McDonald, R.

Weinkove, C.

English

AJOL - African Journals Online

218 S.A. TYDSKRIF VIR GENEESKUNDE 22 Februarie 1969THE CAT-CRY SYNDROME*C. WEINKOVE, B.Se., M.B., CH.B., P. M. WEBB, B.Se., M.B., CH.B. AND R. McDoNALD, M.A., M.D., D.C.H.,Department of Child Health, University of Cape Town and Red Cross War MemorialChildren's Hospital, Cape TownThis syndrome was first described by Lejeune et al.' in1963 and was given the name of Maladie du cri du chat.Since then there have been a number of other reports ofthe condition, which have been well summarized in anarticle by Kajii et af.' in which the chief clinical featuresin 12 reported cases, as well as one of their own, are setout.The characteristic features are the abnormal cry, likenedto the mewing of a cat, and a persistent failure to thrive.The diagnosis is confirmed by chromosome studies whichshow deletion of the short arm of the fourth or fifthchromosome.Other findings' may be low birthweight, an antimongo-loid slant of the eyes, epicanthic folds, hypertelorism,strabismus and optic atrophy. The head may be micro- orbrachycephalic with 'mooning' of the face, low-set ears,micro- or retrognathia and a short neck. Additionalfeatures described are congenital heart disease, hypo-tonia and abnormal dermatoglyphics.We report a case of this syndrome-as far as we areaware for the first time in this country-partly because ofits comparative rarity and also because the baby was ex-tensively investigated for his failure to thrive. All thisturned out to have been quite unnecessary, as once thediagnosis of cri du chat was thought of, an adequate ex-planation of the infant's physical abnormalities wasavailable.CASE REPORTP.J., a Coloured male infant of 5 months, was admittedon 25 February 1967 after failure to respond to outpatienttreatment for severe gastro-enteritis. He had been de-livered by caesarean section following a severe antepartumhaemorrhage. Birthweight was 5 lb. The mother claimedthat despite an adequate diet he had never thrived, and atthe age of 3 months he weighed only 6t lb.Examination showed a marasmic (6 lb.), dehydratedinfant with a small head, the circumference measuring13t inches. He had bilateral inguinal hernias, a 2-fingerenlargement of the liver and asystolic broit at the leftsternal border. He was also noticed to have epicanthicfolds, a receding jaw and a 'mewing' cry. The nursingstaff called him 'the cat'.There was consolidation of the right upper lobe on thechest X-ray film, and an intravenous pyelogram indicatedincomplete rotation of the left kidney. An air encephalo-gram suggested bilateral cortical atrophy, especially on theleft (Fig. 1).Chromosomal AnalysisThis was performed on peripheral blood lymphocytesusing a modification of the technique of Moorhead et at:The nodal number was 46 and the sex chromosomal com-plement XY. Eleven karyotypes were studied and in all of*Date received: 11 April 1968.them the short arm of the B group showed partial deletion.The quality of the preparation, however, made it difficultto decide whether the deleted chromosome was number 4or 5.Fig. 1. Air encephalogram showing cortical atrophy.22 February 1969 S.P.. MEDICAL JOURNAL 219The baby remained for a long time in hospital, requiringfrequent intravenous infusions of electrolytes as well asplasma and blood. Correction of metabolic acidosis withI·11Fig. 2. P.J., aged 18 months. Note 'mooning' of face, .epi-canthic folds, hypertelorism and underdeveloped mandible.sodium bicarbonate was required on several occa ions.Despite penicillin and sulphadiazine the radiological signsof consolidation persisted, while the diarrhoea remainedtroublesome, resisting alterations in the diet, such as theremoval of lactose. Ultimately the loose stools came undercontrol, there was some gain in weight and the child wasdischarged from hospital nearly 4 months after his ad-mission.He was seen again at the age of 18 months. His face hadbecome rounded but he could not sit, or even hold up hishead. He was obviously severely retarded mentally. Thecat-like cry was still present. Photographs taken at thi~time show the typical facies of the syndrome (Fig. 2). Theopportunity was taken to do a laryngoscopy, and a smalllarynx, with some sucking in of the epiglottic structuresduring forced inspiration, was reported. These findingswere not regarded as significant.DISCUSSIONOur patient appears to be a typical example of the 'cat-cry'syndrome. He has the characteristic cry, with failure tothrive and abnormality of chromosomes