Description

Craniosynostosis (kray-nee-o-sin-os-TOE-sis) is a disorder that is present at birth in which one or more of the fibrous joints between the bones of your baby's skull (cranial sutures) close prematurely (fuse), before your baby's brain is fully formed. Brain growth continues, giving the head a misshapen appearance.

Generally, during the childhood of the sutures remain flexible, allowing the skull of the baby. to expand as the brain grows. In the front part of the skull, the sutures meet at the large fontanelle (fontanel) on the top of the head. The anterior fontanel is the soft spot I felt just behind a baby on the front. The next biggest soft spot is on the back (posterior). To each side of the skull, has a small crown of the head.

Craniosynostosis usually involves the premature fusion of a single cranial suture, but can involve more than one of the sutures in the skull of the baby. (multi-suture craniosynostosis). In rare cases, the craniosynostosis is caused by certain genetic syndromes (syndromic craniosynostosis).

The treatment of craniosynostosis is surgery to correct the shape of the head and allow the growth of the brain. The early diagnosis and treatment allow your baby's brain with enough space to grow and develop.

Although the neurological damage can occur in severe cases, the majority of children develop as expected in your capacity for thinking and reasoning (cognitive development) and have good cosmetic results after surgery. The early diagnosis and treatment is the key.

Symptoms

The signs of craniosynostosis are usually noticeable at birth, but become more evident during the first months of your baby's life. Signs and severity depend on the amount of sutures are fused, and when in the brain development of the fusion occurs. Signs and symptoms may include:

  • A misshapen skull, with the form, depending on the sutures affected
  • Development of a raised, hard ridge along suture affected, with a change in the shape of the head, which is not typical

Types of craniosynostosis

There are several types of craniosynostosis. The majority involve the fusion of a single cranial suture. Some complex forms of craniosynostosis involving the fusion of multiple sutures. Multiple suture craniosynostosis is usually linked to genetic syndromes and is called syndromic craniosynostosis.

The term that is given to each type of craniosynostosis depends on what the sutures are affected. Types of craniosynostosis are:

  • Sagittal (scaphocephaly). The premature fusion of the sagittal suture that extends from the front to the back at the top of the skull forces the head to grow long and narrow. This form of the head is called scaphocephaly. Craniosynostosis sagittal plane is the most common type of craniosynostosis.
  • Coronal. The premature fusion of one of the sutures coronal (unicoronal) that run from each ear to the top of the skull can cause the front to attach on the affected side, and the lump on the side not affected. It also leads to the back of the nose and a raised socket of the eye on the affected side. When both sutures coronal fuse prematurely (bicoronal), the head is short and wide appearance, often with the front tilted forward.
  • Metopic. The metopic suture runs from the top of the bridge of the nose up through the middle line of the front of the anterior fontanel and the sagittal suture. The premature fusion gives the forehead a look triangular and widens at the back of the head. This head shape is also called trigonocephaly.
  • Lambdoid. Lambdoid synostosis is a rare type of craniosynostosis, which consists of the suture lambdoid, which runs along the back of the head. It can cause one side of the baby's head to appear flat, an ear to be higher than the other ear and the slope of the top of the head to one side.

Other reasons for a misshapen head

A misshapen head does not always indicate the craniosynostosis. For example, if the back of the baby's head appears flattened, it could be the result of spending too much time lying on one side of the head. This can be treated with regular changes of position, or if it is significant, with the hull of the therapy (orthotic cranial) to help reshape the head to a greater balance in the appearance.

When to see a doctor

Your doctor will routinely monitor your child's head growth in well-child visits. Talk with your pediatrician if you have concerns about your baby's head growth or shape.

Causes

Often the cause of craniosynostosis is not known, but it is sometimes associated with genetic disorders.

  • Craniosynostosis-syndromic is the most common type of craniosynostosis. Its cause is unknown, although it is thought that they may be a combination of genes and environmental factors.
  • Syndromic craniosynostosis is caused by certain genetic syndromes, such as Apert syndrome, Pfeiffer syndrome or Crouzon syndrome, which can affect a baby's skull development. These syndromes generally also include other physical characteristics and health problems.

Complications

If untreated, craniosynostosis can cause, for example:

  • Permanently deformed head and face
  • Low self-esteem and social isolation

The risk of increased pressure inside the skull (intracranial pressure) from simple craniosynostosis is small if the suture and the shape of the head is corrected surgically. But infants with an underlying syndrome may develop increased intracranial pressure if their skull does not expand enough to make room for the growth of their brains.

If not treated, increased intracranial pressure can cause:

  • Delays in the development
  • Cognitive impairment
  • Blindness
  • Seizures
  • Headaches

Diagnosis

Craniosynostosis requires evaluation by specialists such as a pediatric neurosurgeon or a specialist in plastic and reconstructive surgery. Diagnosis of craniosynostosis may include:

  • Physical exam. Your health care provider feels the head of your baby for functions such as the suture of the ridges, and look for the facial differences, such as unbalanced characteristics.
  • The imaging studies. A computed tomography (CT) or magnetic resonance imaging (MRI) in the skull of the infant may show if the sutures have fused. Skull of ultrasound images can be used. Fused sutures can be identified by their absence, because they are invisible once melted, or for a minimum of the suture line. A laser scanner and photographs can also be used to make accurate measurements of the shape of the skull.
  • The genetic testing. If your doctor suspects that you have a genetic basis of the syndrome, genetic testing may help to identify the syndrome.

