Macrocephaly (Symptoms,Causes and Treatment)
When compared to age and gender, a person with macrocephaly has an excessively large head circumference. It could be an independent finding in some instances, but it might also be connected to other symptoms or illnesses in others. A range of genetic or environmental causes can result in macrocephaly, which can be present at birth or develop later in life. Finding the underlying cause of macrocephaly is crucial since it may necessitate more testing or medical attention. Macrocephaly may occasionally be linked to neurological issues or developmental delays.
This article covers the following topics :
Describe macrocephaly.
A medical ailment called macrocephaly is characterized by an excessively large head circumference. Megalencephaly or megalocephaly are other names for it. The majority of the time, macrocephaly is a benign disorder that has no negative effects. But occasionally, it might be a symptom of a more serious illness that needs to be investigated further and treated.
The causes of macrocephaly can range widely. The simple genetic components are a prevalent cause. Children born into certain families are more likely to have macrocephaly since these families tend to have higher head sizes genetically.
The following are additional macrocephaly causes:
*Hydrocephalus: This is a condition in which the cerebrospinal fluid abnormally accumulates in the brain, which can result in an enlargement of the head. Congenital or acquired hydrocephalus can be treated with surgery or a shunt to remove the extra fluid.
*Brain tumors: Some brain tumor varieties might result in an enlargement of the head. Chemotherapy, radiation therapy, or surgery may be used to treat these tumors.
*Neurofibromatosis is a hereditary condition that can result in tumors developing on nerves throughout the body, including the brain. Macrocephaly is one of the signs of neurofibromatosis in children, along with skin abnormalities, bone deformities, and learning difficulties.
*Developmental delays, seizures, and other symptoms are some of the signs and symptoms of Alexander disease, a rare genetic ailment that affects the nerve system. Macrocephaly is one of Alexander’s disease’s distinguishing characteristics.
*Additional conditions: A number of additional uncommon medical illnesses, including Weill-Marchesani syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome, can result in macrocephaly.
The majority of the time, macrocephaly is discovered at birth or during normal infant checks. By measuring the head circumference and comparing it to typical ranges for the child’s age and gender, the diagnosis is made. To identify the source of the macrocephaly, more testing may be required if the head circumference is over the 98th percentile.
The underlying etiology of macrocephaly determines the course of treatment. Sometimes there is no need for therapy because the illness is benign and doesn’t cause any issues. To manage the symptoms and avoid consequences, treatment could be required if there is an underlying medical issue.
It is crucial to consult your healthcare practitioner if you are worried that your child has macrocephaly. They can assess your child and determine whether additional testing or treatment are required.
Is macrocephaly a common condition?
The condition macrocephaly is rather uncommon. Approximately 1 in 1,000 infants are impacted by it. However, depending on the underlying etiology of macrocephaly, the incidence varies. One in 10,000 to one in 25,000 live infants are affected by one of the genetic illnesses linked to macrocephaly, such as Sotos syndrome and Neurofibromatosis type 1. In some populations, such as premature infants, macrocephaly can also be caused by other conditions, such as hydrocephalus.
What macrocephaly signs and symptoms are there?
Macrocephaly, commonly known as the “big head syndrome,” is typically recognized at birth or in the early years of life due to an abnormally large head in relation to the rest of the body. However, depending on the underlying etiology of the disorder, macrocephaly symptoms can change. There may be other physical and neurological symptoms present in some cases, while macrocephaly may be the only symptom in others.
Other physical signs may include a protruding forehead, a bulging or tense fontanelle (the baby’s soft area), and an abnormally quick rate of head growth. A low nasal bridge, widely spaced eyes, and a big jaw are just a few examples of the atypical facial traits or appearance that some persons with macrocephaly may have.
Intellectual disability, seizures, and developmental delays are just a few of the neurological signs and symptoms of macrocephaly that may be present. People who have macrocephaly can also struggle with emotional and behavioral issues like impulsivity, anxiety, and hyperactivity. The intensity of these symptoms can vary widely depending on the underlying cause, and it’s crucial to keep in mind that not everyone with macrocephaly will experience them.
What brings about macrocephaly?
