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Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1972 Oct;35(5):711–719. doi: 10.1136/jnnp.35.5.711

Neurological abnormalities in the `cri-du-chat' syndrome 1

Jack Colover 1,2, Mary Lucas 1,2, J A Comley 1,2,2, A M Roe 1,2,2
PMCID: PMC494155  PMID: 5084140

Abstract

An unusual case of the cri-du-chat syndrome is described in a 6½ year old boy, who, as well as attacks of stridor and choking, showed disorders of spatial perception and cerebellar signs in the form of nystagmus, clumsiness of the hands, and ataxia. Pyramidal signs were also present. He was only mildly retarded mentally. Psychological testing showed that he had a severe deficit for number processing, and also constructional apraxia. Surprisingly, his vocabulary was quite good, as was his reading capacity. Chromosome analysis showed a very small deletion of the short arm of the group B chromosome. In infancy this diagnosis may be suspected because of the high-pitched cry and attacks of stridor and choking. In late childhood, when the signs may be only of a neurological disorder, its recognition may be difficult without confirmation from chromosome studies. The neurological features of this disease are reviewed.

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Selected References

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  1. BERGMAN S., FLODSTROM I., ANSEHN S. "CRI DU CHAT". Lancet. 1965 Apr 3;1(7388):768–769. doi: 10.1016/s0140-6736(65)92135-5. [DOI] [PubMed] [Google Scholar]
  2. Berg J. M., Delhanty J. D., Faunch J. A., Ridler M. A. Partial deletion of short arm of a chromosome of the 4-5 group (Denver) in an adult male. J Ment Defic Res. 1965 Dec;9(4):219–228. doi: 10.1111/j.1365-2788.1965.tb00840.x. [DOI] [PubMed] [Google Scholar]
  3. CAVALIERI S., MASTELLA G., TIEPOLO L. LA SINDROME DELLA VOCE DA GATTO. Fracastoro. 1964 Nov-Dec;57:369–381. [PubMed] [Google Scholar]
  4. DE GROUCHY J., ARTHUIS M., SALMON C., LAMY M., THIEFFRY S. LE SYNDROME DU CRI DU CHAT: UNE NOUVELLE OBSERVATION. Ann Genet. 1964;7:13–16. [PubMed] [Google Scholar]
  5. DUMARS K. W., Jr, GASKILL C., KITZMILLER N. LE CRI DU CHAT (CRYING CAT) SYNDROME. Am J Dis Child. 1964 Nov;108:533–537. doi: 10.1001/archpedi.1964.02090010535013. [DOI] [PubMed] [Google Scholar]
  6. DYGGVE H. V., MIKKELSEN M. PARTIAL DELETION OF THE SHORT ARMS OF A CHROMOSOME OF THE 4-5 GROUP (DENVER). Arch Dis Child. 1965 Feb;40:82–85. doi: 10.1136/adc.40.209.82. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. De Capoa A., Warburton D., Breg W. R., Miller D. A., Miller O. J. Translocation heterozygosis: a cause of five cases of the cri du chat syndrome and two cases with a duplication of chromosome number five in three families. Am J Hum Genet. 1967 Jul;19(4):586–603. [PMC free article] [PubMed] [Google Scholar]
  8. Hirschhorn K., Cooper H. L., Firschein I. L. Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik. 1965;1(5):479–482. doi: 10.1007/BF00279124. [DOI] [PubMed] [Google Scholar]
  9. LEJEUNE J., GAUTIER M., LAFOURCADE J., BERGER R., TURPIN R. D'EL'ETION PARTIELLE DU BRAS COURT DU CHROMOSOME 5: CINQUI'EME CAS DE SYNDROME DU CRI DU CHAT. Ann Genet. 1964;7:7–10. [PubMed] [Google Scholar]
