Case of Cri du Chat syndrome in Lithuanian health science university hospital

Abstract

Cri du Chat Syndrome (CdCS) or “cat-cry syndrome” is a rare genetic disorders resulting from a deletion of the short arm of chromosome 5 (5p-). Characteristic clinical manifestations of this syndrome are cat-like high-pitched cries, distinct facial dysmorphism, microcephaly and severe psychomotor and mental retardation. The size of the deletion ranges from the entire short arm to solely 5p15 and all include the CTNND2 gene. The prevalence is approximately 1 in 15,000 - 50,000 newborns and with females to male ratio of 4 : 3. We report pacient, that was born at term (gestation age: 37 weeks) and was the first child of healthy, and unrelated parents. The family history was unremarkable. During pregnancy was diagnosed fetus hypotrophy and metabolic acidosis. After delivery, dextroposition of the aorta and a large subaortic ASD and VSD was detected by cardioechoscopy. When she was 6 months old, she had a heart defect corrective surgery and implanted cardiostimulators by reason of atrioventricular block. A girl was admitted for psychomotor retardation, also unable to sit and stand, incapable to chew and talk. Evident phenotypic changes: microcephaly, bilateral epicanthus, eye corners laterally slit down, long filter, triangle cranny mouth, narrow lips, high palate, micrognathia, hair on the neck, narrow feet and muscular hypotonia. Cytogenetic analysis (FISH) revealed karyotype 46, XX, del (5) (p15) confirming diagnosis of Cri du Chat syndrome. This deletion was not find in girl parents, in fact this case occured as a de novo mutation. The reccurent risk for the parents was similar like in general population.