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

Abstract

SUMMARY An unusual case of the cri-du-chat syndrome is described in a 61 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.

Cri du chat syndrome: A critical review

“…Nevertheless, we could not consider it a pathognomonical sign of the syndrome, because it has also been found in certain kinds of disorders or neurologic diseases (3). The pathogenesis of this crying was attributed to morphologic laryngeal alterations by the first published cases (1): flappy, small and curved epiglottis, hypoplastic, narrow and diamond-shaped or quadrangular larynx, having an abnormal air space in the posterior area during phonation (5,6). Nevertheless, subsequent studies established that these anatomical alterations were not necessarily present in every patient, therefore the existence of some other organic and/or functional factors were not being considered (5).…”

“…Nevertheless, subsequent studies established that these anatomical alterations were not necessarily present in every patient, therefore the existence of some other organic and/or functional factors were not being considered (5). Currently the pathogenesis is associated not only with anatomical alterations in the epiglottis and the larynx but also with structural and/or functional neurological alterations (5,6). In addition to the crying, the newborn with CdCS presents a low birth weight (below 20th percentile, 2.614 g average weight), and small size (always below 50th percentile) despite a gestational age close to the norm (5).…”

Cri du chat syndrome: genotype–phenotype correlations and recommendations for clinical management

“…Indeed, the hallmark cat cry is still regarded as an important early clinical diagnostic feature of this syndrome in some but not all affected newborn infants. Further research in the 1960s and 70s resulted in the publication of numerous case reports [2][3][4][5] and a triad of clinical features became associated with CDC: the cat-like cry, dysmorphic facies, and profound global learning disability. It is now recognized that this triad does not present in all patients.…”

Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods

“…These stimuli are intended to develop at the same time hearing and visual attention. As in older CdC patients, balance difficulties and ataxic gait [2, 6] were observed; exercises were proposed to improve both passive and active balance and to prevent balance difficulties appearing with age. In younger patients, swinging on a blanket carpet, seesaw, and swivel chair was proposed; in older patients, exercises include rolling on a carpet, flips, and walking on a rough path.…”