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[How I explore... macrocephaly]
L Vanden Brande1, S Alkan1, C Barrea1
1Service de Pédiatrie, Département de Neuropédiatrie, CHU Liège, Belgique.
Insights
Macrocephaly, an enlarged head in children, can be isolated or indicate serious conditions. Diagnosis involves clinical history, examination, and imaging, with genetics aiding in syndromic cases.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
Background:
- Macrocephaly is a common, non-specific neurological sign in pediatric consultations.
- It can range from isolated findings to indicators of serious acquired pathologies or syndromic conditions.
Framework:
- Clinical assessment forms the cornerstone of the diagnostic strategy for macrocephaly.
- Urgent neuroimaging is indicated when signs of increased intracranial pressure are present.
- Genetic testing, particularly exome sequencing, is increasingly vital for identifying syndromic causes of macrocephaly associated with neurodevelopmental delay.
Implementation:
- This article provides an updated clinical practice guideline for evaluating pediatric macrocephaly.
- Emphasis is placed on integrating clinical signs into the diagnostic pathway.
- The role of advanced genetic techniques in characterizing complex syndromes is highlighted.
Implications:
- Accurate and timely diagnosis of macrocephaly improves patient outcomes.
- Understanding the etiological spectrum of macrocephaly aids in targeted management and genetic counseling.
- This updated approach facilitates the identification of treatable conditions and associated neurodevelopmental concerns.
Abstract:
Macrocephaly is a frequent reason for seeking advice in a pediatric neurology consultation. It is a non-specific neurological sign that can be isolated, be the sign of a serious acquired pathology or be part of a syndromic picture. Clinical history, physical examination and imaging are key elements of the diagnostic strategy. Signs of intracranial hypertension require an emergency work-up. Genetics, exome in particular, has enabled the characterization of various syndromes associating macrocephaly and neurodevelopmental delay. In this article, we propose an update of practices based on clinical signs.
