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Fifteen-minute consultation on the infant with a large head
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  1. Arnab Seal
  1. Correspondence to Dr Arnab Seal, Leeds Community Healthcare NHS Trust and Leeds Teaching Hospitals NHS Trust, Children's Services, Wortley Beck Health Centre, Ring Road, Lower Wortley, Leeds, West Yorkshire LS12 5SG, UK; arnab.seal{at}nhs.net

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ABSTRACT

An infant with a large head (2.5 SDs above normal for weight and gender or above 99.6th centile for age) is a common clinical presentation. Usually, it is due to benign isolated macrocephaly or familial macrocephaly (FM) where some close family members are similarly affected1; neither condition requires any further intervention. However, there are a few important underlying causes the clinician needs to actively consider and investigate when indicated before reassuring parents. These considerations include whether there is any associated developmental disorder or suggestion of a syndromic association or evidence of raised intracranial pressure (ICP).

Clinical approach

In most instances, a careful history and examination either clarifies the diagnosis; for example, an ex-preterm child developing hydrocephalus. In other instances, it provides pointers for further investigation and management, for example, arranging genetic tests in a child presenting with macrocephaly and multiple cafe au lait spots suggesting the possible diagnosis of neurofibromatosis (NF) Type 1.

The following considerations are helpful.

  1. Is the head …

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