What is Sotos Syndrome? December 8, 2013

Hello All,

Although this is a blog about Periodic Paralysis, I have decided today to post an article I wrote about Sotos Syndrome. My family not only deals with Periodic Paralysis but I had a daughter born with another very rare genetic disorder called Sotos Syndrome. Trying to find a diagnosis and proper treatment and answers for an unknown illness were not new to me when my journey with the devastating effects of the Periodic Paralysis began for me.

What I do today with my website, blog, support groups, book and advocacy and more, is rather a continuation of my work battling the medical professionals and the injustices being dealt by their hands; the hands of those who take a vow to "do no harm" that started over forty years ago. You see my daughter died needlessly, tragically and painfully due to the negligence of  medical professionals in an emergency room, when they told me to take her home. They said she had the "flu" and she must "suffer" at home like everyone else. She died about five hours later at home from "overwhelming sepsis." (poisoning throughout her blood system which showed up in the blood work) I often wonder if she had Periodic Paralysis also which led to the sepsis which is connected to metabolic acidosis, a problem for many of us with Periodic Paralysis.

We with Periodic Paralysis can relate to this kind of treatment  and neglect at the hands of the medical professionals who treat us.

What is Sotos Syndrome?

One of my children was born with Sotos Syndrome. It is also known as Cerebral Gigantism. It is a little known and very rare, genetic, overgrowth disorder. Sotos is manifested by physical growth, which is accelerated; hands and feet, which are abnormally large; head and facial features which are very distinctive; a high arched palate; developmental delays and poor coordination and muscle tone.

 
Sotos Syndrome was described first in 1964 in the New England Journal of Medicine and in 1994, there were fewer than 200 known cases worldwide. Today, about one in fourteen thousand children are born with Sotos Syndrome. This condition is not life threatening; individuals with it may live a normal life span. There is no established method of treatment. It is based on the symptoms that occur.

           

Typically, a baby born with Sotos Syndrome is larger than normal. The fast growth pattern continues until about four or five years of age, then it tends to normalize. By puberty, however, the growth ceases. In many cases, a child of four may be the size of an eight or nine year old. This is where the term "gigantism" comes into play. A child’s bones under X-rays reveal advanced maturation. A boy may reach 6' 8", a girl 6' 2".

Those born with Sotos have heads, which are larger, narrower and longer than normal. Foreheads are wide and project minimally outward with a higher hairline. Chins are tapering and eyes are down slopping and may be set far. The upper and lower teeth do not come together. Speech, sucking, drooling and eating may be issues foe to a narrow and high palate (roof of mouth).

           

Hands appear "chubby" and are large as are the feet. An adult with Sotos may wear a size 18 shoes. It is not uncommon to have weak ankles and fallen arches and an abnormally long arm span. They may bend forward slightly and have an awkward and unique way of walking. Clumsiness is common because of weak muscle tone and poor motor skills.

           

The average IQ is low normal at about 72 and the child may need to be in Special education classes. In some cases, however, there may be an individual with Sotos who has a normal IQ.

           

Developmental delays are usually involved in all areas using fingers and hands; walking, balance; understanding; speech; socially; emotionally and toilet training. However, understanding what is heard is more accelerated. They understand what to say, before they can say it. This causes great frustration.

           

Behaviorally there may be: aggression, anger, annoyance, fears, compulsions problems with changes in routine, hyperactivity, short span of attention and autistic like behaviors.

Other features, which may be seen in an individual with Sotos Syndrome, include:          

  

Curvature of spine

Early teeth

Deformed hips sockets, clubfeet

No feeling or low feeling of pain, heat or cold

Some cancers or tumors

Sensitive scalp

Ear infections

Respiratory illnesses

High fevers

Seizures from fevers

Loose ligaments

Cheeks often flushed

Enlarged brain ventricles

Allergies

Constipation 

Asthma

Enlargement of the bowel

Non-alignment of eyes

Thyroid issues

           

Most issues or challenges improve as the child matures. Diagnosis is difficult. There is no cure for Sotos Syndrome. Treatment is based at relieving the symptoms as they may occur. Early intervention is important.   

Sotos Syndrome can now be diagnosed by genetic testing. A mutation on chromosome 5 is the cause. The NSD1 gene is at chromosome 5q35. About 75% of Sotos cases are due to this mutation. NSD1 deals with the protein used in growth and development. Only 5% of all cases of Sotos Syndrome have a family history of the condition.  This gene mutation may be passed from either parent to the child.

           

Although a very rare condition, much is known about Sotos Syndrome today. When my daughter was born on Christmas Day those many years ago, not much was known about it. It took four years to get a diagnosis and she was one of the first to be recognized with it. She was diagnosed based on her symptoms and characteristics. She only lived to be five years old. She suffered greatly due to many of the accompanying features. She was born with a deformed and dislocated hip, loose ligaments and most all of the issues described. Our journey together was not an easy one. I was very alone and very little information existed at that time about Sotos Syndrome.

Today, simply using a search engine on the computer, gives us access to the latest information about it. There are websites, support groups, videos, medical articles in journals, handbooks and more.

    

Until later...