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 Brook Health Eye, Ring Route, Lower Wortley, Leeds, West Yorkshire LS12 5SG, United kingdom; arnab.seal{at}nhs.cyberspace

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  • Paediatric Practise
  • General Paediatrics
  • Growth

Abstract

An babe with a large head (2.5 SDs above normal for weight and gender or to a higher place 99.6th centile for age) is a common clinical presentation. Usually, it is due to benign isolated macrocephaly or familial macrocephaly (FM) where some shut family members are similarly affected1; neither status requires any farther intervention. However, there are a few important underlying causes the clinician needs to actively consider and investigate when indicated earlier reassuring parents. These considerations include whether there is whatsoever associated developmental disorder or proposition of a syndromic association or evidence of raised intracranial force per unit area (ICP).

Clinical arroyo

In most instances, a conscientious 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 case, arranging genetic tests in a child presenting with macrocephaly and multiple buffet au lait spots suggesting the possible diagnosis of neurofibromatosis (NF) Type 1.

The following considerations are helpful.

  1. Is the head actually large? The clinician should accurately measure and plot occipito-frontal circumference (OFC) using appropriate non-stretch tape measure. The OFC extends from the most prominent part of the glabella to the nigh prominent posterior area of the occiput or the largest measureable circumference. The OFC can be affected by thick pilus and cranial os deformations or hyperostosis. Height and weight should be plotted simultaneously as the OFC may be inside normal centiles, but significantly discordant with body growth. If OFC is within normal centiles, but the head seems apparently large, then consider late intrauterine growth retardation, skeletal dysplasias for case, osteogenesis imperfecta, and conditions causing frontal bossing, for example, rickets.

  2. Are in that location whatsoever serial measurements? Oftentimes the birth OFC and subsequent measurements are available from neonatal records and parent-held kid health surveillance records. Is the OFC crossing centiles upwards? This does non necessarily signal a pathological cause as it may occur in benign FM/megalencephaly only should raise concern regarding raised ICP.

  3. Are there any high-hazard factors that are known to exist associated with underlying causes of a large head in infancy? Encounter box 1.

  4. Are there any signs or symptoms of raised ICP? See table 1. If there is clinical suspicion of raised ICP, then proceed to neuroimaging, preferably MRI Brain. It is worth noting that all the signs and symptoms outlined are not always present.

  5. Is there any history of developmental delay/disorder, seizures, loss of skills, behavioural alter or neurological problem in the child? Accept a specific developmental history and check developmental levels. Beware of the 'smiley child' who appears 'brilliant' simply is not doing much. Remember, responsive social smile is accomplished past vi–8 weeks age!

  6. Measure parental and family unit (sibling, grandparents) caput sizes where possible and plot on advisable charts. The commonest cause for a big caput is FM. If the child has no neurological symptoms or signs, has normal development, no signs of raised ICP, has normal systemic test and the OFC is not climbing centiles, then reassure carers. If the OFC is crossing centiles, it nonetheless can be FM, just rule out raised ICP past neuroimaging. DeMyer'southward criteria for diagnosis of FM are absence of evidence of a syndrome, normal radiographic study of the brain and a parent or sibling with macrocephaly, or macrocephaly that can be traced through several generations.2 Discuss the diagnosis with the family and put a 'prophylactic net' of symptoms and signs of raised ICP, seizures, learning delay or developmental concerns for carers to monitor.

  7. A thorough test specifically looking for any known causes of macrocephaly (see figure ane)

    • dysmorphism

    • unusual growth patterns, for case, increased growth in Soto's Syndrome

    • neurocutaneous signs, for example, NF- one, Tuberous sclerosis

    • coarse facies or any signs of storage disorders similar mucopolysaccharidoses

    • full neurological examination including checks for focal deficits, co-ordination and fundus exam

    • signs of raised ICP (see Box ane). Neuroimaging will usually identify the crusade of raised ICP, for case, hydrocephalus, intracranial space occupying lesions (expanding cysts or tumours) or subdural collections

    • hepatosplenomegaly suggesting storage disorders or haematological disorders, for example, thalassemias

View this tabular array:

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Table one

Signs and symptoms of raised intracranial pressure level (ICP) in infancy

Box 1

Conditions associated with higher risk of presenting with a large head in infancy

  • History of other immediate family member/s having asymptomatic big head

  • Ex-preterm baby with history of intraventricular haemorrhage

  • Previous history of subdural bleeding

  • Neonatal meningitis

  • Presence of non-cranial built anomalies can increase run a risk of brain anomalies and/or hydrocephalus, for example, spina bifida

  • Family history of genetic syndromes associated with macrocephaly for example, neurofibromatosis blazon 1

  • Relevant family history of developmental problems, for example, autism or learning inability

Causes (see figure 1): The aetiology of macrocephaly can be divided into genetic and non-genetic causes.3

Management: Follow the algorithm in figure two from A to E to investigate and manage accordingly.

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