Treatment

Mild cases of craniosynostosis may not need treatment. Your health care provider may recommend especially molded helmet to help reshape the head of your baby, if the cranial sutures are open and the head is deformed. In this situation, the molded helmet can help your baby's brain growth and correct the shape of the skull.

However, for most babies, surgery is the primary treatment. The type and timing of surgery depends on the type of craniosynostosis and if there is a genetic basis of the syndrome. Sometimes more than one surgery is needed.

The purpose of the surgery is to correct the shape of the head, to reduce or prevent the pressure in the brain, creating a space for the brain to grow, and improve the appearance of the baby. This involves a process of planning and surgery.

Surgical planning

Imaging studies may help surgeons to develop a surgical procedure in the plan. Virtual surgical planning for the treatment of craniosynostosis uses of high-definition 3D ct scans and mri in the skull of the baby for the construction of a computer simulation, individualized surgical plan. Based on the virtual surgical plan, custom templates are constructed to guide the procedure.

Surgery

A team that includes a specialist in surgery of the head and face (craniofacial surgeon) and a specialist in brain surgery (neurosurgeon) in general, performs the procedure. The surgery can be performed by endoscopic or open surgery. Both types of procedures generally produce very good cosmetic results with a low risk of complications.

  • The endoscopic surgery. This minimally invasive surgery can be considered for infants up to 6 months of age. Early surgery is preferred. The use of a lighted tube and camera (endoscope) that is inserted through small scalp cuts (incisions), the surgeon removes the affected suture to allow the baby's brain to grow properly. In comparison with open surgery, endoscopic surgery has a smaller incision, usually only involves one night of stay in the hospital and usually do not require a blood transfusion.
  • The open surgery. Generally, open surgery is performed for babies older than 6 months. The surgeon makes an incision in the scalp and the bones of the skull, then gives a new shape to the affected part of the skull. The skull position is held in place with plates and screws, resorbable. Open surgery typically involves a hospital stay of three or four days, and a blood transfusion is usually required. Is typically a one-time procedure, but in complex cases, multiple open surgeries are often necessary to correct the baby of the shape of the head.

Helmet therapy

After the minimally invasive surgery, office visits at certain intervals of time are necessary to adapt to a series of helmets to help shape the skull of your baby. The surgeon will determine the length of the hull of therapy that is based on the speed with the way it responds to treatment. If open surgery is performed, usually without a helmet is required after.

Coping and support

When you discover that your baby has craniosynostosis, you can experience a variety of emotions. You may not know what to expect. Information and support can help.

Please keep in mind these steps to prepare yourself and care for your baby:

  • To find a team of trusted professionals. You will have to make important decisions about the care of your baby. Medical centers with craniofacial specialist equipment can provide information about the disorder, to coordinate the care of your baby between the specialists, help you evaluate options and provide treatment.
  • Search for other families. Talking with people who are dealing with similar issues can provide information and emotional support. Ask your doctor about support groups in your community. If a group is not for you, maybe your provider can put you in touch with a family who has dealt with craniosynostosis. Or you may be able to find individual or support group online.
  • Forward to a bright future. Most of the children have adequate cognitive development, and poor cosmetic results after surgery. The early diagnosis and treatment is the key. When necessary, early intervention services can provide assistance with developmental delays or intellectual disability.

Preparing for your appointment

In some cases, your baby's pediatrician may suspect craniosynostosis in a routine visit. In other cases, you can make an appointment because you have concerns about your baby's head in growth. Your doctor may refer you to a specialist for diagnosis and treatment.

Here's some information to help you prepare for your appointment. If possible, bring a family member or a friend with you. A companion of confidence can help you remember the information, and provide emotional support.

What you can do

Before the appointment, make a list of:

  • Any sign you've noticed, such as raised ridges or a change in the way of your baby's face or head
  • Questions to ask your health care provider

Questions could include:

  • What is the most likely cause of my baby's symptoms?
  • There are other possible causes?
  • What kind of evidence does my baby need? Do these tests require any special preparation?
  • What treatments are available, and which do you recommend?
  • There are alternatives to the treatment you are recommending?
  • What are the risks of the surgery?
  • Who is going to perform the surgery if needed?
  • What happens if we chose not to have the surgery now?
  • It will be the shape of the skull affect the operation of my baby's brain?
  • What is the probability of a future for the children to have the same condition?
  • Are there brochures or other printed material I can have?
  • What sites do you recommend?

Do not hesitate to ask questions during your appointment.

What to expect from your doctor

Your health care provider is likely to ask you questions, such as:

  • When did you first notice the changes in the head of your baby?
  • How much time does your baby spend in your back?
  • In what position does your baby sleep?
  • Has your baby had any seizures?
  • It is the development of your baby in the schedule?
  • Were there any complications during pregnancy?
  • Do you have a family history of craniosynostosis, or genetic conditions such as Apert syndrome, Pfeiffer syndrome or Crouzon syndrome?

Your doctor will ask additional questions based on your responses. Prepare and anticipate the questions will help you get the most out of your appointment.

Symptoms and treatment of Craniosynostosis