Vision- and life-threatening neuro-ophthalmological presentations

This article will address three paediatric neuro-ophthalmological presentations which are sight threatening and life threatening in nature. Due to the seriousness of these rare conditions, clinicians need to evaluate them immediately due to their devastating and possibly fatal sequelae.

Their presenting signs and symptoms may be different from those of the presenting adult cohort, so ophthalmologists must not fall into a false sense of security assuming that they will be similar in presentation of either signs or symptoms. A thorough history, extensive multimodal imaging and good differential diagnosis technique will lead to diagnosis by exclusion.

Paediatric Idiopathic Intracranial Hypertension

The current prevalence of paediatric idiopathic intracranial hypertension (IIH) is approximately 1 per 100,000-150,000 with approximately 60 children diagnosed each year in the US.¹ In prepubertal paediatric patients, incidence is the same in males as in females, which is totally different from post-pubertal presentations. Prevalence increases with age. Twice as many children from 12 to 17 years of age are affected than those in the younger range of 2 to 12 years of age.² Obesity does not seem to be a strong association pre-puberty, but is definitely a risk factor post puberty.

In practice, this means that prepubertal children presenting with normal body mass index (BMI), with no higher than average BMI, may have juvenile IIH. Its pathogenesis is unknown; its idiopathic nature is similar to that of the adult cohort with an unknown aetiology (Table 1).³ Current data suggests that IIH in prepubertal children is more likely to be secondary than idiopathic in nature.

A surprising statistic is that, in nearly 50% of cases, there is no papilloedema. Thus, a solid patient history is crucial to diagnosis, as is standard automated perimetry (SAP) (Table 2).⁴ There is an extremely high percentage of visual field (VF) defects among patients with IIH, with 91% presenting VF defects as a sign. In association, approximately 30% of presentations are asymptomatic, in comparison with 10% of adults, which can make diagnosis extremely difficult.

Ultrasound A & B, optical coherence tomography (OCT) and digital retinal photography all tend to be the normal multimodal imaging techniques. Enhanced depth imaging (EDI) OCT is now being seen as the new “gold standard” method for differentiating optic nerve head drusen and papilloedema. This was recently advocated by the Optic Disc Drusen Studies Consortium, an international association of neuro-ophthalmologists. With early diagnosis and treatment, most children with mild to moderate VF defects will have complete resolution of their symptoms.⁴ Studies suggest that IIH is infrequent in children less than 10 years of age and extremely rare in children less than 3 years old. Effective management mimics that of the adult cohort, with non-invasive procedures being preferred initially in conjunction with patient counselling:

• Weight loss
• Acetazolamide (carbonic anhydrase inhibitor)
• Optic nerve sheath fenestration
• Combined medical and surgical options

Depending on the degree of vision loss and threat to future permanent vision loss, invasive procedure(s) may be necessary. Permanent loss of visual acuity (VA) has been reported in up to 10% of juvenile patients with IIH. VF loss persists in up to 17% of patients.³

Juvenile optic neuritis

The two main diagnostic categories for juvenile optic neuritis (ON), a demyelinating condition, tend to be idiopathic/typical, or non-idiopathic/atypical. Causal factors include autoimmune disorders, infections or immunisation. In adults, we would be automatically linking it to suspected multiple sclerosis, neuromyelitis optica spectrum disorder or myelin oligodendrocyte glycoprotein antibody-associated disease.

In the paediatric population it is more commonly associated secondary to immunisation injections, such as the MMR vaccine. Clinicians tend to see a strong divide in the prepubertal group and post- pubertal populations. The incidence rate of prepubertal juvenile ON is equal among male and female patients; the incidence rate is three times higher among female patients in the post-pubertal group.⁵

Juvenile ON is more immune mediated in the paediatric age presentation than other demyelinating conditions, such as multiple sclerosis (Table 3). In children, as many as 85% of cases of juvenile ON are associated with a recent immunisation or an infection, usually a viral infection.⁶

Common history will frequently reveal a flu-like illness preceding the onset of vision loss by around 1 week.⁷ Bilateral involvement may be simultaneous (within 2 weeks) or sequential (2 to 10 weeks). Bilateral involvement is more common in younger children under the age of 10.⁵ Juvenile ON may occur at any age, including among infants younger than 1 year. The mean age of presentation for paediatric ON can range from 9 to 11 years of age.⁶ Most cases of juvenile ON, between 60% to 70%, involve the optic disc with disc oedema, as compared to 35% in adults. In addition, most children present with optic nerve pallor.⁷