  10. LEJEUNE J., LAFOURCADE J., BERGER R., VIALATTE J., BOESWILLWALD M., SERINGE P., TURPIN R. TROIS CAS DE D'EL'ETION PARTIELLE DU BRAS COURT D'UN CHROMOSOME 5. C R Hebd Seances Acad Sci. 1963 Nov 18;257:3098–3102. [PubMed] [Google Scholar]
  11. LEJEUNE J., LAFOURCADE J., DE GROUCHY J., BERGER R., GAUTIER M., SALMON C., TURPIN R. D'EL'ETION PARTIELLE DU BRAS COURT DU CHROMOSOME 5. INDIVIDUALISATION D'UNE NOUVEL 'ETAT MORBIDE. Sem Hop. 1964 Apr 14;40:1069–1079. [PubMed] [Google Scholar]
  12. Laurent C., Robert J. M. Etude génétique et clinique d'une famille de sept enfants dans laquelle trois sujets sont atteints de la "maladie du cri du chat". Ann Genet. 1966 Sep;9(3):113–122. [PubMed] [Google Scholar]
  13. Lejeune J., Lafourcade J., Berger R., Rethoré M. O. Maladie du cri du chat et sa réciproque. Ann Genet. 1965;8(1):11–15. [PubMed] [Google Scholar]
  14. MACLAURIN B. P. ROSETTE FORMATION IN LYMPHOCYTE CULTURES. Lancet. 1965 Jun 12;1(7398):1278–1278. doi: 10.1016/s0140-6736(65)91936-7. [DOI] [PubMed] [Google Scholar]
  15. MCCRACKEN J. S., GORDON R. R. "CRI DU CHAT" SYNDROME. A NEW CLINICAL AND CYTOGENETIC ENTITY. Lancet. 1965 Jan 2;1(7375):23–25. doi: 10.1016/s0140-6736(65)90926-8. [DOI] [PubMed] [Google Scholar]
  16. McGavin D. D., Cant J. S., Ferguson-Smith M. A., Ellis P. M. The cri-du-chat syndrome with an apparently normal karyotype. Lancet. 1967 Aug 12;2(7511):326–330. doi: 10.1016/s0140-6736(67)90170-5. [DOI] [PubMed] [Google Scholar]
  17. Miller O. J., Breg W. R., Warburton D., Miller D. A., Firschein I. L., Hirschhorn K. Alternative DNA replication patterns associated with long arm length of chromosomes 4 and 5 in the cri du chat syndrome. Cytogenetics. 1966;5(3):137–151. doi: 10.1159/000129893. [DOI] [PubMed] [Google Scholar]
  18. Milunsky A., Chitham R. G. The Cri du Chat syndrome. J Ment Defic Res. 1966 Jun;10(2):153–157. doi: 10.1111/j.1365-2788.1966.tb00182.x. [DOI] [PubMed] [Google Scholar]
  19. PUNNETT H. H., CARPENTER G. G., DIGEORGE A. M. DELETION OF SHORT ARM OF CHROMOSOME 5. Lancet. 1964 Sep 12;2(7359):588–588. doi: 10.1016/s0140-6736(64)90656-7. [DOI] [PubMed] [Google Scholar]
  20. Polani P. E. Autosomal imbalance and its syndromes, excluding down's. Br Med Bull. 1969 Jan;25(1):81–93. doi: 10.1093/oxfordjournals.bmb.a070675. [DOI] [PubMed] [Google Scholar]
  21. Rohde R. A., Tompkins R. "Cri du Chat" due to a ring-B chromosome. Lancet. 1965 Nov 20;2(7421):1075–1076. doi: 10.1016/s0140-6736(65)90609-4. [DOI] [PubMed] [Google Scholar]
  22. Solitare G. B. The cri du chat syndrome: neuropathologic observations. J Ment Defic Res. 1967 Dec;11(4):267–277. doi: 10.1111/j.1365-2788.1967.tb00230.x. [DOI] [PubMed] [Google Scholar]
  23. Taylor A. I., Challacombe D. N., Howlett R. M. Short-arm deletion, chromosome 4, (4p-), a syndrome? Ann Hum Genet. 1970 Oct;34(2):137–144. doi: 10.1111/j.1469-1809.1970.tb00227.x. [DOI] [PubMed] [Google Scholar]
  24. Turner J. H., Bass L. W., Kaplan S. Chromosome mosaicism in a child with features characteristic of the 'Cat Cry' syndrome. J Med Genet. 1966 Mar;3(1):66–69. doi: 10.1136/jmg.3.1.66. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Wolf U., Reinwein H., Porsch R., Schröter R., Baitsch H. Defizienz an den kuzen Armen eins Chromosoms Nr. 4. Humangenetik. 1965;1(5):397–413. [PubMed] [Google Scholar]

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