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Children's Health

Miss Shaped and Large Head in Infants

06/27/2011

Question:

I have an 11 month old child. Atbirth his head was normall size with a slight lump on one side.This gradually got worse and more miss shaped,so he was refered to a pediatriion who also said his head size had incresed and was on the large side for a child his age, and the miss shaped head was worse than he would like.He asked for a ultrasound wich was ok,he then requested Ct wich there was something thay wanted to check better so the asked for MRI which came back normall. My sons headis 49.3 cmat 11 months and still very miss shapes head and face,my pediatrition is saying he just wants to keep an eye on it for the next year, but I am very worried as I can see that is not ok.Isthere any thing that the MRI would not show up?

Answer:

What a stressful time for you and your son! I believe your concern is well-founded because of his large head size as well as the ongoing malformation. The misshapen head and asymmetrical facial features commonly signal craniosynostosis, or early fusion of the cranial sutures. As you likely already know, the baby's skull bones are an assembly of bony plates that are not normally fused into a single rigid enclosure for the brain. This is nature's way of helping mothers to birth their infants by allowing the bones to slide over one another and change contour to aid transit out of the uterus through the birth canal. It also accommodates the rapid brain growth that occurs in the first two years of life, also known as the "brain growth spurt period."

Plotting your son's head circumference on a 2000 CDC growth chart for male infants shows his head size to be well above the 95th percentile. This means that few 11-month-old males would have a head size larger than your son's, and your son's head size is much larger than almost all 11-month old males. 

It is certainly reassuring that the cranial ultrasound, CT-Scan, and MRI images appear to be normal. This suggests that there is no underlying structural problem in your son's brain and no build up of fluid in his ventricles compressing his brain tissue. It is also encouraging that you have not mentioned any developmental delays.

However, the fact that the skull deformity and facial asymmetry are persisting and worsening, suggests that there may be an underlying bony problem that has not yet been identified. It is possible for there to be a small bony bridge securing skull pieces together that has not been seen on imaging or that the CT scan was not a three-dimensional CT scan, the gold standard for diagnosing craniosynostosis.

It is possible that he has inherited the gene for macrocephaly, or large head, in which there is nothing abnormal at all in the brain. The child will have a prominent forehead that rounds outward and more fluid than most children have buffering the frontal part of the brain, but that is it. That still does not identify the underlying cause for notable facial and skull asymmetry.

So I would recommend that you ask for a referral or do a self-referral for your son to a pediatric neurosurgeon or neurologist at a good children's hospital near you. These specialists will be able to identify any true cause for concern. Even if it is mainly a cosmetic issue, it is a good idea to learn about what can be done and when it should be done. Sometimes these children simply need a head-shaping helmet. I think this is is the only route left to getting a definitive answer to your concerns and to preventing potential harm to your son's development from an untreated problem that could ultimately limit brain growth and function.

I hope this information proves helpful to you. If you are put on a long waiting list, try another children's hospital or ask your son's doctor to intercede for a quicker appointment. I also hope you find a terrific pediatric specialist who can meet your son's needs and yours quickly.

Medina, L.S. (Ed.) (2010). Evidence-based imaging in pediatrics. San Francisco: Springer.

Legido, A., & Piatt, J.H. (Eds.) (2009). Clinical pediatric neurosciences for primary care. Elk Grove Village, IL: American Academy of Pediatrics.

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Response by:

Mary M Gottesman, PhD, RN, CPNP, FAAN Mary M Gottesman, PhD, RN, CPNP, FAAN
Professor of Clinical Nursing
College of Nursing
The Ohio State University