Have you ever noticed that your little baby's hair is very strange, curly like a wire, light in color, and breaks easily? Or does your baby's body feel very loose and cold? Although these are things that we sometimes don't pay much attention to, they can be the first signs of some rare diseases. For example, a disease that can occur in babies, but is not talked about much, is called Menkes Disease. Let's talk about this in a little more detail today.
What is Menkes Disease? Simply put...
Menke's disease is a genetic condition . It means that a baby is born with it. What happens in this is that the body cannot properly use the essential nutrient copper . Now you may be thinking, "What is copper for?" Actually, copper is something that helps many important systems in our body function properly. Think about it:
- Our nervous system (that is, the brain and the nerves running throughout the body) must function properly.
- Keep our bones strong.
- May our hair and skin be healthy.
- Our blood vessels (where blood flows) should function properly.
Copper is essential for all of these. So, since the body of a baby with Menkes Disease does not use this copper properly, it can cause serious damage, especially to the nervous system. This causes the baby's growth to be stunted and the body to become weak. The sad thing is, this disease can be life-threatening .
In this disease, the baby's hair becomes strangely curly and looks like wire, so some people call it "kinky hair disease."
The important thing is that there is no complete cure for this yet. However, if copper treatment is started within the first four weeks of the baby's birth, it is possible to alleviate the symptoms and extend the baby's life a little. Therefore, early diagnosis is very important.
How common is Menkes Disease?
Worldwide, it was previously thought that about one in 100,000 newborns could have this disease. That's about one in two and a half million.
However, a new study conducted in 2020 using data from the Genome Aggregation Database found that this number could be much higher. Accordingly, it is said that one in 8,664 male children in the United States alone, or about 225 babies per year, may have this condition.
If screening methods for newborns are developed in the future, these statistics will be further confirmed and it will be possible to identify the disease early and begin treatment.
Who is most likely to get this disease?
Menkes disease most often affects boys , but it can affect any race or ethnic group.
What are the symptoms of Menkes Disease?
Babies with Menkes Disease can sometimes be born prematurely . They may appear to be generally healthy at birth.
However, the first symptoms begin to appear around 2 to 3 months of age . These are:
- Kinky hair is a type of hair that is curly, wiry, and wavy. This hair is very light in color, sometimes white or gray. It also breaks easily.
- Decreased muscle tone (Hypotonia): This means that the baby's body is very limp. It seems lifeless.
- Low body temperature (Hypothermia): The baby's body feels cold all the time.
- The face takes on a drooping appearance .
- Symptoms of epilepsy (seizures/epilepsy) , that is, conditions like seizures.
- Failure to thrive: The baby is not growing properly and is not gaining weight .
- Yellowing of the skin and eyes (jaundice).
These symptoms do not appear in every baby at the same time. Sometimes, although very rarely, these symptoms can appear later in childhood or even in adolescence.
What are the possible complications of Menkes Syndrome?
Menkes Syndrome is a neurodegenerative disorder that gradually destroys the nervous system . This means that over time, cognitive problems develop in the brain and thinking skills. Children and adults with this disease can develop complications such as:
- Problems like brain hemorrhages (subdural hematomas) .
- Diverticulosis is the development of small pouches that protrude from the walls of the intestines or bladder.
- The formation of extra small bones (Wormian bones) in the skull.
- Loss of motor skills .
- Osteoporosis is a condition that causes bones to become weak and brittle, making it easier to break.
- Arterial tortuosity syndrome .
There is something important to say here. Sometimes, when a baby has bleeding in the brain or broken bones, doctors may suspect that the child is being abused. If you know that your child is in a safe environment, but they are showing these symptoms, definitely talk to your doctor and discuss getting tested for Menkes Disease.
What is Occipital Horn Syndrome (OHS)?
Occipital Horn Syndrome (OHS) is a milder form of Menkes Disease. This means that the symptoms are not as severe. It is usually diagnosed in a child between the ages of 5 and 10.
In addition to the mild symptoms of Menkes Disease, children with OHS may also experience:
- Occipital horns: These are horn-like structures formed by calcium deposits at the base of the skull.
- Dysautonomia: A problem with the nervous system that affects things like blood pressure and body balance.
- Joint and skin loosening.
- Minor problems with thinking ability.
What causes Menkes Disease?
As we mentioned earlier, Menkes Disease is a genetic disease . That is, it is present at birth. In about two-thirds of cases, it is caused by a faulty gene inherited from the mother . In about one-third of cases, the disease is caused by new mutations in the gene called ATP7A.
