CNS aquaporin-4 autoimmunity in children.

Abstract

BACKGROUND:

In adult patients, autoantibodies targeting the water channel aquaporin-4 (AQP4) are a biomarker for a spectrum of CNS inflammatory demyelinating disorders with predilection for optic nerves and spinal cord (neuromyelitis optica [NMO]). Here we describe the neurologic, serologic, and radiographic findings associated with CNS AQP4 autoimmunity in childhood.

METHODS:

A total of 88 consecutive seropositive children were identified through service evaluation for NMO-IgG. Sera of 75 were tested for coexisting autoantibodies. Clinical information was available for 58.

RESULTS:

Forty-two patients (73%) were non-Caucasian, and 20 (34%) had African ethnicity. Median age at symptom onset was 12 years (range 4-18). Fifty-seven (98%) had attacks of either optic neuritis (n = 48; 83%) or transverse myelitis (n = 45; 78%), or both. Twenty-six (45%) had episodic cerebral symptoms (encephalopathy, ophthalmoparesis, ataxia, seizures, intractable vomiting, or hiccups). Thirty-eight (68%) had brain MRI abnormalities, predominantly involving periventricular areas (in descending order of frequency): the medulla, supratentorial and infratentorial white matter, midbrain, cerebellum, thalamus, and hypothalamus. Additional autoantibodies were detected in 57 of 75 patients (76%), and 16 of 38 (42%) had a coexisting autoimmune disorder recorded (systemic lupus erythematosus, Sjögren syndrome, juvenile rheumatoid arthritis, Graves disease). Attacks were recurrent in 54 patients (93%; median follow-up, 12 months). Forty-three of 48 patients (90%) had residual disability: 26 (54%) visual impairment and 21 (44%) motor deficits (median Expanded Disability Status Scale 4.0 at 12 months).

CONCLUSIONS:

Aquaporin-4 autoimmunity is a distinctive recurrent and widespread inflammatory CNS disease in children.

• Authors: A McKeon, V A Lennon, T Lotze, S Tenenbaum, J M Ness, M Rensel, N L Kuntz, J P Fryer, H Homburger, J Hunter, B G Weinshenker, K Krecke, C F Lucchinetti, S J Pittock
• Journal: Neurology (Neurology) Vol. 71 Issue 2 Pg. 93-100 (Jul 08 2008) ISSN: 1526-632X [Electronic] United States
• PMID: 18509092 (Publication Type: Journal Article)

Chemical References

• Aquaporin 4
• Autoantibodies
• Biomarkers
• Methylprednisolone

Topics

• Adolescent
• Aquaporin 4 (immunology)
• Autoantibodies (analysis)
• Autoimmunity
• Biomarkers (analysis)
• Brain (pathology)
• Child
• Child, Preschool
• Female
• Humans
• Magnetic Resonance Imaging
• Male
• Methylprednisolone (therapeutic use)
• Myelitis, Transverse (diagnosis, drug therapy, immunology)
• Neuromyelitis Optica (diagnosis, drug therapy, immunology)
• Recurrence
• Serologic Tests