What is macrocephaly?
The definition of macrocephaly, which literally means big head, is when a person's head is larger than other people of the same age and gender. Technically, it is when the widest part of a person's head is larger than 97% of the head. Macrocephaly is not always a sign of a bad situation. Therefore, no treatment is applied. This condition is called benign familial macrocephaly.
Diagnosis of macrocephaly
Macrocephaly can be detected before birth or after birth. The tests administered in both periods differ.
Before birth
The diagnosis of macrocephaly before birth requires a gestational age of 6 years. He/she must complete his/her month. Macrocephaly can be diagnosed by examining the results of routine ultrasound tests performed during this period, which coincides with the end of the second trimester and the third trimester.
After birth
Head circumference should be measured regularly during the first five years of life. In the light of these measurements, the head size is compared with the expected growth table. The mindsets of parents and grandparents should also be taken into account in this assessment. If macrocephaly is diagnosed as a result of these evaluations, the underlying cause should be determined.
This requires a neurological and physical examination.
Neurological examination
The stages of neurological examination applied to children to understand the underlying cause of macrocephaly diagnosis are as follows.
- Asking various questions and conducting tests to determine the child's development
- Determining whether the child has any head trauma or nervous system trauma
- Determining whether you have had any infections during pregnancy
- Determining whether the baby has had any infections such as meningitis after birth
- Whether the child has vomiting
- Whether there is a headache
- Whether the child has become more irritable over time
- Whether there is a history of seizures
Physical examination
If macrocephaly is found in children, the underlying cause can be determined with some physical examinations. Measurement of the head circumference is the most important of these examinations. In addition, physical tests applied to children include the following.
- There are gaps between the bones of the skull so that babies can pass through the birth canal comfortably. These gaps should be closed by the time babies are 18 months old. However, large, full and intact cavities that do not close during this time are considered a sign of increased cranial pressure.
- Large veins in the baby's scalp. This is considered a sign of increased blood pressure in the blood vessels of the brain.
- Downward shift of the baby's eyes
- Lack of weight gain
Imaging tests
Some imaging methods are also used to understand the cause of macrocephaly in children. These imaging methods include the following.
- Ultrasound is requested first. Because ultrasound does not contain radiation and is a quick and easy method. The fact that the fontanel, especially in the front, does not close makes it easier to visualize.
- Computed tomography allows changes in brain tissue to be visualized. Computed tomography is preferred when ultrasound cannot provide sufficient information due to radiation emission.
- Rapid magnetic resonance imaging is an imaging option that does not require sedation. It is used to detect excess fluid in the child's brain.
Causes of macrocephaly
Causes of macrocephaly can be harmless or can be harmful to the child's health. Harmless causes are also called benign familial macrocephaly, where there are people in the child's family with a similar skull structure.
On the other hand, there are other variables that can cause macrocephaly. Some of these causes are congenital, while others may be due to changes over time. These situations include the following.
- Megalencephaly, which can be explained as an enlarged brain
- Accumulation of fluid in the brain, called hydrocephalus
- Brain hemorrhages, including arteriovenous hemorrhages
- Brain tumor
- Overgrowth of the skull bones
- Chronic and prolonged hematomas
- Meningitis
- Encephalitis
- Abscess
- Achondroplasia
- Fragile X syndrome
- Neurofibromatosis type 1
- PTEN hamartoma tumor syndrome
- Gorlin syndrome
- Greig cephalopolisyndactyly syndrome
- Genetic disorders
- Increased intracranial pressure
Symptoms of macrocephaly
Symptoms seen in children with macrocephaly include the following.
- Rapid head growth
- Swelling of the veins in the scalp
- Developmental delays
- Downward gaze in the eyes
- Swelling and stiffness between the bones of the skull while bone formations are still being completed
- Loss of appetite
- Epilepsy
- Autism
Macrocephaly treatment methods
Treatment of macrocephaly depends on the causative factor.
Benign familial macrocephaly and benign enlargement of the subarachnoid space (BESSI)
In these cases, children should be checked for neurological conditions and for meeting developmental milestones. If the child does not have any problems, it is most likely a genetically inherited condition for which no treatment is needed.
The occurrence of BESSI in children is also defined as benign. Children with this condition have spinal fluid in some parts of their brains, but it does not cause any harm and resolves on its own. Therefore, treatment is not needed.
Macrocephaly due to genetic causes
If macrocephaly has genetic causes, children may need ongoing treatment. This includes occupational therapy, physical therapy, speech and language therapy and behavioral therapy.
Fluid accumulation in the brain or cerebral hemorrhage
Macrocephaly due to fluid accumulation in the brain or bleeding requires surgery. This may help to drain some of the fluid or stop the bleeding.
Brain tumor
Many different methods are used to treat brain tumors. These include surgical methods, radiation therapy, chemotherapy and steroid drugs.
The difference between macrocephaly and hydrocephalus
Macrocephaly is a condition in which the head circumference is larger than normal. There are many different reasons why this can happen. One of these causes is hydrocephalus. As a result of hydrocephalus, patients may have enlarged head circumference.
The difference between macrocephaly and hydrocephalus is that the term macrocephaly refers to a larger framework. Although there are many causes of macrocephaly, hydrocephalus is caused by excess fluid accumulation in the ventricles, which are located deep in the brain.
Types of macrocephaly
Macrocephaly is basically divided into two types. There are also two subtypes.
Benign macrocephaly
Benign macrocephaly, also called primary macrocephaly, is often a finding specific to craniofacial syndromes. This group also includes familial cases in which no other findings were observed.
Malignant macrocephaly
In this type, also called secondary macrocephaly, there is another disease finding and complication.
In addition, macrocephaly is divided into two subtypes. Among these species are the following.
Proportional macrocephaly
In the proportional type of macrocephaly, the child's skull and physical structure are compatible with his or her age. This is usually seen in the presence of a late or non-closing suture or excessive secretion of growth hormone.
Disproportionate macrocephaly
In this type, the child's skull size is larger according to age and physical characteristics. In advanced cases, brain enlargement may also occur. In addition to physical and cognitive retardation, these children may also have conditions such as epilepsy.
