Who was crying that night? A Cat or a Baby?  Cri-du-chat syndrome

 Dr Sampurna Roy MD

 

Who was crying that night? A cat or a baby? Cri-du-chat syndrome

 


There was a pretty little cottage with a small garden few yards away from my house. 

The owner of the cottage was 45 year old man who lived with his wife and half a dozen cats.

This childless couple didn’t want to adopt a baby.

I could see their lovely garden from my balcony. The cute kittens would be playing all day.

Sometimes we could hear the cats meowing loudly in the middle of the night. The neighbours never complained. Everyone called it the "Cat House". 

One day I heard, the lady of the house was pregnant. She was an elderly primigravida.

I hoped that she would go through the pregnancy smoothly.

I noticed that the cats in the garden had disappeared. 

The watchman of the house told my maid that the couple had decided to move all the cats from the house, before the arrival of the baby.

Not sure what happened to the cats but the garden was very quiet. 

I soon forgot about the family and their cats.


Almost 10 months later -

I suddenly woke up to a strange sound. It was a high pitched sound of a cat crying.  Did the couple bring back their cats?

I saw the quiet empty garden in the morning.

I was sure I heard a cat crying. Who was crying that night?

Later I found out it was not a cat, but the newborn child crying. The baby had Cri-du-chat syndrome.

 

To know more about the disease please read: Espirito Santo LD, Moreira LMA, Riegel M. Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients. BioMed Research International. 2016;2016:5467083. doi:10.1155/2016/5467083.

 

In 1963, when Lejeune et al. reported a genetic disease causing from a deletion of the short arm of chromosome 5  and named it the Cri-du-chat syndrome.  It is one of the most common chromosomal deletion syndromes in humans, with an incidence of 1:15.000-1:50.000 live-births.  

The main clinical feature of the syndrome, is a high-pitched monochromatic cat-like crying, that usually disappears in the first year of life.

The cat-like cry is usually considered as diagnostic for the Cri-du-chat syndrome.

According to the researchers a critical region located between 5p15.2 and 5p15.3  is responsible for the 5p deletion.

The deletion of 5p15.2 has been reported to be responsible for the observed dysmorphism and intellectual disability in these patients, and the proximal region of 5p15.3 has been associated with the "catlike" cry and speech delay.

The characteristic cat-like cry is probably due to anomalies of the larynx (small, narrow, diamond-shaped) and of the epiglottis (flabby, small, hypotonic), as well as to neurological, structural and functional alterations.

Other clinical abnormalities include microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation. Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism. 

Read: Cerruti Mainardi P. Cri du Chat syndrome.Orphanet Journal of Rare Diseases.2006; 1:33. doi:10.1186/1750-1172-1-33.

 

According to the study by Dr Paola Cerruti Mainardi after the first year of life, the survival rate is high and morbidity is low. Among the cases described in the study, three patients lived beyond 50 years of age.

 

The mortality in the series studied by Niebuhr was about 10%, 75% of which occurred during the first months of life, and up to 90% within the first year .

 

"There is no specific treatment for Cri du Chat syndrome as the cerebral damage resulting from the mutation occurs in the early stages of the embryonal development. Nevertheless, patients benefit from rehabilitative programs, which should be started as soon as possible and involve close collaboration with families, who must be supported psychologically. Moreover, it is important to give to the families updated information about the syndrome."


The couple with the baby relocated to a different city. The "Cat House" is now empty.

I'm hoping someday the whole family will return home and the child will be playing in the garden with a cute little kitten.

 

I just heard a cat cry!  Oh no don't sit on my laptop.


 

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