Cri-du-chat, syndrome or disease

[MIM 123 450]

(Deletion of the short arm of chromosome 5, monosomy 5 p)

Prevalence: 1/15,000 to 1/50,000. Autosomal dominant transmission of a segmental (variable size) deletion of the short arm of chromosome 5 (5 p). The genes coding for semaphorin F (SEMA5A) and d-catenin (CTNND2), are located in this area and potentially involved in the cerebral development. The deletion of the gene coding  for the telomerase reverse transcriptase (hTERT) localized on 5p15.33 may contribute to the phenotypic manifestations of the syndrome. This region of chromosome 5 contains the DNAH5 gene of the heavy chain 5 of dynein, which causes about 30% of the ciliary dyskinesia (see this term). This explains that a number of children with Cri du Chat syndrome present with neonatal respiratory distress and frequent respiratory infections (bronchitis, pneumonia).


Other clinical features:

-        a monochromatic acute cry, due to an abnormality of the larynx and resembling the miaowing of a cat (only in the neonatal period and infancy !), various anomalies of the epiglottis

-        microcephaly with broad nasal bridge, hypertelorism and epicanthus, micrognathia, sometimes facial asymmetry

-        abnormalities of the dermatoglyphs

-        important mental and psychomotor retardation

-        hypotonia

-        renal malformations: horseshoe kidney, unilateral agenesis

-        scoliosis

-        frequent congenital heart disease


Anesthetic implications:

ultrasound examination of the heart and kidneys; difficult intubation :  diamond shaped  and very anterior larynx in infants. Hypotonia, risk of upper airway obstruction. Risk of hypothermia. Plan pre - and post-operative respiratory physiotherapy. One suspicious case of malignant hyperthermia (rigidity, trismus, hyperthermia following sevoflurane and succinylcholine use) has been reported, but it was spontaneously resolutive and undocumented (no CPK levels, contracture tests, genetic exploration).


References : 

-        Yamashita M, Tanioka F, Taniguchi K, Matsuki A, Oyama T.
Anesthetic considerations in Cri du chat syndrome : a report of three cases.
Anesthesiology 1985 ; 63 : 201-2.

-        Brislin RP, Stayer SA, Schwartz RE. 
Anaesthetic considerations for the patient with cri du chat syndrome. 
Pediatr Anesth 1995; 5:139-41.

-        Castresana MR, Stefansson S, Cancel AR, Hague KJ.
Use of the laryngeal mask airway during thoracotomy in a pediatric patient with Cri du chat syndrome.
Anesth Analg 1994; 78: 817

-         Shapiro AJ, Weck KE, Chao KC, Rosenfeld M et al. 
Cri du Chat syndrome and primary ciliary dysplasia: a common genetic cause on chromosome 5p. 
J Pediatr 2014; 165: 858-61 

-        Guala A, Spunton M, Mainardi PC, Emmig U, Acucella G, Danesino C.
Anesthesia in Cri du Chat syndrome: information on 51 Italian patients.
Am J Med Genet A; 2015; 167A: 1168-70

-        Amato AO.
Difficult airway management and suspected malignant hyperthermia in a child  with Cri du Chat syndrome.
Saudi J Anaesth 2019 ; 13 :81-3


Updated: August 2019