Neonatal Cri du chat syndrome with atypical facial appearance: A case report.

Background: Cri du chat syndrome (CdCS), also known as 5p deletion syndrome (5p-) is a syndrome caused by partial deletion of the 5p chromosome in human beings. The incidence accounts for 1/50000 and the cause of CdCS is related to partial deletion of chromosome 5 short arm (p). CdCS is a sporadic event. Only one case of CdCS was detected by chromosome screening in 125 and 170 pregnant Iranian women[1]. The most prominent clinical manifestations of CdCS are typical high-pitched cat calls, severe mental retardation or mental retardation and is most harmful to both language and growth retardation[2]. CdCS is a chromosome mutation disease which occurs during embryonic development and the symptoms of some cases are extremely atypical. It is difficult to make an early diagnosis and screening in clinic. We can suspect the disease from its atypical manifestations in the weak crying of cats, and chromosome karyotype analysis can find some questionable gene deletion fragments to assist the clinical diagnosis and prognosis of CdCS.

Case Summary: A 2-d-old male child who was admitted to our hospital with a poor postnatal reaction and poor milk intake. The baby's crying and sucking is weak, reaction and feeding time is poor and the baby has nausea and vomiting. Karyotype analysis showed that the chromosomes were 46, XY, deletion (5) p15. Whole genome microarray analysis (named ISCN2013) showed that the chromosomes of the child were male karyotypes and contained three chromosomal abnormalities. Among them, loss of 5p15.2pter (113576-13464559) was associated with cat call syndrome. After 3 mo of follow-up, the child still vomited repeatedly, had poor milk intake, did not return to normal growth, had developmental retardation and a poor directional response.

Conclusion: Therefore, when cat crying and laryngeal sounds occur in the neonatal period, it should be considered that they are related to CdCS. Chromosome karyotype and genome analysis are helpful for the diagnosis of CdCS.