The gene that causes this disease is called `ATP7A`, which affects the production of a protein that controls the amount of copper in our body. So when this `ATP7A` gene does not work properly, our body cannot `transport` copper properly.
Boys are more likely to inherit this gene because Menkes Syndrome is an X-linked genetic disorder . Boys have one X chromosome. So if there is a defective gene on it, the disease will develop. Girls have two X chromosomes, so to develop the disease, both defective genes must be inherited.
How do doctors diagnose Menkes Disease?
To diagnose Menkes Disease, the doctor will first examine the child. In particular, they will pay attention to brittle, curly hair . They will also ask about symptoms and family medical history. The child may also be tested for:
- Blood tests: A blood sample is taken to check for low levels of copper, ceruloplasmin (a protein that carries copper), and catecholamines, hormones that help control muscle movement and emotions.
- CT scan or X-ray: This will look for small, twisted bones (wormian bones) in the child's skull. These are caused by problems with the connective tissue caused by a lack of copper.
- Skin biopsy: A very small sample of the child's skin is taken and examined under a microscope to check how well the child's body uses copper.
- Ultrasound: This is used to examine the bladder. Diverticula, which are pouches that protrude from the bladder, are a common complication of Menkes Syndrome.
- Urine test: This test checks for increased levels of certain acids (HVA/VMA) in the urine. The amount of these acids varies depending on the activity of a copper-dependent enzyme.
Can my child have a genetic test for Menkes Disease?
Researchers are still trying to find new ways to detect Menkes disease early. Genetic testing that looks for mutations in the ATP7A gene is one way to do this.
How do doctors treat Menkes Disease?
For treatment to be most effective, it should be started within 25 to 28 days of birth . The success of treatment depends on how severe the mutation in the `ATP7A` gene is.
Doctors give children with Menkes disease a copper substitute called copper histidine as subcutaneous injections . The goal of this treatment is to increase the amount of copper in the blood. It can also help reduce damage to the nervous system, reduce conditions like seizures, and extend the child's lifespan.
How can I manage my child's symptoms?
Because there is still no cure for Menkes Disease, doctors focus on managing symptoms. The medical team treating your child may do things like:
- Prescribing medications to control seizures.
- Enteral nutrition is the feeding of food through a tube to help the child absorb nutrients better.
- Recommending physical therapy or occupational therapy .
- Prescribing pain medications .
What is the future of people with Menkes Disease?
If treatment is not started early, children with Menkes Disease usually live less than three years .
Even with treatment, the symptoms of Menkes Disease can worsen over time. Even boys with the condition who receive treatment may live for 10 years or less.
Can Menkes Disease be prevented?
Unfortunately, Menkes Disease cannot be prevented . If you have a family member or child with this condition, it is important to talk to a doctor and get genetic counseling .
Before you become pregnant, you can have a genetic test (Genetic testing / DNA test) to find out if you have the gene that causes Menkes Disease. This information can help you when planning a family.
When should you see a doctor about Menkes Disease?
If you think your child has symptoms of Menkes Disease, see a doctor immediately . Early detection can improve the quality of life for children with this condition.
Because Menkes Disease is inherited through the X-chromosome, women can have a DNA test to find out if they have the gene that causes the disease. It is a good idea to talk to your doctor about genetic counseling before having children.
If your child has Menkes Disease, talk to your doctor about the best ways to manage symptoms and improve your quality of life. Although there is no cure for Menkes Disease, doctors are working hard to find new ways to diagnose and treat the condition. Also, joining support groups for parents of children with Menkes Disease is a great way to share experiences and find comfort.
The most important things to remember (Take-Home Message)
Okay, so let's summarize some of the things you need to remember from what we've talked about:
- Menkes Disease is a genetic disorder that causes the body to not use copper properly.
- This is more common in boys .
- If your baby's hair is curling strangely, has become light-colored, is loose, or has slowed growth, seek medical advice immediately.
- It is very important to diagnose the disease and start treatment early . It is best if treatment is started within the first 4 weeks of birth.
- Although there is no complete cure, there are treatments to control symptoms and extend life .
- If you have a family history of these diseases, it is wise to seek genetic counseling .
I hope this information is helpful to you. If you have any doubts, it is never too late to talk to a doctor.
` Menkes disease, Copper, Genetic diseases, Pediatric diseases, Nervous system, Curly hair, ATP7A
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