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Cri Du Chat Syndrome

Crying Cat Syndrome


Presentation

The most common and characteristic symptom of Cri Du Chat syndrome is a cat like cry of an infant which however disappears gradually as one grows older. Other additional symptoms of this genetic disorder include the following:

  • Low birth weight and delayed development
  • Intellectual disability
  • Small head and eyes
  • Low set ears or ears that are abnormally placed
  • Eyes are wide set
  • Small eyes
  • Hyperacusis or the sensitivity to a certain sound range [4]
  • Development of just single line in palm
  • Motor skills develop slowly
  • Severe drooling
  • Poor cognitive functions
  • Problems in swallowing and sucking [5]
  • Behavioral problems characterized by aggressive nature, hyperactive personality and repetitive movements
  • Development of unusual facial features such as downward slant eyes
  • Appearance of skin tags in front of the ear
  • Auditory neuropathy or neural dyssynchrony [6]
  • Hypospadiasis in male children [7]
Snoring
  • In each group, mean scores for Snoring were significantly higher than those for Sleep apnea and Snoring was the most prevalent type of sleep disturbance in CDC, DS, and JS.[ncbi.nlm.nih.gov]
Multiple Congenital Anomalies
  • A female infant presented at birth with hypotonia, growth retardation, distinctive facies, multiple congenital anomalies, and a high-pitched mewing cry characteristic of cri du chat syndrome.[ncbi.nlm.nih.gov]
  • Background In 1963, Lejeune et al described a syndrome consisting of multiple congenital anomalies, mental retardation, microcephaly, abnormal face, and a mewing cry in infants with a deletion of a B group chromosome (Bp-), later identified as 5p-. [1[emedicine.medscape.com]
Arachnodactyly
  • A 12-year-old boy with a history of a mewing cry after birth, severe mental retardation, Marfanoid arachnodactyly, general osteomalacia and multiple bone fractures was found to have a de novo 5p;12q chromosomal translocation.[ncbi.nlm.nih.gov]

Workup

A thorough physical examination will be performed to check for the facial features and other symptoms which may reveal the following conditions:

In addition to physical examination some other diagnostic procedures would also be required to confirm the presence of Cri Du Chat syndrome:

  • Imaging studies such as MRI scan to look for cerebellar abnormalities.
  • X–ray examination to study the facial abnormalities along with cranial base structure.
  • An echocardiogram may also be necessary to understand the cardiac defects.
  • Development assessment would also be necessary to understand the developmental delay in children [8].
  • Fluorescence in situ hybridization (FISH) [9].
Hypsarrhythmia
  • This is the first case with Cri du chat syndrome associated with nonketotic hyperglycinemia, infantile spasms, hypsarrhythmia, and heterotopia.[ncbi.nlm.nih.gov]

Treatment

There is no treatment that can cure this genetic disorder. The symptoms can be managed with appropriate therapies. The following are the various ways through which the symptoms can be managed effectively:

  • Support from family and friends are necessary for the proper upbringing of the child.
  • Cri DU Chat syndrome causes developmental delay and therefore efforts should be channeled to provide adequate nutrition to the baby so that the growth does not get further delayed due to poor nutrition.
  • Visual-Motor coordination computerized training to improve the visuospatial performance of the afflicted child [10].
  • Early initiation of behavioral therapy, speech therapy and physiotherapy should be done so that the child can learn to communicate his requirements to family and friends. 

Prognosis

Majority of the cases show a good prognosis with proper management and treatment regime. About 10% of children die in the first year of life. Individuals, who survive the syndrome, have to live with disabilities which can be well managed with specialized educational programs that support appropriate psychomotor development and social adaption. With these additional therapies improvement in the behavior pattern and symptoms has been noticed. Findings of an Italian study revealed that with appropriate therapies for psychomotor development, an individual with Cri Du Chat syndrome could live up to 61 years.

Various other research studies have also postulated the fact that, with better educational programs and rehabilitation, children could learn to walk and communicate effectively with other individuals. Due to this social interactions also improved and children could carry out many of their activities independently.

Complications

Complications of Cri Du Chat syndrome include the following:

Etiology

The exact cause that triggers such a genetic anomaly is yet not known. The absence of chromosome 5 is a random event that is known to take place during the fertilization process of the egg and sperm [3]. The chromosomal defect can also occur during the early phase of fetal development. This condition cannot be inherited and hence is not passed from one generation to other.

