Emergency Department Management of Children With Macrocephaly

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Publication Date: August 2023 (Volume 20, Number 8)

CME Credits: 4 AMA PRA Category 1 Credits™, 4 ACEP Category I Credits, 4 AAP Prescribed Credits, 4 AOA Category 2-B Credits. CME expires 08/01/2026.

Author

Peer Reviewers

Abstract

Although the cause of macrocephaly is found to be benign in many cases, the large differential diagnosis includes conditions that can be life-threatening. Prompt recognition and timely diagnosis can lead to a better prognosis in many cases. This issue summarizes the available literature on macrocephaly and provides recommendations for the evaluation, diagnosis, and appropriate disposition of children with macrocephaly in the acute setting. Developmental milestones, “red flags,”and neurologic examination by age are reviewed to help narrow the differential diagnosis and identify underlying etiologies. Guidance is provided for which imaging studies are indicated, and recommendations are given for which children need transfer or admission.

Case Presentations

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’ concern 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?

A 24-month-old boy presents with 2 days of rhinorrhea and cough…

• The boy is currently in foster care for neglect. The toddler has had rhinorrhea and cough for 2 days with resolved fever (max, 38.5°C). The foster parents say he has not had an apparent earache, sore throat, vomiting, diarrhea, or rash. He is tolerating fluids well and has good urine output. The foster family has had care of the child for only 2 days, but notes that the child’s head shape is elongated compared to their daughter’s, who is a similar age. They were not told much about his medical history but were told the head shape might be due to a congenital defect. Though they haven’t had much time to observe him, the patient’s foster family says he can run, climb steps with minimal aid, and that he indicates his needs by a mixture of gestures and words. They understand about half of what he says.
• On examination, you note a thin child with an elongated head. He is in no acute distress. He is cooperative with your examination and has no focal neurologic deficits.
• What are your next steps in evaluating this patient? Should the patient be admitted to the hospital or referred to an outpatient subspecialist?

An 18-month-old girl presents for several weeks of intermittent apparent headache, now with vomiting…

• The girl’s parents say that she has slept through the night since she was 6 months old but has been awakening intermittently at night for the past 3 weeks and will hold her head while she cries. For the past 2 nights, she has had vomiting as well. She has not had fever, rhinorrhea, cough, diarrhea, or rash. There are no sick contacts at home. The patient was full term, crawled at 6 months, walked at 12 months, spoke her first words around 12 months, and now has a vocabulary of approximately 3 words.
• On examination, the patient is noted to have limitation of upward gaze.
• What neuroimaging is most appropriate? What are some interventions you might need to undertake while awaiting definitive treatment?

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