Learned something new

As an evaluator, I have seen hundreds and hundreds of children through the years and encountered innumerable diagnosis. What makes my job more and more interesting to me is when I learn something new. I have never heard of achalasia up until last week. It is a disorder of the esophagus that affects the esophagus' ability to move food toward the stomach. It was the child’s mom who was diagnosed with this. Mom had a high-risk pregnancy; she was hospitalized about 15 to 20 times due to frequent regurgitation of food, difficulty taking in food and keeping it down. She lost 40 lbs. Mom was in so much distress, that an elective C-section was requested and scheduled on her 36th week.

On my next case, I was introduced to Noonan Syndrome by the parents of a premature child that I was evaluating. Mom and dad alternately explained that it was a genetic disorder, that afflicted children have cardiac problems, hearing loss, failure to thrive, developmental disorders, mental retardation, and so on. The extent and/or severity of the disorder vary greatly.

I got many hits when I did an online search for Noonan Syndrome, but I’ll share with you the information that I got from MayoClinic.com.

Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A child may be affected by Noonan syndrome in various ways: unusual facial characteristics, short stature, heart defects, other physical abnormalities and problems, and mental retardation.

The cause of Noonan syndrome is a mutation in one of two genes (PTPN11 and KRAS) responsible for making a specific type of protein that plays an important role in the development of the heart, blood cells, bones and other tissues. Noonan syndrome is acquired when a child inherits a copy of an affected gene from a parent. It can also occur as a spontaneous mutation in a child, meaning there's no family history of the disease.

It is estimated that Noonan Syndrome occurs in one of 1,000 to 2,500 births. There's no cure, and treatment focuses on managing the disease's symptoms and complications. Growth hormone has been used successfully to treat short stature in some people who have Noonan syndrome. It used to be called Turner-like syndrome because certain symptoms (webbing of neck and abnormally shaped chest) resembled those seen in Turner syndrome. Other names for Noonan syndrome are:

· familial Turner syndrome
· Female Pseudo-Turner Syndrome
· Male Turner Syndrome
· Noonan-Ehmke syndrome
· pseudo-Ullrich-Turner syndrome
· Turner's phenotype, karyotype normal
· Turner syndrome in female with X chromosome
· Ullrich-Noonan syndrome

If you want to know more, this booklet and this site will be helpful.

While obtaining the child’s birth and medical history, another new term (to me, at least) came up. Hydrops. When mom went in for a regular doctor’s check-up on her 31st week, it was found that the baby had hydrops, a serious fetal condition defined as abnormal accumulation of fluid in 2 or more fetal compartments, including abdomen, subcutaneous tissue, pleura, or pericardium (heart) tissues. Mom had to undergo an emergency Caesarian-section delivery. The baby was born weighing 6 lbs. 7 oz., but the amount of fluid drained from her was 3 lbs 6 oz. Technically, the baby’s weight was 3 lbs 1 oz.

Achalasia. Noonan Syndrome. Hydrops. Off you go to my medical terminology memory bank.