Numerous underlying diseases have been linked to macrocephaly. While some people develop macrocephaly later in life as a result of illnesses or trauma, others are born with it due to genetic disorders or prenatal problems. The reason of macrocephaly may not always be known. The following are a some of the conditions that might result in macrocephaly:
1-Benign familial macrocephaly: This hereditary disorder results in an individual having a larger-than-average head size. Usually, it isn’t harmful and doesn’t result in any other health issues.
2-Hydrocephalus: This disorder develops when the brain has too much cerebrospinal fluid (CSF). Numerous things, such as genetic anomalies, infections, brain tumors, and head injuries, can contribute to its development.
3-Craniosynostosis: This disorder develops when a baby’s skull’s sutures prematurely close, which can lead to the skull’s being deformed and resulting in macrocephaly.
4-Other genetic conditions: Several genetic conditions, including Sotos syndrome, Weaver syndrome, and Beckwith-Wiedemann syndrome, can result in macrocephaly.
5-Tumors: By raising the pressure inside the skull, brain tumors can lead to macrocephaly.
6-Infections: Viral infections, meningitis, encephalitis, and other illnesses that damage the brain can result in macrocephaly.
7-Other medical conditions: Macrocephaly is a sign of a few illnesses, including neurofibromatosis.
It is crucial to remember that macrocephaly can be a sign of major medical problems, therefore anyone with a larger-than-average head size should seek medical attention for a correct diagnosis and course of treatment.
How is macrocephaly determined to exist?
Typically, a physical examination and measurement of the circumference of the skull are used to identify macrocephaly. The head circumference will be measured by a medical professional who will then compare it to a typical growth chart for the child’s age and gender. Macrocephaly may be suspected if the head circumference is larger than the 98th percentile.
Additional diagnostic procedures, including as imaging exams like a CT scan or MRI, genetic testing, or blood tests to look for metabolic or genetic abnormalities, may be required to identify the underlying cause of the macrocephaly. To examine the cerebrospinal fluid, a spinal tap may occasionally be carried out. Depending on the individual situation and the presumed underlying cause of the macrocephaly, specific tests may be ordered.
What do they look like before birth?
In some cases, macrocephaly can be found during normal prenatal ultrasounds before birth. Further diagnostic testing to identify the cause may be advised if the fetus is found to have an abnormally big head size. Genetic testing and imaging tests like MRIs and CT scans are examples of testing.
Not all cases of macrocephaly are discovered before birth, and other cases might not be discovered until after delivery, which is an important point to remember.
Then what do they become?
Macrocephaly can be identified after birth by taking routine measures of the head circumference at well-child examinations. A child may undergo additional testing to identify the cause if their head circumference is persistently bigger than the norm for their age and sex. To help with diagnosis, the medical professional may also search for additional signs and symptoms such neurological abnormalities or developmental delays. Imaging examinations like CT or MRI scans to examine the brain and skull may be performed as additional diagnostics. If a genetic cause of the macrocephaly is suspected, genetic testing may also be advised.
What exactly are neurological tests?
Macrocephaly can be identified after delivery during a regular physical examination, where the doctor may measure the head circumference and contrast it with normative growth charts. A neurologic examination may also be carried out to evaluate the infant’s reflexes, motor abilities, and general development. Additional diagnostic procedures, including as imaging scans, may be prescribed if macrocephaly is suspected in order to ascertain the underlying etiology. These examinations could involve an MRI, CT scan, or ultrasound. Genetic testing might also be suggested in specific circumstances.
What exactly are physical exams?
A healthcare professional will often measure the infant’s head circumference during a physical examination and compare it to normative growth charts. They might also search for any physical traits linked to macrocephaly, such protruding foreheads or bulging fontanelles. The doctor may measure the head as well as conduct a thorough physical examination to look for any additional anomalies or indicators of a disorder that might be the source of the macrocephaly. Additionally, they might ask about any symptoms or potential developmental delays the kid may be having and conduct a thorough medical history. The doctor may recommend more tests or refer the child to a specialist for extra testing based on the exam’s findings.
How do imaging tests work?
Macrocephaly can be diagnosed with the aid of imaging testing. These may consist of:
1-Ultrasound: Ultrasound imaging can be used to assess the shape and size of an infant’s brain and can also be used to identify problems such as hydrocephalus.
