Macrocephaly can be simply defined as “large head.” Doctors apply that diagnosis when a baby’s head size is in the 98th percentile. This means that the baby’s head is bigger than 98% percent of other babies of the same age.
Common signs and symptoms include –
• Rapid head growth.
• Bulging veins on your child’s head.
• Developmental delays (not reaching learning milestones).
• A downward gaze of your child’s eyes.
• Firm or bulging spaces between the bones of your child’s skull where bone formation isn’t yet complete.
• Poor appetite.
• Having other conditions along with macrocephaly, such as epilepsy or autism.
• Unusual eye movements
• Unexplained projectile vomiting
• Irritability that gets worse over time
• High-pitched cry like the baby is in pain or discomfort
Genes are responsible for many cases of macrocephaly. Infants with benign familial macrocephaly will not experience symptoms other than a large head.
Other causes of macrocephaly may require investigation and treatment in order to prevent long-term neurological problems and developmental delays.These causes include –
• megalencephaly, an unusually enlarged brain
• hydrocephalus, fluid buildup in the brain
• bleeding in the brain
• thickened bone in the head
• increased intracranial pressure
• brain tumors
• certain metabolic conditions
• some types of infection
• Alexander disease
• Greig cephalopolysyndactyly syndrome
• Sotos syndrome
• chronic hematomas and other lesions
Some specific conditions and possible complications are as follows –
• In cases of megalencephaly, where an infant has an atypically large and usually malfunctioning brain, complications may include delayed development, partial paralysis, seizures, and dysfunction of the brain cortex and spinal cord.
• In cases of hydrocephalus, where cerebrospinal fluid builds up in the brain, complications may include delayed intellectual development and physical disabilities.
• In cases of neurocutaneous disorders, a rare group of disorders involving the nervous system and skin, complications may include an increased risk of seizures and an increased risk of developing certain kinds of tumors.
• In cases of Sotos syndrome, complications may include developmental delays and problems with coordination.
• Before birth
Your healthcare provider can determine if your baby has macrocephaly before they’re born by reviewing the results of routine ultrasound tests done late in your second trimester or early in your third trimester.
• After birth
A pediatrician can diagnose macrocephaly. They will track an infant’s head measurements over time. Your doctor will also perform neurological tests. These can include a CT scan, ultrasound, or MRI to get a better look at the head and brain.
Treatment depends on the underlying cause.
• Macrocephaly associated with genetic causes
Ongoing treatment may be needed, which includes physical therapy, occupational therapy, speech and language therapy, and behavioral therapy.
• Fluid buildup in the brain or brain bleed
Surgery is needed to relieve the fluid buildup or stop the brain bleed.
• Brain tumor
Treatment may include surgery, chemotherapy, radiation and steroids.
If your child has a larger-sized head but has otherwise met normal developmental milestones and a normal neurologic exam, the macrocephaly is often harmless and the outcome is good. No treatment is needed.
If your child has macrocephaly due to an underlying cause, what to expect depends on the specific cause. Your child’s treatment plan will be specialized for them.
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