Abstract
Introduction Blau syndrome is a rare inherited autoinflammatory disorder characterized by granulomatous dermatitis, polyarthritis, and uveitis. It is caused by mutations in the NOD2/CARD15 gene and has been described as the familial variant of juvenile-onset-sarcoidosis. Unlike sarcoidosis however, nervous system involvement is hardly ever reported in Blau syndrome, and severe peripheral neuropathy has not to our knowledge previously been recorded as a complication of the disease.
Methods A retrospective case study and literature review was conducted after assessing a Blau syndrome patient with severe subacute sensorimotor polyneuropathy.
Results A 37-year-old mother with Blau syndrome presented with progressive ascending sensory symptoms and leg weakness immediately following a prolonged viral illness of 3–4 weeks duration. Initial investigations were inconclusive for GBS (CSF Protein 1.95g, WCC 120), and neurophysiology studies revealed generalised axonal neuropathy with evidence of denervation affecting specific nerves (mononeuritis multiplex). Headaches were a prominent feature of her initial illness.
Our patient subsequently developed painful polyneuralgias, a frank right LMN facial palsy, and worsening weakness in the hands and limbs causing significant functional decline and immobility. She was empirically treated for neurovasculitis and biopsies of the sural nerve and quadriceps muscle were organised. An extensive peripheral neuropathy screen was unremarkable.
Both biopsies showed typical granulomatous inflammation of nerve and muscle fibres as occurs in other tissues affected by Blau syndrome. It was noted that our patient’s infliximab medication had recently been changed to adalimumab.
Conclusion Granulomatous neuritis and myopathy should be considered causes for peripheral neuropathy and weakness in Blau syndrome.
