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Cri du chat

Cri du chat syndrome, also called deletion 5p syndrome, or 5p minus, is a rare genetic disorder due to a missing portion of chromosome 5. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 20,000 to 50,000 live births. The disorder is found in people of all ethnic backgrounds and is slightly more common in females. more...

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Signs and symptoms

Its name, meaning cat cry in French, is from the distinctive mewing sound made by infants with the disorder. As babies, patients tend to be squirmy with a mewing cry, ascribed to abnormal laryngeal development. The cry becomes less distinctive with age. Individuals with cri du chat syndrome are often underweight at birth. The disorder is characterized by distinctive facial features, small head size (microcephaly), low birth weight, weak muscle tone (hypotonia), a round face, epicanthal folds, low set ears, strabismus, facial asymmetry and downward slanting palpebral fissures. Cardiac malformations may occur and affect the vital prognosis. The importance of the whole syndrome seems to vary depending on the amount of lost DNA material.

In terms of development and behaviour, severe mental retardation is typical. Expressive language is an area of weakness, and signing is often used. Hypersensitivity to noise is common. Also, some have autistic traits such as repetitive behaviors and obsessions with certain objects. Apparently, many enjoy pulling hair. They are often happy children, and are described as "loving" and sociable.


Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5. Approximately 85% of cases results from a sporadic de novo deletion, while about 15% are due to unequal segregation of a parental chromosome translocation. Although the size of the deletion varies, a deletion at region at 5p15.3 is responsible for the unique cry and the critical region of 5p15.2 is responsible for the other features. The deletion is of paternal origin in about 80% of cases in which the syndrome is de novo. Genetic counseling and genetic testing may be offered to families with cri du chat syndrome.


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Walking in their shoes
From Pediatrics for Parents, 4/1/04 by John E. Monaco

It is so easy to judge, isn't it. Unfortunately we do it all the time in medicine. Unlike other sciences, we sometimes have to act on hunches or experience ... experience based on the sum total of our own life experiences. We make assumptions of patients' lifestyles, their priorities and even their intelligence based on what we see and what we learn in a three to five minute conversation. Ironically, we tend to be the most judgmental when we are the youngest, and also the least experienced.

We physicians sometimes pretend to be experts in quality of life issues. We occasionally are a bit smug about "quality" being much more important than length of life, and have difficulty understanding, sometimes, why family members go to any length to keep family members alive, when we have already decided that the patient in question is no longer enjoying a life worth living.

I was reminded of this recently when I took care of a little girl named Courtney. She is a seven year old, quite unfortunate young lady whose main problem, the one for which she was being admitted to the hospital, was pneumonia. The list of her other problems, however, was so long that, at first, I thought the ER doctor was making them up just to play a joke on me. (Yes, occasionally this is done).

For starters, she had "cri du chat" (cry of the cat) syndrome, so named because of the unusual nature of these children's cry in infancy. This syndrome is usually caused by a chromosomal abnormality. Most importantly, it is accompanied by severe mental and developmental delay.

Courtney, for example was didn't talk, had limited use of her arms, and could not walk. On a good day, she could sit up in bed without assistance. She had undergone open heart surgery as an infant to fix two congenital heart anomalies. She had a large, mid-chest scar to prove this.

She had severe gastroesophageal reflux (backward flow of food from the stomach into the esophagus) requiring surgery. She now could only take food through a gastrostomy tube (a tube placed in her stomach), and was unable to take anything by mouth. Because of years of lying in bed, she had developed terrible scoliosis, or curvature of the spine, to such a degree that it compromised the function of her left lung, setting her up for repeated pneumonias. Surgical repair was planned in a few months.

Recently she had been found to have hypothyroidism, and was treated with synthetic thyroid hormone. She was on medicine to prevent her from having seizures. Everywhere her mother went she carried a full page long typed list of all her medicines and dosages to treat the multiplicity of Courtney's problems, any one of which had the potential to end her short life.