as well as someof the clinical features described by others, such as micro-cephaly, epicanthic folds, moon facies and receding jaw.The importance of the condition, although rare, is that itcan be diagnosed soon after birth. This will save manyunnecessary investigations such as were carried out onthis patient before the correct diagnosis was suggested.The abnormal cry of these infants has been studied byVuorenkoski et al.' in 8 affected children. They showedthat the cry, as analysed by the sound spectograph, istypical and specific for the syndrome, and quite differentfrom the cry of normal children. Interestingly enough.there were close similarities between the cri du chatsignals and the cries of young cats. Thus the title given toothis curious syndrome is scientifically justifiable.The anatomical basis for the abnormal cry has not beenestablished. MacIntyre et al: recorded the following ab-normalities in some of the reported cases: laryngomalacia,an abnormally small larynx and a small epiglottis. Not allof these were present in the same child, and in some noabnormality was detected. In our patient there was nogross laryngeal- disorder present.Hobolth and Mikkelsen6 quoted the oldest living childwith the condition as being 13 years. Prognosis, not onlyfor mental development, but even for survival, is poor.Our patient exhibits considerable mental and physical re-tardation. The additional findings of cortical atrophy,inguinal hernia and an abnormal pyelogram mayor maynot be related to the syndrome. They are not mentionedin the literature reviewed, but as more cases are publishedmore abnormalities may well come to light. The chromo-somal aberration may be due to translocation in one of theparents." This aspect could not be pursued in our case asthe father of the child is not living.SUMMARYAn infant with the cat-cry syndrome is reported, showing theclassical features of a cat-like cry, failure to thrive and deletionof the short arm of the B group of chromosomes. Some of theother described abnormalities were also present as well asothers not previously mentioned; it is not certain whether theseare of significance or not.220 S.A. TYDSKRIF VIR GENEESKUNDE 22 Februarie 1969Awareness of the condition should prevent unnecessary andextensive investigations, as the abnormality is readily detectableand the diagnosis can be confirmed by chromosomal studies.We wish to thank Prof. J. Kench and the Department ofChemical Pathology for the urinary amino-acid analysis; DrJ. L. Marais for the laryngoscopic examination; and Dr J. F.W. Mostert, Medical Superintendent of the Red Cross WarMemorial Children's Hospital, for permission to publish thisreport.REFERENCESI. Lejeune, J., Lafourcade, J., Berger, R., Vialatte, J., Boeswillwald, M.,Seringe, P. and Turpin, R. (1963): C.R. Acad. Sei. (Paris), 257, 3098.2. Kajii, T., Homma, T., Oikawa, K., Furuyama, M. and Kawarazaki, T.(1966): Arch. Dis. Cbildh., 41, 97.3. Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M. andHungerford, D. A. (1960): Exp. Cell Res., 20, 613.4. Vuorenkoski, V., Lind, J., Partanen, T. J., Lejeune, J., Lafourcade, J.and Wasz-HOckert, O. (1966): Ann. Paediat. Fenn., 12, 174.5. MacIntyre, M N., Staples, W. I., La Polla, J. and Hempel, J. M.(1964): Amer. J. Dis. Child., 108, 538.6. HObolth, N. and Mikkelsen, M. (1965): Acta obstet. gynec. scand.,44, 572.MEDICAL ASSOCIATION OFSOUTH AFRICAMEDIESE VERENIGING VANSUID-AFRIKAREPORT OF THE CHAIRMAN OF FEDERAL COUNCIL FOR THE YEAR ENDED 31 DECEMBER 1968Obituary. It is with regret that the passing of 37 members ofthe Association during 1968 has to be recorded as follows:Drs S. W. Adler, E. L. Batchelor, A. Bloom, T. J. Bouma,C. W. L. Crawford, H. S. Cohen, T. Edmunds, I. Effren,A. Greenblatt, H. M. Jamieson, D. N. Kahn, R. Katz, P. W. J.Keet, J. A. H. P. S. Kieser jnr, J. B. Lewis, J. von L. Malan,J. A. S. Marr, A. Meyer, M. S. Miller, W. H. Muller, S. W.Nolte, F. W. F. Purcell, J. D. Rear, H. G. Rees, C. D. Roberts,S. Sieff, D. B. Spiro, H. D. Stirton, A. E. Strawbaun, H. Taylor,R. Theron, G. T. van der Vijver, J. J. van Niekerk snr, P. R.van Schoor, J. P. van Wyk, J. Wolfowitz.Membership. Although we have had to acknowledge withregret the loss of 37 members through death, our over-allmembership has increased by 322. The present state of theBranches is as follows: Border Coastal 157, Border Inland 59,Cape Eastern 43, Cape Midland 289, Cape Western 1,551,Eastern Transvaal 337, Griqualand West 99, Natal Coastal678, Natal Inland 255, Northern Transvaal 