Patients are likely to experience decreased VA (with 60% of patients exhibiting VA 6/60)⁶; dyschromatopsia, which patients may describe as a “sense of brightness”⁵ or confusion regarding colors; and relative afferent pupillary defect, which may not occur if both optic nerves are affected. The most common VF defect among this patient group is central or centrocecal, occurring in 50% of cases.⁶ Unlike in adult patients, 73% of patients with juvenile ON exhibit optic nerve swelling.⁷

Investigation of juvenile ON requires MRI scans and lumbar punctures, which may necessitate sedation. Like in adults, the most typical treatment option is intravenous delivery of steroids. Clinicians should be cautioned against the expectation that adult and paediatric presentations will be similar. Instead of looking at the typical triad of signs associated with adult-onset ON, we need to listen to paediatric patients' symptoms more carefully. Instead, look for profound loss of vision, bilateral involvement, optic disc oedema and presence of headaches. Place less emphasis on pain associated with eye movements, which is the hallmark characteristic in diagnosing adults.

Juvenile horner syndrome

Most incidences of Horner syndrome are congenital (developed in the first 4 weeks of life), but the condition may be acquired or hereditary.⁸ Acquired Horner syndrome may result from birth trauma, forceps delivery, vascular malformations or neoplasm, or may have an unknown aetiology. The syndrome is caused by damage or disruption of the nerves connecting the brain, the face and the eyes, and appears as a manifestation of dysfunction in the sympathetic nervous system.

The oculosympathetic pathway is a third-order pathway, comprising three neurons. First-order pathways connect the hypothalamus to the t2 spinal cord; second-order pathways connect the t2 spinal cord, over the lung, to the superior cervical ganglion via the neck; and the third order forms a plexus around the internal carotid artery, innervating the iris and eyelids.⁸

If a patient exhibits symptoms of juvenile Horner syndrome, a chest X-ray may be required to identify where the lesion is occurring. Cross-section imaging of the neck and abdomen is recommended.⁹ Horner syndrome may be a sign of more serious undetected pathology, such as a neck mass. A brain tumour is the most common associated malignant tumour, followed by neuroblastoma.

Not all patients with Horner syndrome present with the typical signs of both ptosis and miosis (Table 4). You may observe pupil miosis without a ptosis. You may see mild ptosis without miosis. These can both be intermittent in nature and presentation. Listen to the parent’s concerns, as these signs may not be present on the day of your examination of the patient. Document the concern, photograph the patient’s in-office condition and ask them to return when signs are present. Seeing previous, older photographs can help establish a diagnosis.

References

1. Friedman DI. Pseudotumor cerebri. Neurol Clin. 2004;22(1):99-131, vi. doi:10.1016/S0733-8619(03)00096-3

2. Ko MW, Liu GT. Pediatric idiopathic intracranial hypertension (pseudotumor cerebri). Horm Res Paediatr. 2010;74(6):381-389. doi:10.1159/000321180

3. Hoyt CS, Taylor D. Pediatric Ophthalmology and Strabismus. 4th ed. Elsevier Saunders; 2012.

4. Fecarotta C. Pediatric idiopathic intracranial hypertension. Rev of Ophthalmol. 2017;24(9):40-43.

5. Yeh EA, Graves JS, Benson LA, Wassmer E, Waldman A. Pediatric optic neuritis. Neurology. 2016;87(9 Suppl 2):S53-S58. doi:10.1212/WNL.0000000000002822

6.Herce H, Sathappan VS, Ing EB, et al. Childhood Optic Neuritis Differential Diagnoses. Medscape. Updated November 2, 2021. Accessed March 25, 2025. https://emedicine.medscape.com/article/1217290-differential

7. Waldman AT, Stull LB, Galetta SL, et al. Pediatric Optic Neuritis and risk of Multiple Sclerosis: meta-analysis of observational studies. J AAPOS 2011;15:441-6.

8. Incidence of Paediatric Horner Syndrome and the risk of Neuroblastoma: a Population based study, Smith S et al Arch Ophthal. 128 (3) 324-329

9. Braungart S, Craigie RJ, Farrelly P, Losty PD. Paediatric Horner's syndrome: is investigation for underlying malignancy always required? Arch Dis Child. 2019;104(10):984-987. doi:10.1136/archdischild-2019-317007

Lorcan Butler, BSc (Hons), MCOptom, Prof Cert Paed Eye Care | E: lorcan.butler@thebraintumourcharity.org

Butler is a dual-trained optometrist and optician in Newtownards, Northern Ireland, and serves as the optical engagement manager at The Brain Tumour Charity in Fleet, England. Butler has no financial disclosures to declare.