JICNA^R○| Journal of the International

Child Neurology Association

A peer reviewed open access e-journal in Child Neurology

Optic neuritis associated with chronic inflammatory

demyelinating polyneuropathy in a child - a case report

Nigel Colin Griffith¹, Pinki Munot², Matthew Pitt³, Katrina Prise¹, Dorothy A Thompson

¹,

Richard Bowman¹

¹Clinical and Academic Department of Ophthalmology,²Dubowitz Neuromuscular Centre,

³Department of Neurophysiology, Great Ormond Street Hospital for Children, London, UK WC1N 3JH

Corresponding author: Nigel Colin Griffith; Email: nigelgriffith@gmail.com

https://doi.org/10.17724/jicna.2019.127

Received: 09 Jan 2018

Accepted: 31 May 2019

Abstract

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an autoimmune disorder predominantly affecting the pe-

ripheral nervous system (PNS), characterised by muscle weakness and sensory disruption which may involve all four

limbs[1]. CIDP affecting children is uncommon, with a large scale review in 2013 noting 143 documented cases described

in the literature [2]. Central nervous system involvement has previously been described; however, optic neuropathy is an

extremely rare manifestation of CIDP, with only a small number of cases previously reported (both unilateral and bilateral)

in adult patients [3, 4, 5]. This report details a child who developed optic neuropathy in association with CIDP.

Kewords: Chronic inflammatory demyelinating polyneuropathy (CIDP), Optic neuritis.

and fingers, loss of movement in ankles and toes in addition

Case Report

to absent knee, ankle and biceps reflexes. Lumbar puncture

A previously fit and well 11-year-old boy presented with

and blood tests were negative for ANA (antinuclear antibod-

lower limb weakness, noting that ‘footballs are harder to

ies), ANCA (anti-neutrophilic cytoplasmic autoantibodies),

hit’. He noticed this following a minor right foot injury sus-

ganglioside antibodies, VLCFA (very long-chain fatty acids),

tained playing football at school. His symptoms progressed

serum electrophoresis, white cell ubiquitone, and heavy

and he developed bilateral lower limb pain on movement.

metals. Leukocyte enzymes, in addition to serum/urine

He attended his local hospital where he was diagnosed with

GAMT (guanidinoacetate methyltransferase) and purines,

a non-specific sports-related injury and discharged.

were all normal.

A month later, he developed episodic headaches, reduced

EMG

(electromyography) nerve conduction studies

mobility, an unsteady gait, frequent falls and slurred speech.

demonstrated severe demyelinating sensorimotor polyneu-

He was admitted to hospital for further investigations. MRI

ropathy in keeping with chronic inflammatory demyelinat-

(magnetic resonance imaging) scans of his brain and spine

ing polyneuropathy (CIPD), with likely bulbar involvement

were reported as normal. Blood tests (renal and liver func-

based on the clinical history. Contrast MRI scans of the brain

tion test, C-reactive protein, glucose, HIV, Hepatitis B and

and spine demonstrated newly identified thickening and en-

Hepatitis C) were essentially normal; an ESR (erythrocyte

hancement of bilateral cranial nerves II, V, VII and cauda

sedimentation rate) of 70 and a mild microcytosis were

equina nerve roots, in keeping with CIDP (Figure 1 & Figure

noted, although his Hb and differential blood cell counts

2). During this admission, he complained of ‘blurry’ right

were normal. He was subsequently referred to the child and

eye vision, but eye examination demonstrated normal extra-

adolescent mental health service.

ocular motility, normal colour vision (Ishihara plates) and

He continued to deteriorate, developing weakness in his

normal disc appearances bilaterally. Left eye VA (visual acu-

hands and swallowing difficulties. He lost ambulation, re-

ity) was normal at 0.0 (LogMAR), but his right eye VA was

quiring assistance to transfer and mobilise indoors. Exami-

subnormal at 0.3 (LogMAR) and a right infero-temporal vi-

nation showed bilateral horizontal nystagmus on abduction,

sual field defect was identified by confrontation visual field

past-pointing, intention tremor, reduced power in hands

testing.

