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1/ Happy Thursday! Here is an interesting Pediatric Neurology #MedTweetorial case. A 12 y/o female presents to the office with visual concerns. 3 days ago, her right eye became progressively blurry and she began to have red color desaturation 2 days later. #FOAMed
2/ Starting this morning, she noticed blurriness in her left eye. She states her vision is becoming progressively worse since symptom onset.
She denies headache, eye pain, nausea, vomiting, recent illness, fever/chills, and any other neurological deficit.
She denies headache, eye pain, nausea, vomiting, recent illness, fever/chills, and any other neurological deficit.
3/ Past medical, Surgical, Social, and Family Hx: unremarkable.
On Physical Exam:
Vitals/PE: WNL
Neuro: PERRLA, EOMI. No papilledema on fundoscopic exam. Able to count fingers in all visual fields. She states blurriness R>L. Intact peripheral vision. Red desaturation on the R.
On Physical Exam:
Vitals/PE: WNL
Neuro: PERRLA, EOMI. No papilledema on fundoscopic exam. Able to count fingers in all visual fields. She states blurriness R>L. Intact peripheral vision. Red desaturation on the R.
4/ Our next diagnostic steps:
Brain MRI and orbits w/ contrast
Serum labs (anti-AQP4 antibodies, anti-MOG antibodies)
LP (opening pressure, cell count, oligoclonal bands)
Urgent ophthalmology referral
Brain MRI and orbits w/ contrastSerum labs (anti-AQP4 antibodies, anti-MOG antibodies)LP (opening pressure, cell count, oligoclonal bands)Urgent ophthalmology referral
5/ Diagnostic workup results:
+ anti-MOG immunoglobulins
Bilateral enhancement of optic nerves on MRI
DX: MOG-Ab-Associated Neuromyelitis Optica Spectrum Disorder
+ anti-MOG immunoglobulinsBilateral enhancement of optic nerves on MRIDX: MOG-Ab-Associated Neuromyelitis Optica Spectrum Disorder
6/ Neuromyelitis Optica Spectrum Disorder (NMOSD)
Previously known as Devic Disease
Inflammatory Disorder of the CNS: immune-mediated demyelination and axonal damage
Predominantly affects optic nerves and spinal cord
https://www.uptodate.com/contents/neuromyelitis-optica-spectrum-disorders?search=neuromyelitis%20optica%20spectrum%20disorders&source=search_result&selectedTitle=1~31&usage_type=default&display_rank=1
Previously known as Devic DiseaseInflammatory Disorder of the CNS: immune-mediated demyelination and axonal damagePredominantly affects optic nerves and spinal cordhttps://www.uptodate.com/contents/neuromyelitis-optica-spectrum-disorders?search=neuromyelitis%20optica%20spectrum%20disorders&source=search_result&selectedTitle=1~31&usage_type=default&display_rank=1
7/ Clinical Features
Optic Neuritis: majority unilateral but bilateral or sequential in rapid succession is highly suggestive of NMOSD
Transverse myelitis: generally 3 or more vertebral segments affected
Brainstem syndromes: N/V, hiccups
Peds: encephalopathy, seizures
Optic Neuritis: majority unilateral but bilateral or sequential in rapid succession is highly suggestive of NMOSDTransverse myelitis: generally 3 or more vertebral segments affectedBrainstem syndromes: N/V, hiccupsPeds: encephalopathy, seizures
8/ Diagnosis
MRI brain (+/- orbits and spinal cord) with contrast
AQP4-IgG and anti-MOG serum antibody
LP and CSF analysis
Optical coherence tomography
MRI brain (+/- orbits and spinal cord) with contrastAQP4-IgG and anti-MOG serum antibody LP and CSF analysisOptical coherence tomography
9/ NMOSD has the disease-specific serum AQP4-IgG antibody
Unlike MS, necrosis following inflammation involves both gray and white matter
NMOSD also includes a subset of patients with anti-MOG antibody
MOG positive disease typically has a wider spectrum of disease phenotype
Unlike MS, necrosis following inflammation involves both gray and white matterNMOSD also includes a subset of patients with anti-MOG antibodyMOG positive disease typically has a wider spectrum of disease phenotype
10/ Differential Diagnosis
MS
ADEM
Other autoimmune syndromes: SLE, Sjogren's, neuro-Behcet, sarcoidosis, NMDA-receptor encephalitis
Other etiologies that extensively involve the spinal cord: tumors, vascular, metabolic, radiation, viral infections
MSADEMOther autoimmune syndromes: SLE, Sjogren's, neuro-Behcet, sarcoidosis, NMDA-receptor encephalitis Other etiologies that extensively involve the spinal cord: tumors, vascular, metabolic, radiation, viral infections
11/ Pathophysiology:
NMOSD thought to be primarily mediated by humoral immune system (unlike MS: mostly cell-mediated)
MOG-Ab present in 50% of children at symptom onset
MOG-Ab disease more likely to involve optic nerve > spinal cord and have bilateral optic neuritis
NMOSD thought to be primarily mediated by humoral immune system (unlike MS: mostly cell-mediated)MOG-Ab present in 50% of children at symptom onsetMOG-Ab disease more likely to involve optic nerve > spinal cord and have bilateral optic neuritis
12/ Treatment
Acute Attacks: high-dose IV methylprednisolone. May consider plasma exchange
Prevention: long-term immunotherapy (eculizumab, rituximab, etc.)
Relapsing MOG-associated disease: immunotherapy (IVIG superior to other treatment) as described in the linked study
Acute Attacks: high-dose IV methylprednisolone. May consider plasma exchangePrevention: long-term immunotherapy (eculizumab, rituximab, etc.)Relapsing MOG-associated disease: immunotherapy (IVIG superior to other treatment) as described in the linked study
13/ Treatment considerations for relapsing MOG-associated disease https://pubmed.ncbi.nlm.nih.gov/29305608/
14/ Want to learn more about the differential diagnosis of acute CNS demyelination in children? Check out this review article!
https://www.uptodate.com/contents/differential-diagnosis-of-acute-central-nervous-system-demyelination-in-children?search=neuromyelitis%20optica%20spectrum%20disorders&source=search_result&selectedTitle=2~31&usage_type=default&display_rank=2
https://www.uptodate.com/contents/differential-diagnosis-of-acute-central-nervous-system-demyelination-in-children?search=neuromyelitis%20optica%20spectrum%20disorders&source=search_result&selectedTitle=2~31&usage_type=default&display_rank=2