Before I even had a chance to make a regular hospital visit with her, I was having a conversation in the hall with one of our community pediatricians. "What a shame," he commented. "We do everything we can to keep these kids alive, and for what? The parents must know that there is no hope for meaningful life. It's such a waste of resources. Someone should really talk to them." He apparently did not intend to be the one to have this conversation, as he very quickly turned and hurried off to his busy office and full waiting room.

As I stood there and watched him walk down the hall, my head was still unconsciously shaking in agreement. He made good sense, I thought. This really was a waste. But what could I do about it now? She had been admitted with a fairly straight forward problem, pneumonia. My job was to fix that, as quickly as possible, and then to send this unfortunate family on its way. It was not my role to involve myself in sweeping medical ethical issues. That was for the priests and the judges, I thought to myself. Satisfied that I had this case in the proper context, I went in to meet Courtney and her parents.

What I saw and felt when I entered the little pediatric intensive care unit cubicle where Courtney had been placed, left me momentarily speechless, and forever changed. There, on the hospital bed, were Courtney's parents. They were in their early 30's, very nicely dressed with an air of approachable sophistication about them. Mother's obviously nicely groomed blonde hair was disheveled from a night in the emergency room, and Dad was dressed sharply and professionally, obviously planning to go on to work after he had talked with me. They smiled warmly and said "Good morning, Doctor," almost in unison. Between them was a lump in the bed, Courtney I assumed, completely under the covers except for a tuft of brown hair sucking out from the top. Mother was stroking her hair, while Dad rubbed her leg.

When doctors take histories from patients, we are usually in a hurry. We are taught to be good listeners and to let patients describe things in their own words, but we often become frustrated when the discussion tends toward the conversational and the patient digresses to areas they may think are important, but for which we have no interest or patience. It is then that we typically interrupt to try to get them back on the track ... in a sense to give us the answers we are looking for.

When Courtney's parents began to tell their story I was immediately enthralled. It was not so much the many frightening medical moments they had endured or the frustrations they had encountered. It was the love with which they recounted all these events which astounded me. And even more than that it was the commitment they showed.

Courtney had had remarkable care by these people, and it was only because of that care, motivated by completely unconditional parental love, that she was still alive. At first, this was heart warming, but then I was saddened a bit by the irony of a child with essentially no hope being cared for by parents with limitless love and optimism. What a difference that might make if only some of the victims of abuse and neglect I had seen were exposed to just ten percent of this type of parenting.

Then I thought about the things that worry my wife and me about our kids. We obsess about their grades, their friends, the time they spend in front of the TV and computer, and, at times of high frustration, wonder what we did to deserve such rotten kids. And for a moment I felt incredibly small and ungrateful. These parents, who had just spent the better part of an hour with me, never complained. By my way of thinking, and I dare say in most people's minds, Courtney's parents had a million things to complain and feel sorry for themselves about. But they never once did, and then to top it all off, they thanked me for the time I spent with them. I remember thinking to myself I should be thanking them.

As I was about to leave them. I turned and asked them what we could expect out of Courtney in terms of behavior (I had no idea what her "baseline" neurological activity was) when she was feeling better. They said that I would know. When she feels good, she sits up, smiles and tries to touch your face. "And when she is really feeling good," her father jovially added, "she taps her foot to music!"

At that moment I sensed something moving under the covers between Courtney's parents, right about where her foot, at the end of her contorted leg, would be. The bedside TV was on and I realized that the "Barney" song was quietly emanating from the small speaker next to Courtney's head. Indeed, she was tapping her foot to the beat of Barney's theme. We all laughed, her parents leaned down to kiss and muss her hair, and I left to regain my composure.

John E. Monaco, M.D., is board certified in both Pediatrics and Pediatric Critical Care. He lives and works In Tampa, Florida. He welcomes your comment, suggestions, and thoughts on his observations.

COPYRIGHT 2004 Pediatrics for Parents, Inc.
COPYRIGHT 2004 Gale Group

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