2-MRI: Magnetic resonance imaging (MRI) can produce fine-grained images of the brain and assist in identifying the causes of macrocephaly and diagnosing the condition. Adults and children who have macrocephaly are frequently diagnosed using this method.
3-CT scan: To identify macrocephaly and its underlying causes, a computed tomography (CT) scan can also offer detailed images of the brain and skull.
4-X-ray: X-rays can be used to check the skull and ascertain whether the head is expanded as a result of a bone overgrowth.
For a more precise diagnosis in some situations, a combination of these imaging tests may be employed.
What macrocephaly complications are there?
Depending on the underlying cause of the disorder, macrocephaly can have consequences. Macrocephaly could occasionally be a benign finding and not cause any problems. However, in some circumstances, macrocephaly could be linked to underlying illnesses or genetic diseases that could lead to difficulties like:
1-Developmental delays: Children with macrocephaly may experience developmental delays, such as those in the growth of their motor skills, cognitive capacities, and speech and language.
2-Hydrocephalus: A condition known as hydrocephalus, which is characterized by an excess buildup of cerebrospinal fluid in the brain, may be the cause of macrocephaly. Headaches, nausea, vomiting, and seizures can all be signs of hydrocephalus, which can increase pressure on the brain.
3-Intellectual disability: Some hereditary disorders that result in macrocephaly can also result in mild to severe intellectual disability.
4-Behavioral and psychological problems: Children with macrocephaly may be more susceptible to behavioral and psychological problems such anxiety, depression, and attention deficit hyperactivity disorder (ADHD).
5-Vision and hearing issues: Macrocephaly may be accompanied by vision and hearing issues, including hearing loss, amblyopia (lazy eye), and strabismus (crossed eyes).
6-Skull and facial malformations: Macrocephaly may result in abnormal growth of the skull and facial bones, resulting in deformities of the skull and face.
7-Increased risk of injury: Due to their larger skulls, children with macrocephaly may be more susceptible to head injuries.
The severity of consequences can vary depending on the underlying cause of the disorder, and it is crucial to emphasize that not all children with macrocephaly will have them. Complication risk can be reduced with regular check-ups with a healthcare professional and the management of any underlying problems.
How does macrocephaly become treated?
The underlying cause and accompanying symptoms must be addressed before macrocephaly can be treated. If the head size remains steady and there are no additional symptoms, in rare circumstances, no therapy may be required. However, treatment can be required if there is an underlying illness that is causing the macrocephaly or if there are other concomitant symptoms.
For instance, if hydrocephalus caused the macrocephaly, the best course of action might be to surgically implant a shunt to remove extra cerebrospinal fluid from the brain. Monitoring head size and developmental milestones may be sufficient in situations of benign familial macrocephaly. Treatment for conditions with an underlying genetic disorder may involve controlling the signs and symptoms as well as any resulting health issues.
Early intervention therapies, like as physical and occupational therapy, speech therapy, and educational support, may also be beneficial for children with macrocephaly in order to address any associated problems or developmental delays.
It’s critical for people with macrocephaly to visit their doctor on a frequent basis to monitor their head size, any accompanying symptoms, and to make sure that any prompt therapy or interventions are given.
What genetic factors are involved in macrocephaly?
There are various genetic disorders that can cause macrocephaly, and this condition can be inherited. Different inheritance patterns, such as autosomal dominant, autosomal recessive, X-linked, or mitochondrial inheritance, are possible for these diseases.
The following are a few genetic disorders linked to macrocephaly:
1-Neurofibromatosis type 1 (NF1): This genetic condition affects the nervous system and results in the growth of tumors on nerves. Along with additional symptoms like café-au-lait spots, freckling, and learning impairments, macrocephaly is a prevalent characteristic of NF1.
2-Sotos syndrome: A rare genetic condition that results in childhood overgrowth that results in a tall stature, a massive head, and distinguishing facial traits. Additionally, the illness has been linked to intellectual disability and developmental delays.
