone.

The following is a table showing the results of treatment:—

Duration of
in days.
of fluids
taken in
of urine
passed in
  Max.   Min.Max.   Min. 
41001-1002460   404224   178
191001-1004460   285396   184 Tonics–tincture of nux vomica.
71002-1004420   260298   208Liquid extract of ergot, increasing to 1 dr., three times a day.
61001-1004340   260329   264Liquid extract of ergot, 1 dr. four times a day.
151002-1003260   195298   178Liquor strychniæ, 3 min., tincture of perchloride of iron 15 min., three times a day.
131002-1004205   105236   149 Antipyrin, 10 gr. three times a day.
111002-1006140   105230   134Antipyrin, 15 gr. three times a day.
191002-1006105   60206   156 Compound tincture of valerian 1 dr., citrate of iron and ammonia 5 gr., three times a day.

CASE 2.—P. S—, aged nine, younger brother to Case 1, had had extreme thirst from infancy, and had always passed a large amount of watery urine. Beyond measles and whooping-cough he had had no illness. There was no history of injury in infancy and none of infantile convulsions. He had been getting weaker of late. He had no cough or expectoration, and no night sweats, dyspnœa &c. His bowels were fairly regular and his appetite good; thirst was excessive. The tongue was pale and flabby, broad and thinly furred posteriorly. His pulse was 84, small, regular and of somewhat high tension; his temperature was normal and respiration, which numbered 20 per minute, easy and of good depth. The urine was pale and watery, with a greenish tinge; its reaction was faintly acid and had a specific gravity of 1002. It contained no albumen and no sugar, but there was present a trace of inosite and also of acetone acid. The patient was pale, anæmic and listless. His skin was dry and livid, due to venous congestion; the veins were well marked all over the body; his conjunctivæ lips and gums were pale; the pupils were dilated; his fingers were livid, and his feet and hands got easily cold. The chest wall was well covered; it was somewhat barrel-shaped, and there was no depression of the supra-clavicular or infra-clavicular fossæ. The expansion of the chest walls was fair. There were no abnormal physical signs over the lungs. The cardiac apex impulse was small, and was felt half an inch inside the nipple line in the fifth space. The area of cardiac dulness [sic] was not enlarged; the sounds were free from murmur, but the second sound was accentuated both at the apex and at the base, to the right of the sternum. The liver and spleen were not enlarged. The abdominal walls were very flaccid. The bladder reached up to the umbilicus, and after micturition it was still considerably enlarged. The skin of the body and chest was very sensitive; the slightest touch anywhere caused him to shrink, as it caused a tickling sensation. The superficial reflexes were exaggerated, especially the abdominal ones. His muscular system was flabby, but fairly well developed. During the period under observation—viz., twenty-four days—the general condition remained pretty well unaltered, the patient drinking between 240 and 135 ounces of fluid, and passing between 320 and 190 ounces urine. At the same time there was a slight gain in weight.

CASE 3.—E. S—, aged seventeen; as an infant was always crying till he got something to drink. He had what his mother called "infantile fits" from infancy till he was three years of age; none since. He had had measles, whooping-cough, chicken-pox and diphtheria; otherwise he had always been well, but never strong. There was no history of injury &c. He was always a backward boy, his intellect being slow. He had a low forehead, a flushed face, and a dull heavy expression. His pupils were somewhat dilated, his lips heavy, and the lobules of the ears were large and thick. The skin was dry and coarse. His superficial reflexes were exaggerated, his movements generally delayed; his pupils responded to light and accommodation, but very slowly. He had no abnormal physical signs over the chest or abdomen; his bladder was somewhat dilated. He passed about 368 ounces of pale watery urine, which had a neutral reaction, a specific gravity of 1005, and contained no albumen or sugar, and but a trace of inosite. The amount of fluid drunk averaged about 265 ounces per twenty-four hours.

Family history.—Case 1: W. S—, aged fourteen, affected. Case 2: P. S—, aged nine, affected. Case 3: E. S—, aged seventeen, affected. One sister alive and healthy, not affected; one sister died of diphtheria, not affected. Father's family: Healthy, nothing to note. Mother's family: Mother alive, aged forty-six, slightly affected. Three brothers died of wasting, aged five years, seven months and eleven months: all had excessive thirst and passed a large amount of urine. One sister died of phthisis, aged sixteen, not affected. Two sisters alive; one suffers from heart disease and one from winter cough, not affected. Mother's mother is alive, aged seventy-four, slightly affected. One of her sisters is alive and slightly affected. Two sisters died, one of cancer of the throat and one of phthisis; neither of them affected. One brother died of cancer of the intestine, not affected. One brother is alive and is affected with extreme thirst. Neither of them had any children. Mother's grandmother died of cancer of the stomach. Mother's father died, aged seventy-two, of apoplexy. His father, two brothers and one sister died from paralysis, all over sixty years of age; none of them affected so far as known.

That diabetes insipidus is a condition which is inherited to a remarkable degree has been well shown by the cases which have been recorded by Gee and Weil, especially in the marked case of the latter observer. The present cases are also marked examples of its inheritance and what seems to be a heredity occurring chiefly in the males on the female side of the house. The similarity of the three cases is interesting. In all of them the chief symptoms of excessive thirst and the passing of an unduly large amount of urine had been present from infancy. Never in any case while under observation did the specific gravity of the urine rise higher than 1007. The amount of urine passed was always more or less in excess of the quantity of fluid taken, having been in excess as much as 76 oz. on one occasion in Case 1 and 110 oz. in Case 2. In making these observations the possibility of error was carefully guarded against. The bladder in each case was found to be enlarged, and that the capacity of it was considerable may be inferred from the fact that while in the out-patient room of the hospital Case 1 passed about two pints of urine. The retention of this amount had not caused him any inconvenience. Further, the well-marked nervous symptoms present in these cases are worthy of note. These are well exemplified in the general want of expression which was continually present in the faces of the boys; the dulness [sic] of intellect, not amounting to idiocy; thin sluggish movements, and, above all, in the greatly exaggerated superficial reflexes. That nervous symptoms had occurred in two of the cases in infancy is certain. In fact, from the circumstances mentioned, it almost seems as if the origin of the disease in these cases is to be found in some peculiarity of brain condition by which some dulling of the functions of the higher centres by which their restraining power over the lower centres has been to some extent lost or, at any rate, modified.

Children's Hospital, Paddington-green, W.

1892, October

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This translation by the NDI Foundation is to assist the lay reader. To provide a clear, accessible interpretation of the original article, we eliminated or simplified some technical detail and complicated scientific language. We concentrated our translation on those aspects of the article dealing directly with NDI. The NDI Foundation thanks the researchers for their work toward understanding and more effectively treating this disorder.
© Copyright NDI Foundation 2007 (JC)

McIlraith, writing in 1892, noted three cases, all boys, who displayed symptoms of diabetes insipidus: polyuria (chronic passage of large volumes of urine) and polydipsia (chronic, excessive thirst). He noted that the DI seemed to be inherited in these cases, passing from the mothers, who didn't seem to display severe symptoms, to their sons, who did. Other similarities shared by the three patients (two of whom were brothers) included slight mental retardation, physical sluggishness and greatly exaggerated superficial reflexes.