Multiple Cranial Neuropathies and Pachymeningitis in a Patient With a Pathogenic Nucleotide-Binding Oligomerization...

Area of Science:

• Neurology
• Immunology
• Genetics

Background:

• Tolosa-Hunt syndrome (THS) is a rare idiopathic granulomatous inflammation of the cavernous sinus.
• Recurrent neurological deficits in children can present diagnostic challenges, sometimes mimicking THS.

Observation:

• An 11-year-old boy experienced recurrent episodes of headache, orbital pain, diplopia, and cranial nerve palsies, initially diagnosed as THS and treated with corticosteroids.
• Despite initial response, the patient developed progressive neurological symptoms including ophthalmoplegia and sensory/motor deficits, prompting further investigation.
• Dural biopsy revealed inflammatory infiltrates, and genetic testing identified a NOD2 risk allele associated with Crohn disease.

Findings:

• The patient's clinical course, imaging, and genetic findings suggested an autoinflammatory condition rather than typical THS or sarcoidosis.
• The NOD2 risk allele (c.3019dup) is linked to increased susceptibility to inflammatory bowel disease and potentially other autoinflammatory disorders.
• Treatment with infliximab, a targeted therapy, led to sustained clinical stability.

Implications:

• This case underscores the utility of genetic testing in evaluating complex, recurrent neurological inflammatory conditions with autoimmune features.
• Identifying genetic predispositions like NOD2 variants can guide diagnosis and treatment strategies for suspected autoinflammatory diseases.
• The findings suggest a potential link between specific genetic variants and idiopathic inflammatory syndromes affecting the central nervous system.