Figure

Post-contrast T1

weighted sagittal spine imaging

Figure 2 Axial and coronal enhanced brain images

demonstrates surface thickening and enhancement of the conus

demonstrate cranial nerve thickening and enhancement involving

medullaris and the nerve roots of the cauda equine.

cranial nerves III (A), V (B and C), VII and VIII (D).

He commenced IVIG (intravenous immunoglobulin) with

mology clinic review at this time found the right eye VA had

a significant improvement in limb power and mobility noted

deteriorated to ‘no perception of light’ and the left eye VA

over the following seven days; however, his progress slowed

had deteriorated to 0.3 (LogMAR). The right-sided RAPD

after this period. Two months later he presented to an oph-

remained. Some temporal pallor of the left optic disc was

thalmology outpatient clinic complaining of a significant de-

noted. Kinetic perimetry showed an inferior field deficit in

terioration in his right eye vision. On examination, his left

the left eye. Over the next two months there was a clini-

eye VA measured 0.06 (LogMAR), but his right VA had de-

cal improvement in his right eye vision, with right eye VA

teriorated to light detection in all four quadrants only, with

0.6

(LogMAR), but he complained of a further deterioration

a right RAPD (relative afferent pupillary deficit). Discs re-

in his left eye vision, VA 0.58 (LogMAR). VA of either eye

mained normal in appearance. He underwent a brain MRI

did not improve with a pinhole which excludes uncorrected

which again demonstrated enhancement of cranial nerves

refractive error. Colour vision tests were reduced bilater-

III, V, VII and VIII, but this was not significantly different

from the previous MRI. Although clear optic nerve involve-

ment was not demonstrated on MRI, the visual electrophysi-

ology findings at the time showed marked, generalised post-

retinal, visual pathway dysfunction, affecting the right eye

pathway more than that of the left eye. Indeed, flash and

pattern VEPs (visual evoked potentials) from the right eye

were non-detectable. From the left eye, the flash VEP was

Figure 3 Spectralis OCT images week 40. The 3D plots show

markedly small, but a near normal pattern VEP from the

some bilateral optic disc swelling, LE more than RE.

left eye showed preservation of the left eye’s macular path-

way. The PERG (pattern electro-retinogram) p50/n95 am-

plitude ratios from either eye were normal. This indicated

ally, but he was more confident with his right eye. A left

normal retinal ganglion cell function for each eye, and lo-

relative afferent pupillary defect was identified. Both discs

calised the site of dysfunction to post-retinal ganglion cell

were recorded as normal. Repeat electrophysiology testing

axons that form the optic nerve. In view of his slow over-

showed reduction in PERG N95 amplitudes of each eye, in-

all progress with IVIG therapy over the next weeks, he was

dicating involvement of the retinal ganglion cells bilaterally.

started intravenously on methylprednisolone. An ophthal-

The left eye PVEPs (pattern visual evoked potentials) had

deteriorated with significantly increased latency in keeping

tinues to have some motor deficit in his foot muscles, such

with conduction dysfunction (e.g. P100’ to 100’ checks @

that ankle dorsiflexion remains sub gravity. He is otherwise

153 ms), yet PVEPs from the right eye showed some re-

independent in most of his daily activities. He remains on

covery, albeit being slightly delayed (P100’ to 100’, 50’

25’

monthly IVIG and oral prednisolone, but continues to show

checks @ 120 ms) with a small amplitude.

slow and steady improvement.

Over the next three months his right vision continued to

improve, but his left vision continued to deteriorate with

VAS (visual acuity score) in the right eye being 0.12 and the

left eye 1.40 (LogMAR). He continued to undergo close ob-

servation, in addition to receiving treatment with 50mg of

prednisolone once daily, with lansoprazole for gastric pro-

tection. Visual electrophysiology, repeated one year after

his first admission, showed some recovery of retinal gan-

glion cell function bilaterally with larger PERG amplitudes

and improved P50/N95 ratios. The right eye PVEP had im-

proved slightly, but the left eye pattern and flash VEPs had

deteriorated further.

