983

SERUM-BILIRUBIN BEFORE AND AFTER EXCHANGE TRANSFUSION

transfusion) the patient complained from time to time ofabdominal pain, was reluctant to take food, vomited 2 or 3times a day, and remained deeply jaundiced (see accompanyingtable). On her 8th day in hospital erythema of palms wasfirst noticed and a spider naevus appeared on the right arm.By this time her liver was getting smaller. The following daybruising was first noticed, associated with a low prothrombinlevel.

During the first week in the ward the patient’s mental statevaried greatly. Alertness and lucidity fluctuated withdrowsiness and confusion. At times she would be restless,disorientated, and talk irrationally. Between the 7th and 10thdays in hospital her mental state deteriorated further. Formost of the time she was restless, confused, inaccessible, andhallucinated. Insomnia became troublesome. On the 9th daya low-protein diet was introduced, and neomycin (2 g. daily)and prednisone (40 mg. daily) were commenced.On the 10th day in hospital the patient became comatose,

although at times she would respond to painful stimuli. Shestarted to have violent attacks of screaming which could beheard around the hospital and for some distance outside. Theclinical picture, by now, was of acute mania. She developedfoetor hepatis and her shrinking liver was difficult to palpate.At this juncture her total serum-bilirubin concentration was39-5 mg. per 100 ml., and the free pigment had risen rapidlyfrom 8 to 24-5 mg. per 100 ml. in 48 hours (see table), associatedwith a reticulocytosis of 5-5% and a falling hxmoglobin-suggesting the development of a mild hsemolytic stated 1

Reticulocytosis persisted and reached a value of 7-5% 31/2weeks after admission.On the llth day in hospital, because of the patient’s des-

perate plight and the high level of free bilirubin, an exchangetransfusion was carried out through the right femoral vein;in all 2050 ml. of blood was removed and 2040 ml. of freshblood was injected, the whole procedure taking 3 hours. Atthe end of the transfusion the serum-bilirubin level was6-4 mg. per 100 ml. (free pigment 0-3 mg. per 100 ml.).During the next 9 days her serum-bilirubin rose to a level of20-5 mg. per 100 ml. (free pigment 5 mg. per 100 ml.), butthereafter steadily declined.

After the exchange transfusion the child’s mental state

improved dramatically. She became lucid and cooperativeand remained so thereafter. Her abdominal pain recededrapidly. She now showed tremor of the hands, usually fine butat times coarse, which was associated with titubation of thehead. These abnormal movements persisted for 3 weeks andthen disappeared. In the week after the exchange transfusionshe developed increasing generalised oedema and ascites whichwas attributed to hypoalbuminsemia (plasma-albumin was2-3 g. per 100 ml. 2 weeks after admission), and also to thepossible development of portal hypertension. Her severe

fluid retention responded well to two 5-day courses ofdiuretics (chlorothiazide and spironolactone).Glycosuria was noticed 48 hours after the exchange trans-

fusion and persisted for 3 weeks (1-2% each day by‘Clinitest’), associated on one occasion with hyperglycaemia(blood-glucose 320 mg. per 100 ml.). At this time she wasreceiving a liberal glucose intake, and her mellituria was

1. Conrad, M. E., Schwartz, F. D. Am. J. Med. 1964, 37, 789.

thought to reflect impaired ability on the part of the liver tometabolise this and other carbohydrates.As soon as her oedema and ascites cleared the child’s progress

to recovery was rapid and uneventful. Her various drugs wereslowly withdrawn. She was discharged fit on Sept. 18, 1964(i.e., 7 weeks after her admission), on a small dose of prednisonewhich was discontinued a few days later.

Subsequent ProgressThe child has enjoyed perfect health over the past 20 months.

She has had no hsematemeses, and her nutrition has beensatisfactory. Her liver has been normal in size and texture, andher spleen impalpable. There has been no clinical evidence ofportal obstruction. Investigations in April, 1966, have shown:Hb 86%; normal white blood-cell count; E.S.R. 5 mm. in lsthour; and liver function tests: serum-bilirubin, 0-4 mg. per100 ml.; serum-proteins (per 100 ml.), 6-8 g. (albumin 5-2 g.,globulin 1-6 g.); thymol turbidity, 2 units; thymol flocculation,+ : and zinc sulohate. 3 units.

TREVOR P. MANN.Royal Alexander Hospital for Sick Children,Brighton 1, Sussex.

EXCHANGE-TRANSFUSION APPARATUS

J. M. IBRAHIM.Queen Elizabeth Hospital for Children,

London E.2.

