Cri du Chat Syndrome: Case Report

Background: Cri du Chat or cat cry syndrome is a rare disorder resulting from a deletion, of variable size, on the short arm of chromosome 5 (5p-). The incidence is estimated between 1:15.000 and 1:50.000 live-born infants. Literature data report 10% of mortality, 75% of which occurs within the first year. The most important clinical features are the high-pitched cat-like cry early on life (apparently related to vocal cord abnormalities) as well as low birth weight, microcephaly, round face, broad nasal bridge, epicanthal folds, micrognathia and psychomotor delay and intellectual disability. Moreover, other malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities. With advancing age, the clinical manifestations could become less striking, making diagnosis more difficult.

Clinical Case: A female infant, of 8 months, institutionalized, with unknown parents, present from the birth high-pitched cat-like cry, broad nasal bridge, and microcephaly, being followed in consults of neonatology. According to clinical records, it was a single term pregnancy, with normal evolution and eutotic delivery with Apgar Index 9/10. Given the suspicion of Cri du chat syndrome, a genetic study (FISH) was done that was negative for 5p. Then, the chromosomal array study (aCGH) was performed, which revealed deletion in the terminal region 5p, confirming the possibility of the etiology of the patient`s phenotype.

Conclusion: Although there is no specific therapy for this syndrome, this case highlights the importance of timely diagnosis for effective educational and rehabilitation interventions, encouraging the performance of the genetic study, namely the chromosomal array study. Moreover demonstrates that make a diagnosis for a genetic or rare disease can often be challenging and thus the valuation of the clinical findings is very important.