Olivia, a previously well 13-year-old girl, is referred to the paediatric ED from the Ophthalmology ED.
She went to the optician today to get a new pair of glasses. When they examined her and found that she had enlarged optic discs, they sent Olivia to the ophthalmology ED.
The Ophthalmology SHO agreed and referred Olivia to you. They had explained to Olivia and her parents that she needed urgent neuroimaging as the enlarged optic discs could be a sign of a brain tumour.
Olivia and both parents are now understandably extremely worried.
It’s Friday evening at 8 pm and a Bank Holiday weekend.
Olivia is completely asymptomatic and has a normal examination… except for the fundoscopy findings.
We need to consider…
- What is the likelihood that this is true papilloedema, and does the lack of symptoms affect this risk?
- How can we differentiate between papilloedema and other causes of optic nerve head swelling?
- If she has papilloedema, what is the chance that something sinister is going on, requiring immediate diagnosis and treatment? Does her lack of symptoms change our thinking?
If we can answer these questions, we will be better positioned to provide appropriate care for this family. Perhaps this recent retrospective review provides the best evidence.
Cavuoto KM, Markatia Z, Patel A, Osigian CJ. Trends and Clinical Characteristics of Pediatric Patients Presenting to an Ophthalmology Emergency Department with an Initial Diagnosis of Optic Nerve Head Elevation. Clin Ophthalmol. 2022 May 18;16:1525-1528. doi: 10.2147/OPTH.S366154. PMID: 35611179; PMCID: PMC9124466.
Could this be true papilloedema?
Enlarged optic discs or suspected optic nerve head elevation does not always equate to papilloedema.
50% of the 213 children presenting to a single US Ophthalmology ED had optic nerve head elevation on dilated fundus examination – true papilloedema. This data was collected over a five-year period (2016-2020) had true papilloedema.
Common alternate diagnoses included pseudopapilloedema (32%), optic nerve drusen (8%), optic neuritis (7%), and optic neuropathy (1%).
Interestingly, the child’s gender made a difference. Approximately 75% of patients were biologically female.
Two smaller retrospective reviews (Elhusseiny et al., 2023 and Kovarik et al., 2015) found an incidence of true papilloedema of 25% and 6%, respectively, in children referred to tertiary ophthalmology departments with suspected optic disc swelling.
Does the lack of symptoms decrease the risk?
Typical symptoms of raised intracranial pressure include headache, vomiting, visual disturbance and tinnitus.
27% of the population in Cavuoto’s recent review were asymptomatic at presentation. In those, the incidence of papilloedema was 40% (slightly lower than the total population).
Most children with enlarged optic discs do not have papilloedema. Papilloedema is more likely in females and those with additional symptoms such as headache and vomiting.
Could it be something else?
There are several ways an ophthalmologist can differentiate papilloedema from other causes of optic nerve head elevation. They include fundus autofluorescence, optical coherence tomography, fluorescein angiography, and B-scan ultrasonography.
If there is papilloedema, what is the chance it is due to a sinister pathology requiring immediate diagnosis and treatment?
Cavuoto found that 2% of the overall study population was diagnosed with a brain tumour. There was no other pathology requiring immediate treatment.
The most common diagnosis, affecting approximately 60% of those with papilloedema, was idiopathic intracranial hypertension. Here there is raised intracranial pressure without a space-occupying lesion or hydrocephalus and with normal cerebrospinal fluid (CSF) composition. It does not usually need emergency treatment to relieve symptoms and preserve visual function.
Two smaller retrospective studies (Maheswaran et al. 2020 and Hyde et al. 2019) describe 23% and 13% of children with papilloedema as having significant pathology – an intracranial tumour, hydrocephalus, or intracranial infection.
How does a lack of symptoms affect this risk?
According to Cavuoto, 3% of children with symptoms had significant intracranial pathology requiring immediate intervention. There were no cases in asymptomatic children.
From the limited evidence available, many children with optic disc swelling do not have papilloedema. It is even less likely if they are boys and are asymptomatic.
The most likely diagnosis in children with papilloedema is idiopathic intracranial hypertension. However, some more sinister diagnoses (tumour, hydrocephalus, infection) can occur.
A sinister diagnosis is very unlikely in an asymptomatic child.
What should we do next?
It is vital that we reassure Olivia and her family that the risk of an intracranial tumour is extremely low. After a routine trip to the optician, they’ve suddenly been told that she may have a brain tumour. Our priority is to reassure everyone that a sinister diagnosis is very unlikely.
It is worth discussing with the ophthalmology service how confident they are in diagnosing papilloedema. Then we can discuss if any further investigations could tease out whether this is, in fact, papilloedema or not.
If we can exclude papilloedema, then we can stop. No further investigations should be needed.
If it is papilloedema, then Olivia needs a semi-urgent MRI brain as one of the first-line investigations.
If the MRI does not reveal any pathology, it would be reasonable to arrange a lumbar puncture (with measurement of the opening pressure) to investigate for idiopathic intracranial hypertension in consultation with a paediatric neurologist.
Cavuoto KM, Markatia Z, Patel A, Osigian CJ. Trends and Clinical Characteristics of Pediatric Patients Presenting to an Ophthalmology Emergency Department with an Initial Diagnosis of Optic Nerve Head Elevation. Clin Ophthalmol [Internet]. 2022 [cited 2023 May 14];16:1525–8. Available from: https://pubmed.ncbi.nlm.nih.gov/35611179/
Elhusseiny AM, Fong JW, Hsu C, Grigorian F, Grigorian AP, Soliman MK, et al. Oral Fluorescein Angiography for the Diagnosis of Papilledema Versus Pseudopapilledema in Children. Am J Ophthalmol [Internet]. 2023 Jan 1 [cited 2023 May 14];245:8–13. Available from: https://pubmed.ncbi.nlm.nih.gov/36084685/
Hyde RA, Mocan MC, Sheth U, Kaufman LM. Evaluation of the underlying causes of papilledema in children. Can J Ophthalmol. 2019 Dec 1;54(6):653–8.
Kovarik JJ, Doshi PN, Collinge JE, Plager DA. Outcome of pediatric patients referred for papilledema. J Am Assoc Pediatr Ophthalmol Strabismus. 2015 Aug 1;19(4):344–8.
Maheswaran M, Sai Dheera M, Kumar M, Kowsalya A. Pediatric Papilledema at a Tertiary Care Ophthalmological Center – PubMed. Indian Paediatr [Internet]. 2020 Oct [cited 2023 May 14];10:966–7. Available from: https://pubmed.ncbi.nlm.nih.gov/33089814/