SiR,ńThe mounting of the disposable exchange-transfusionapparatus 1 on a base plate as described by Dr. Simmons andDr. Ata (April 2) does not, in my opinion, eliminate thedifficulties encountered in the procedure. In addition to the

disadvantages, which they rightly mentioned, of the disposableset (sticking of the syringe and flexibility of the two-way tapswhen joined together) I found that the handles of the tapsoften snapped half-way through the operation, necessitatingon occasions replacing the set.

I find it easier to use a transfusion set with a graduated chamberintercepting the flow of blood from the reservoir to an ordinarytwo-way tap, one end of which is attached to the umbilical-vein catheter and the other to a 20 ml. syringe. The disposablerecipient set for infants, made by Capon Heaton & Co. Ltd.,is very suitable. After a measured amount of the donor blood

goes in, the tap is turned to connect the syringe with theumbilical catheter for withdrawal, automatically cutting off theflow of the donor blood, and giving time for an assistant torefill the chamber.

Besides its cheapness, ever-availability, and simplicity, theadvantages of this apparatus are: (a) the syringe only withdrawsblood from the patient, and hence the danger of infection islessened; (b) blood is transfused into the baby by the force ofgravity and the speed of transfusion can be easily regulated;and (c) the dead space is negligible and not more than thevolume of the umbilical catheter. The only disadvantage-that of having to disengage the syringe after every withdrawal-can be obviated by inserting a second tap, leading to waste,between the first one and the syringe.

CAUSES OF STOKES-ADAMS ATTACKS

SIR,-A female patient, aged 72 years, with complete heart-block, and Stokes-Adams attacks due to episodes of ventricularfibrillation, was treated by external pacemaking for 2 days. Thispacemaking, which was strong enough to evoke electrocardio-graphic complexes but not mechanical ventricular contractionssufficient to produce clinically detectable pulse-volume, wasable to prevent attacks of ventricular fibrillation for many hours.On several occasions within a few minutes of stopping externalpacemaking ventricular fibrillation recurred; the patient couldnot be resuscitated from the last of these episodes.Many of the attacks of ventricular fibrillation had no pre-

ceding period of ventricular asystole. This suggested that, ina patient with heart-block who is not on any drug therapy,ventricular fibrillation is not necessarily a result or complica-tion of ventricular asystole. Similar mechanisms may be

1. Prosser, R. Lancet, 1963, ii, 337.

984

responsible for both causes of Stokes-Adams attacks-i.e.,ventricular asystole and fibrillation-under these circum-stances. The fact that external pacemaking could preventventricular fibrillation with no preceding asystole could thushave interesting applications in other fields of cardiac arrest.

A. R. SHAH.

Cardiac Department,Kingston General Hospital,

Hull.

YY CHROMOSOMES AND KLINEFELTER’SSYNDROME

SIR,-In view of your leading article (March 12) I give herethe comparisons of measurements of chromatin-positive menfrom a buccal-mucosal-smear survey of all patients in hospitalsfor the subnormal in the Sheffield Regional Hospital Board(S.R.H.B.) area. Control patients were a total ward population ofsuitable patients of similar i.Q. at this hospital.The number of cases of Klinefelter’s syndrome found in the

survey was 17 (13 XXY, 3 XXYY, and 1 XXXY). For statisticalcomparison other cases of this syndrome with subnormalintellect were collected from the published reports. The totalmaterial considered was as follows:

Height comparisons between genotypes of similar X-chromo-some complement but differing and increasing Y chromosomesshowed significant differences: that between XY and XYY gavet=2’74, D.F. =35, P < 0.01, and that between XXY and XXYYgave t=2’94, D.F.=49, p< 0-001. Height comparisonsbetween genotypes with constant Y chromosome complementand differing X chromosomes (i.e., between XY and XXY,and between XYY and XXYY) showed differences that werenot significant.

Other biometric differences were detected between geno-types XY, XXY, and XXYY. Between XY and XXY the only

significant difference was that the sole-pubis measurement wasincreased. Between XY and XXYY, height, leg length, span,and weight were all significantly increased. The diminished

span-minus-height difference described by Stewart et al.13

appeared to be more closely related to XXYY than to XXYgenotypes.More important to the present discussion are the differences

between XXY and XXYY which reached significant levels inheight, leg length, and weight. These results were as follows:

The finding of such a high incidence of YY cases in special1. Court Brown, W. M., Harnden, D. G., Jacobs, P. A., Maclean, N.,

Mantle, D. J. Spec. Rep. Ser. med. Res. Coun. 1964, no. 305.2. De le Chapelle, A. J. ment. Defic. Res. 1963, 7, 49.3. Carr, D. H., Barr, M. L., Plunkett, E. R. Can. med. Ass. J. 1961, 84,

873.4. Ellis, J. R., Miller, O. J., Penrose, L. S., Scott, G. E. B. Ann. hum.

Genet. 1961, 25, 145.5. Vague, J., Simonin, R., Stahl, A., Muller, M., Payan, H., Fenasse, R.

