Macrocephaly (Infant with large head)
History:
Specific:
– Acutely unwell? raised ICP?
– Preceding illness?
– Onset, duration and progress
– Fontanelle- ever present? when closed?
Other enquiries:
– Seizures / altered consciousness?
– Any developmental concerns?
– Any regression?
– Birth events- prematurity?
– Any neonatal complications?
– F/H/O neurometabolic disease?
Examination:
– Plot OFC & parent’s OFC
– Raised ICP? Bulging fontanelle?
– Hydrocephalus (sunset eyes, dilated scalp veins)?
– HEENT- cataracts / fundus / AF open?
– Is head symmetrical?
– Any dysmorphism? esp midline deformities
– Any neurocutaneous signs? Woods lamp?
– Full neurological assessment
Spasticity? abnormal tone? reflexes?
– Developmental assessment
– Hepato-spleenomegaly?
Investigations to consider:
Neuroimaging:
– CrUSS, MRI Brain
– Consider Skull Xray, CT Head
Selectively:
– Genetic screen?
– Neuro metabolic tests?
– US abdominal / ECHO etc?
Management:
Control raised ICP
– Mannitol / Acetzolamide
– Serial ventricular taps / LPs
– Neurosurgery for Ventricular reservoir, VP Shunt, etc
Other:
Treat seizures, spasticity, etc
Manage Metabolic disorder
Support developmental care