History and exam
Key diagnostic factors
common
headache
Typically worse in morning and gets better during the day (sign of elevated intracranial pressure).[24]
Often relieved by vomiting.
Other diagnostic factors
common
behavioural changes
Very young children may not be able to express how they are feeling, so it will often be the parents/carers who describe changes in their child's behaviour (e.g., irritability, decreased social interaction).
diplopia
Due to sixth cranial nerve weakness.
ophthalmoplegias
Difficulty in lateral gaze may occur from unilateral or bilateral sixth cranial nerve weakness.
bulging anterior fontanelle
Common in children <2 years of age.
Sign of elevated intracranial pressure due to hydrocephalus in an infant, or tumour if >6 months.[24]
papilloedema
Secondary to elevated intracranial pressure.
uncommon
nystagmus
Often occurs late in the presentation or not at all.
head tilt
Usually occurs late in the presentation or not at all.
ataxia
Includes balance difficulty or hand clumsiness.
Usually occurs late in the presentation or not at all.
dysmetria
Usually occurs late in the presentation or not at all.
lethargy
Due to obstructive hydrocephaly. Usually occurs late in the presentation or not at all.
Risk factors
weak
age 1 to 9 years
Peak age of presentation is between 1 and 9 years; however, presentation can occur at any age.[5]
male sex
There is a slight male predominance.[5]
associated inherited familial syndromes
There are reported associations with the following diseases: ataxia-telangiectasia, Rubinstein-Taybi syndrome, Gorlin syndrome (nevoid basal cell carcinoma syndrome), Turcot syndrome, Lynch syndrome/constitutional mismatch repair deficiency, Li-Fraumeni syndrome (TP53 germline mutation), and other germline mutations (BRCA2, PALB2, GPR161, ELP1, CREBBP, and EP300).[13][14][15]
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