Annis Endocr. 1964, 22, 6, 988.6. Laurence, K. M., Ishmael, J., Davies, T. S. Cytogenetics, 1963, 2, 50.7. Tabata, T., Federoff, S., Gerrard, J. W. Can. med. J. 1964, 90, 590.8. Barr, M. L., Carr, D. H., Soltan, H. C., Weins, R., Plunkett, E. R. ibid.

1964, 90, 575.9. Casey, M. Personal communication.

10. Bray, P., Josephine, A. J. Am. med. Ass. 1963, 184, 179.11. Sandberg, A. A., Koepf, G. F., Ishihara, T., Hauschka, T. S. Lancet,

1961, ii, 488.12. Buckton, K. E., Bond, J. A., McBride, J. A. Hum. Chromos. Newsl.

1962, 8, 11.13. Stewart, J. S. S., Mack, W. S., Govan, A. D. T., Ferguson-Smith, M. A.,

Lennox, B. Q. Jl Med. 1959, 28, 112, 561.

hospitals suggested that delinquency could be characteristicof the Y chromosome alone. When the histories of the menwith Klinefelter’s syndrome in the S.R.H.B. survey were

compared with those of the total male population of thishospital, 11 (64-7%) of the 17 chromatin-positive men showedantisocial behaviour abnormalities, compared to 35 (19-5%) ofthe 177 hospital males. The types of offences committed couldbe divided into three main categories: sexual, aggressive, andlarcenous acts. The hospital population showed a preponder-ance of sexual and larcenous acts while aggressive acts occurredin only 6 cases (17%). In the chromatin-positive group, 5(45-5%) of 11 acts were aggressive. These figures show anincrease in behaviour abnormalities most marked by aggressive-type behaviour in the group with Klinefelter’s syndrome.

Detailed clinical assessments derived from clinical histories,families, nursing officers, and clinical interviews showed noobvious differences in personality profiles between XXY andXXYY genotypes. Price et al.14 report no difference in criminalrecords between XYY and other patients at their hospital,whose population would include XY, XXY, and XXYYgenotypes.Any " standard " human chromosome aneuploidy appears

to alter the whole organism to a greater or lesser extent. Inpatients with Klinefelter’s syndrome (XXY, XXYY, &c.) one

of the effects is a predisposition to abnormal social behaviour,As regards XYY (and XXYY) males, even if their behaviourwas no more aggressive than XXY males, it might be thatbecause of their great height and build they would presentsuch a frightening picture that the court and psychiatristswould be biased to direct them to special hospitals for com-munity safety. The bias might be further aggravated by theassociated intellectual subnormality. This factor may find

expression in the raised incidence of XYY (and XXYY)males in special-hospital groups.

This work was done with a research grant from the SheffieldRegional Hospital Board.

H. HUNTER.

Balderton Hospital,Newark

Nottinghamshire.

KLINEFELTER’S SYNDROME AND ACUTE

INTERMITTENT PORPHYRIA

JOHANNES NIELSEN.

Cytogenetic Laboratory,Institute of Psychiatry,&Aring;rhus State Hospital,Risskov, Denmark.

SIR,-Hambert and Wetterberg 15 presented a case ofKlinefelter’s syndrome with acute intermittent porphyria, andestimated the probability of random coincidence of these tworare disorders to be less than 1/6,000,000 for males.

I wish to report another case with the combination ofKlinefelter’s syndrome and acute intermittent porphyria foundamong 25 patients with karyotypes XXY and XY/XXY. Thefinding of two patients with Klinefelter’s syndrome as well asacute intermittent porphyria in Sweden and Denmark amonga male population of about 6,000,000 indicates that the com-bination of the two disorders might not be pure coincidence,but further reports of such combinations are needed before anyconclusion can be drawn on a correlation between the twodisorders.

THE YY SYNDROME

SIR,-We have recently examined, at a nearby mentalhospital, a 47-year-old man diagnosed as an aggressive psycho-path. He was the last of 16 children born to a mother of about50 years and a father of 53. He had shown homosexual tenden-cies since school-age, and had made aggressive attacks (? sincepuberty), although these had not been only in connection withhomosexual interests. His stature is 184-2 cm. (72.6 in.) andwi-icrht Sf)’1 1 kcr (176.6 lh_1_ and o-f"nit::l1i::l and sexual hair

14. Price, W. H., Strong, J. A., Whatmore, P. B., McClemont, W. F.Lancet, 1966, i, 565.

15. Hambert, G., Wetterberg, L. Lancet, 1964, ii, 419.