3-Beckwith-Wiedemann syndrome: A hereditary condition that causes the head and other body parts to expand excessively. Defects in the abdominal wall, a big tongue, and a higher risk of pediatric cancer are some more signs.A collection of genetic diseases known as
4-PTEN hamartoma tumor syndrome (PHTS) can result in the growth of benign tumors as well as a higher chance of developing specific cancers. Some of these illnesses, including Cowden syndrome, have the potential to exhibit macrocephaly as a symptom.Chromosome 21 has an extra copy, which causes the genetic condition known as
5-Down syndrome. Although they frequently have smaller heads at birth, children with Down syndrome are susceptible to developing macrocephaly later in life.
It is significant to remember that not all cases of macrocephaly have genetic reasons; the disorder can also be brought on by other things like hydrocephalus, infections, or tumors.
What is a cerebral hemorrhage or an accumulation of fluid in the brain?
Macrocephaly can be brought on by brain hemorrhage or fluid accumulation in the brain. A disorder called hydrocephalus causes an excessive buildup of cerebrospinal fluid in the brain, which results in a larger head. Congenital hydrocephalus means it exists at birth; acquired hydrocephalus means it appears after birth. A hematoma, which is a buildup of blood in the brain, or a brain bleed, may occasionally be the cause of macrocephaly. This can call for emergency medical attention if it results from head trauma or injury.
A brain tumor is what?
A mass or growth of abnormal cells in the brain is known as a brain tumor. Depending on its size, nature, and location, it can produce a range of symptoms. Headache, seizures, vision, speech, or balance problems, personality or behavior changes, weakness or numbness in the arms or legs, nausea, and vomiting can all be signs of a brain tumor. A brain tumor may occasionally result in macrocephaly (an expanded head circumference) due to increased pressure inside the skull. Surgery, radiation therapy, chemotherapy, or a combination of these treatments may be used to treat a brain tumor.
Is it possible to stop macrocephaly?
Since macrocephaly is typically brought on by genetic or developmental factors, it cannot usually be avoided. However, with early intervention and medical treatment, some disorders that might result in macrocephaly, such as hydrocephalus or brain tumors, might be avoidable or cured. In some circumstances, prenatal genetic testing and counseling can assist in locating and managing hereditary causes of macrocephaly during a subsequent pregnancy. Working together with a healthcare professional is crucial for managing any underlying disorders that might be the root of or exacerbate macrocephaly.
When my child develops macrocephaly, what can I anticipate?
The underlying cause of the illness affects the prognosis for kids with macrocephaly. Macrocephaly is frequently just a physical trait that has no impact on a child’s health or development. However, if an underlying medical issue led to macrocephaly, the prognosis will depend on that disorder’s specifics and the severity of any accompanying symptoms or complications.
A healthcare professional may suggest additional testing and monitoring if macrocephaly is found during pregnancy or soon after birth in order to determine the underlying cause and the best course of therapy. Early detection and treatment in some circumstances can aid in preventing or reducing any associated problems.
Working closely with medical professionals and specialists can help parents of children with macrocephaly make sure that their child is receiving the proper support and care. To monitor for any changes in symptoms or growth, this may involve routine check-ups, imaging studies, and developmental evaluations.
When should I consult a physician about macrocephaly?
If you see that your child’s head size is expanding quickly or if you observe any other symptoms or signs of concerns, such as developmental delays, seizures, or visual issues, you should contact your doctor. Additionally, you should get your kid checked out by a doctor if their behavior changes unexpectedly or if they exhibit any signs of pain or discomfort. It’s crucial to follow up with your doctor on a frequent basis if your child has been diagnosed with macrocephaly in order to monitor their status and make sure they get the right care, should it be necessary.
What distinguishes macrocephaly from megalencephaly?
Medical diseases known as macrocephaly and megalencephaly are both characterized by excessively large heads. There is, however, a slight distinction between the two ailments.
When the skull circumference is more than two standard deviations larger than the average for a child’s age and gender, the condition known as macrocephaly is present. Macrocephaly may develop during infancy or childhood or may be present at birth.
On the other hand, megalencephaly particularly refers to an expansion of the brain itself rather than merely the skull. It is distinguished by a brain size that is unusually enormous and disproportionally larger than the head size. Megalencephaly can be present at birth or develop later in adulthood, similar to macrocephaly.
Although the two illnesses are related, megalencephaly is typically regarded as a more dangerous condition than macrocephaly since it is frequently accompanied by neurological problems like as seizures, developmental delays, and other neurological problems.