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Cri Du Chat Syndrome
Introduction
Cri du chat syndrome is an autosomal deletion syndrome, resulted from a partial missing short arm of chromosome number 5. Cri du chat syndrome is named after characteristics cry of infants, which is similar to the mewing of kittens.
The cat like cry in infants is due to abnormal larynx and other central nervous system disorders.
Cause:
- The cause of cri du chat syndrome is partial deletion of information on chromosome 5. Sometimes multiple genes on chromosome 5 may be missing.
- In most of the cases, deleted chromosome is from paternal side.
- The deleted chromose 5 may vary from one arm to a small portion known as 5p15. In most of the cases around 30 to 60% of the arm of chromosomes is deleted.
- Telomerase reverse transcriptase gene is responsible for cell growth, if found missing, may develop symptoms characteristics to abnormal growth.
- The risk of affecting cri du chat syndrome affects one in around 50,000 births. These babies can be diagnosed for cri du chat syndrome by their high pitch cat like cry.
Symptoms of Cri du chat syndrome:
Some of the symptoms associated with cri du chat syndrome include
- High pitch cry in infants, which become normal after a few years.
- Swallowing difficulties
- Ear infections in infants
- Speech an motor delays
- Behavioral abnormalities including aggressiveness, self-injurious behavior, hyperactive and repetitive movements.
- Some of the physical features include microcephaly (small head), low birth weight, slow growth , palpebral fissures, small jaw, abnormal low-set ears, round face, full cheeks, flat nasal bridge, single crease on palm, low muscle tone, separated abdominal muscle ( diastasis recti), inguinal hernia, epicanthal folds (additional folds of skin over the inner corner of the eye) and heart problems.
- Progressive mental retardation.
Diagnosis:
The following tools are tried to confirm or ruling out the cri du chat syndrome.
- High-resolution cytogenetic studies are carried out to find out even a small depletion in chromosome 5.
- FISH ( Fluorescence in situ hybridization) allow us to use genetic markers for finding even a very small amount of deletion in chromosome 5.
- Micro array CGH is a new technique and able to measure precise and sufficient reliable single-copy aberrations.
- X ray of skull is carried out for finding microcephaly and cranial base malformations.
- Magnetic resonance imaging (MRI) is useful for detecting any brain related problem.
- Echocardiography is useful for diagnosing and cardiac related problems.
Treatment and care:
- Although cri du chat syndrome has no specific treatment, there are various possibilities to support the patients, treat the symptoms wherever possible and if necessary apply the surgical methods.
- Medical problems such as respiratory, feeding problems and constipation should be treated.
- Counseling to improve behavioral problems and difficulties should be focused.
- Cardiac related problems should be rectified by medicine or surgical method as soon as possible to avoid further complications.
- The mental retardation in children should be addressed.
Prognosis:
- Many children can develop some language skills.
- Some of the children are able to communicate verbally of through gesture.
- Some children may develop some social skills and will be able to develop self-care skills.
- Cat like cry will go after few years.
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