708, Orange FreeState 293, OFS Goldfields 82, Southern Transvaal 1,346, SouthWest Africa 102, Soutpansberg 98, Transkei 85, Vaal River 93,Western Transvaal 156, unattached 258; Total 6,689. In addi-tion there are 6 Honorary Members, who are not medicalpractitioners.The number of members who had not paid their subscrip-tions by the end of the financial year was 65, and these havenot been included in the figures set out above. As the totalnumber of practitioners on the medical register as at 30 June1968 was 9,823 plus 503 interns, it will be seen that there arestill many doctors who do not belong to their own professional-organization-and who should join.Honours. At its meeting in Pietermaritzburg in July 1968, theFederal Council awarded the Association's Gold Medal to Mr"B. A. Armitage, the President, for distinguished service to themedical profession, and to Prof. Christiaan Barnard for his-outstanding contribution to the advancement of the science ofcurative medicine. Additionally it was resolved to present toProfessor Bamard's team a facsimile in gold of the Associa-tion's Silver Medal for distinguished service to medical researchand humanity.The Association's Bronze Medal was awarded to Mr N.Kretzmar, of Kimberley, and Dr S. Spiro, of Roodepoort.Dr A. B. Taylor, of Durban, and Dr P. Jabkovitz, of PortElizabeth, were elected to Emeritus Membership of theAssociation.Annual General Meeting. The Annual General Meeting of·the Association for the year 1968 was held in Pietermaritzbutg.on 17 July. At the conclusion of the formal business, Mr B. A.Armitage was inducted as President. In the absence overseasof the retiring President, Dr N. R. Pooler, of Durban, theinstallation was carried out by Mr F. H. Counihan, the mostrecent ex-President present. The Adjourned Annual GeneralMeeting was held in the Pietermaritzburg City Hall thatevening, at which Mr Armitage delivered his PresidentialAddress. A mayoral reception followed.Council Meetings. The Federal Council met on 3 occasionsduring the year. A special meeting was held in Pretoria on8 - 9 March, the ordinary meeting was held in Pietermaritzburgon 17 - 19 July, and a further special meeting was held inPretoria on 16 November. In addition to the normal businessof the Association, attention was focused on the MedicalSchemes Act. The Council has been much concerned with thediscontent that was aroused in the profession as a result ofcertain clauses of the Act to which strong exception was taken.As a result of pressure from the members, the Executive Com-mittee of the Council was faced with the position that therewas no alternative but to recommend to the dissatisfiedmembers that they exercise their right to contract out of theTariff of Fees as a protest. The fact that so many did so,shows the measure of the discontent in the profession. Politicalchange made it possible for the whole situation to be reviewedand reconsidered, and it is confidently hoped that amendinglegislation in 1969 will bring about the desired cooperationbetween the medical profession and the medical aid schemes.We have valued t~is. friendly spirit in the past and we IFokforward greatly to It m the future. • '.Another matter which has been of great concern to theCouncil is the growing discontent among doctors in the full-time employ of the State, the Provincial Administrations andthe Local Authorities which rely on State aid. This dissatisfac-tion stems from the inadequacy of the salaries they are paid,compared with the emoluments of their colleagues in privatepractice and those in the fulltime employ of commercial andindustrial organizations. The resultant shortage of staff hasnot made the situation any easier. Various suggestions for theirrelief have been suggested, and although the Cape ProvincialAdministration has adopted the service/merit award systemfor certain doctors employed in teaching hospitals, the positiongenerally continues to be unsatisfactory. It is apparent that theAssociation will have to bring negotiations to a successfulconclusion if the hospital and other services are not to suffer.Naturally, much of the work of the Federal Council has hadto be undertaken by the Executive Committee, and the office-bearers have had a strenuous year. The Committee has meton 5 occasions-16 - 17 February, 17 -18 May, 16 July, 20~ 21

The cat-cry syndrome

https://www.ajol.info/index.php/samj/article/download/186081/175370

The cat-cry syndrome

Abstract

Similar works

Full text

Available Versions

AJOL - African Journals Online