Two months later, right vision had improved to normal

levels with the right eye -0.06(LogMAR) and there was

some slow improvement in the left vision, with the left eye

0.44(LogMAR), with temporal pallor of the left optic disc.

Serial OCT of the optic discs showed infero-temporal thin-

ning of the peripapillary retinal nerve fibre layer (RNFL),

which slowly progressed between July 2015 and May 2017

Figure 5 The changes of monocular high contrast LogMAR VA is

(Figure 3 & Figure 4).

plotted over time, black RE and red LE. [for reference LogMAR 0

= 6/6 =20/20 VA, and LogMAR 2 here depicts NPL]

Discussion & Conclusion

Optic neuritis in association with CIDP is an uncommon phe-

nomenon. To the best of the authors’ knowledge, despite

previous case reports detailing this manifestation in adult

patients, this is the first case to be described in a paediatric

patient. However, McMillian et al., 2013 [2] make note of

the difficulty in obtaining reliable sensory imaging in the

majority of paediatric CIDP patients given their young age,

and this may therefore lead to a failure to identify affected

patients who do not present with overt clinical symptoms.

The recovery of right eye vision from NPL to -0.06 (Log-

MAR) was remarkable, but the recovery was protracted over

Figure 4 The RNFL thinning noted bi-temporally progressed

a 12-month period. In spite of recovery of the central visual

between weeks 40 and 104, highlighted changing from yellow to

field, i.e. the macular pathway function, there was flash VEP

red.

evidence of bilateral generalised pathway dysfunction. Dur-

ing a one-year period of ophthalmic surveillance, right and

In May 2017 his VA was right eye -0.1 and left eye 0.1

left post-retinal macular pathways were asynchronously in-

(logMAR) with temporal disc pallor and left eye RAPD (lon-

volved. Although no evidence of optic neuritis was seen

gitudinal change in VA shown in (Figure 5). PERGs showed

on MRI, the PERGs and PVEPs suggested optic neuritis,

bilateral retinal ganglion cell dysfunction. PVEPs from the

and negative MRI findings have previously been reported

right eye were stable and from the left eye were improved,

in adult cases. It is uncertain whether the systemic treat-

but showed evidence of macular pathway dysfunction af-

ment altered the relative severity of the left eye pathway

fecting the left more than the right eye pathways.

involvement of the right eye.

During this time the patient’s motor function has signif-

The PERG N95 is a sensitive measure of ganglion cell

icantly improved. He is now independently ambulant and

function in the retina. Preservation of N95 in cases of optic

has returned to playing football. His hand function has also

neuritis is taken as a good prognostic indicator of visual re-

improved, but not returned to full strength as yet. He con-

covery. The right eye PERG N95 was normal even when the

REFERENCES

right eye PVEP suggested optic neuritis, presumably because

Cite this article as:

the retinal ganglion cells were still functioning normally at

Griffith, N. C., Munot, P., Pitt, M., Prise, K., Thompson, D.

the retinal end of the cell and the dysfunction was retrob-

A. and Bowman, R. (2019) “Optic neuritis associated with

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chronic inflammatory demyelinating polyneuropathy in a

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child - a case report”, Journal of the International Child Neu-

neuritis, this observation usually indicates irreversible gan-

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glion cell dysfunction before optic atrophy is manifest. Atyp-

ically in our case, the PERG P50/N95 amplitude ratio recov-

ered, as did right eye VA. The PERGs were altered during

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The authors have declared that they have no competing in-

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Author contributions

All the authors contributed to data collection and also crit-

ically reviewed the manuscript. The final version of the

manuscript was approved by all the authors.

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