Epidemiology

Cri Du Chat syndrome is a rare disorder estimated to be present in 1:20,000 to 50,000 new born. Such a condition is found in individuals from all ethnic groups. It is known to affect more females than males, with female to male ratio being 4:3.

Sex distribution
Age distribution

Pathophysiology

The missing chromosome number 5 causes Cri Du Chat syndrome. The cry of the infant is unusually high pitched and resembles the cry of kittens. Such a characteristic feature is due to dysfunction of the central nervous system and structural abnormalities of the larynx which occur due to the absence of chromosome 5.

However, this genetic defect cannot be totally attributed to the structural abnormalities of larynx; as certain other factors can also play a role. Cri DU Chat syndrome is the resultant reaction of the partial or complete deletion of the genetic material on the short arm of the chromosome number 5. In majority of the cases, the characteristic cat like cry disappears when children grow older.

Prevention

Early diagnosis of the disease during fetal development is the only way to prevent the disease. Several diagnostic tests during pregnancy can be done to detect the development of genetic disorders.

Summary

Cri Du Chat syndrome is a rare form of genetic condition characterized by absence of chromosome number 5 [1]. The syndrome has been named after the most significant symptom of this condition – high pitched and cat like crying of infant. This syndrome is therefore also known as cat cry syndrome. This condition was first described by Jerome Lejeune in the year 1963.

Infants born with this genetic defect often have distinct facial features and can also suffer from heart anomalies [2]. Children also face various difficulties for the rest of their life. Though the symptoms can be managed with appropriate treatment regime, the genetic defect cannot be cured completely.

Patient Information

Definition

Cri Du Chat syndrome is a rare genetic defect that occurs due to missing chromosome number 5. The affected baby cries out like a cat and this is usually the first sign of this disease. The child may also be born with other unusual facial features. With appropriate management, the prognosis of the disease is good and individuals can live for longer and lead a healthy life.

Cause

The partial or complete absence of short arm of chromosome 5 causes Cri Du Chat syndrome. It occurs during the early phases of fetal development.

Symptoms

Symptoms of Cri Du Chat syndrome include high–pitched cat like crying that generally disappears by the time the child turns 2. Other symptoms include unusual facial features such as wide set eyes, abnormally placed ears, development of skin tags in front of the ear, aggressive behavior, slowed growth and development.

Diagnosis

The condition is diagnosed by a thorough physical examination of the baby after birth. In addition, other tests such as MRI scan and X-ray examination are done to study other abnormalities.

Treatment

Treatment of the disease condition is focused on effective management of the symptoms. Early initiation of behavioral and speech therapy in conjugation with physiotherapy would help in better management of the symptoms.

References

Article

  1. LeJeune J. [Role of cytogenetics in the study of neoplastic processes]. Rev Prat. Dec 9 1963; 13: SUPPL 21-3.
  2. Rodriguez-Caballero A, Torres-Lagares D, Rodriguez-Perez A, Serrera-Figallo MA, Hernandez-Guisado JM, Machuca-Portillo G. Cri du chat syndrome: a critical review. Med Oral Patol Oral Cir Bucal. May 2010; 15(3):e473-8.
  3. Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J. Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet. Jun 1995; 56(6):1404-10.
  4. Cornish KM, Cross G, Green A, Willatt L, Bradshaw JM. A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis. J Med Genet. Jul 1999; 36(7):567-70.
  5. Manning KP. The larynx in the cri du chat syndrome. J Laryngol Otol. Oct 1977; 91(10):887-92.
  6. Swanepoel D. Auditory pathology in cri-du-chat (5p-) syndrome: phenotypic evidence for auditory neuropathy. Clin Genet. Oct 2007; 72(4):369-73.
  7. Chen CP, Huang MC, Chen YY, Chern SR, Wu PS, Su JW. Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: Prenatal diagnosis and aCGH characterization using uncultured amniocytes. Gene. Mar 14 2013;
  8. Cornish KM, Pigram J. Developmental and behavioural characteristics of cri du chat syndrome. Arch Dis Child. Nov 1996; 75(5):448-50.
  9. Ye Y, Luo Y, Qian Y, Xu C, Jin F. Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation. Fertil Steril.Jul 2011;96(1):e71-5
  10. Pizzamiglio MR, Nasti M, Piccardi L, Vitturini C, Morelli D, Guariglia C. Visual-motor coordination computerized training improves the visuo-spatial performance in a child affected by Cri-du-Chat syndrome.Int J Rehabil Res. Jun 2008;31(2):151-4.

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Last updated: 2018-06-22 02:40