What's Your Diagnosis? Children With Macrocephaly

Welcome to this month’s What’s Your Diagnosis Challenge!

But before we begin, check to see if you got the previous case on Emergency Department Management of Pediatric Acute Asthma: An Evidence-Based Review right.

Case Presentation: Emergency Department Management of Children With Macrocephaly

A 21-month-old girl presents with 3 days of rhinorrhea and cough…

The parents tell you their daughter has had a runny nose and cough for 3 days, with resolved fever (max, 38.4°C). They recently switched the girl to a new pediatrician and, at their last visit, the pediatrician mentioned the child’s large head size. The mother says she feels that the child’s head has always been larger than that of other children of a similar age, but that they hadn’t thought much of it, since both parents thought their heads were larger than normal as well. Since then, a relative remarked upon the size of their daughter’s head, and now they are more concerned about it and ask you if you think it’s normal.

The girl’s vital signs in the ED are unremarkable, and she does not appear to have other symptoms. The girl is cooperative with your examination and has no focal neurologic deficits. The parents tell you the girl was full term, crawled at 7 months, walked at 12 months, spoke her first words around 13 months, and now has a vocabulary of approximately 40 words. Given the parents’ concer n regarding the child’s head size, you measure her head, which is 50 cm in circumference.

What are your next steps? Are there any bedside examinations that could alleviate the parents‘ concerns about this child’s large head?

Case Conclusion

Because of the parents’ expressed concerns about the girl’s head size, you used the patient’s and parents’ head circumferences to create standard scores, which you plotted on a Weaver curve. The intercept of the 2 lines fell below the 2 standard deviation regression line, indicating a likely benign genetic etiology of the child’s macrocephaly. The child was diagnosed with a viral upper respiratory infection, and her parents were given supportive care instructions and encouraged to follow up with their pediatrician about the child’s head size. At her next appointment with their pediatrician, the pediatrician agreed with your assessment and recommended no referrals or imaging.