Emergency Department Management of Children With Macrocephaly

Table of Contents

 

About This Issue

While most children with macrocephaly may be identified by their pediatrician, acute care in the emergency department (ED) is sought for many children for unrelated reasons or when there are delays in obtaining appointments with primary care. In many cases, prompt recognition and timely diagnosis can lead to a better prognosis. This issue discusses the evaluation and management of pediatric patients with macrocephaly in the emergency medicine setting, providing an evidence-based framework to recognition, initial assessment, and disposition of the child with a large head. In this issue, you will learn:

Common etiologies of macrocephaly in children

Recommendations for managing increased intracranial pressure and seizures in children with macrocephaly

Key “red flag” milestones, which, if lacking in the setting of macrocephaly, should prompt consideration of an underlying syndrome or condition

Physical examination findings associated with macrocephaly

How to evaluate primitive reflexes and cranial nerve functions in infants

When imaging studies are indicated, and which is the best modality for a particular situation

How to use a Weaver curve to determine if the child head’s circumference is likely due to benign heritable influences

Recommendations for treatment of increased intracranial pressure while awaiting transfer or neurosurgery consultation

The proper disposition for children with various etiologies of macrocephaly

1. About This Issue
2. Abstract
3. Case Presentations
4. Introduction
5. Critical Appraisal of the Literature
6. Etiology and Pathophysiology
   1. Excess Cerebrospinal Fluid
   2. Space-Occupying Lesions
   3. Disorders of the Skull
   4. Megalencephaly and Congenital/Genetic Conditions
7. Differential Diagnosis
8. Prehospital Care
   1. Management of Increased Intracranial Pressure
   2. Management of Seizures
9. Emergency Department Evaluation
   1. History
   2. Physical Examination
10. Diagnostic Studies
    1. Imaging Studies
    2. Laboratory Testing
    3. Weaver Curve
11. Treatment
12. Special Populations
13. Controversies and Cutting Edge
14. Disposition
15. 5 Things That Will Change Your Practice
16. Risk Management Pitfalls for Children With Macrocephaly
17. Summary
18. Time- and Cost- Effective Strategies
19. Case Conclusions
20. Clinical Pathway for Emergency Department Management of the Child With Macrocephaly
21. Tables, Figures and Appendix
22. References

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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Clinical Pathway for Emergency Department Management of the Child With Macrocephaly

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Tables, Figures and Appendix

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Key References

Following are the most informative references cited in this paper, as determined by the authors.

1. * Accogli A, Geraldo AF, Piccolo G, et al. Diagnostic approach to macrocephaly in children. Front Pediatr. 2021;9:794069. (Review) DOI: 10.3389/fped.2021.794069

5. * Bryant JP, Hernandez NE, Niazi TN. Macrocephaly in the primary care provider’s office. Pediatr Clin North Am. 2021;68(4):759-773. (Review) DOI: 10.1016/j.pcl.2021.04.004

6. * Orrù E, Calloni SF, Tekes A, et al. The child with macrocephaly: differential diagnosis and neuroimaging findings. AJR Am J Roentgenol. 2018;210(4):848-859. (Review) DOI: 10.2214/AJR.17.18693

9. * Purugganan O. Macrocephaly. In: McInerny, ed. Textbook of Pediatric Care. 2nd ed. American Academy of Pediatrics; 2016:1506-1509. (Book chapter) DOI: 10.1542/9781610020473

11. Jones S. Macrocephaly. StatPearls. Treasure Island, FL2022. (Book chapter)

21. Tasker R. Elevated intracranial pressure (ICP) in children: clinical manifestations and diagnosis. 2023. UpToDate. Accessed July 1, 2023. (Review)

23. Tasker R. Elevated intracranial pressure (ICP) in children: management. 2023. UpToDate. Accessed July 1, 2023. (Review)

26. * Boom J. Macrocephaly in infants and children, etiology and evaluation. 2023 UpToDate. Accessed July 1, 2023. (Review)

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Keywords: macrocephaly, head circumference, excess cerebrospinal fluid, space-occupying lesions, disorders of the skull, megalencephaly, craniosynostosis, achondroplasia, neurofibromatosis, tuberous sclerosis, neurocutaneous disorder, shunt, hydrocephalus, brain tumor, benign enlargement of the subdural spaces, subdural hematoma, benign familial macrocephaly, leukodystrophy, metabolic disorder, lysosomal storage disease, nonaccidental trauma, NAT, increased intracranial pressure, seizure, herniation, signs of herniation, Weaver curve, occipitofrontal circumference, primitive reflexes, developmental milestones, cranial nerve function