Objective:

To report the first case of Anti-Neurofascin-155 (Anti-NF 155) Autoimmune Nodopathy (AN) in both a father and son.

Background:

AN with Anti-NF 155 has similar clinical presentation like Chronic Inflammatory Demyelinating Polyneuropathy (CIDP). Accurate differentiation from CIDP is vital for early diagnosis and management, as it does not respond to first line CIDP treatments and necessitates alternative therapies with B cell depleting agents. To date, no familial cases of Anti-NF155 AN have been documented in the literature.

Design/Methods:

NA

Results:

We present a case report of a previously healthy 34-year-old male who presented with 5-6 weeks of subacute onset sensory ataxia, symmetric progressive proximal and distal weakness in all 4 limbs and areflexia, proceeded by right Bell's palsy. Given the clinical presentation, acute onset CIDP was suspected, prompting a cerebrospinal fluid (CSF) analysis which revealed albumin cytologic dissociation, along with a markedly elevated CSF protein level of 485 mg/dl. Nerve conduction studies revealed demyelinating polyneuropathy. Despite initial treatment with IVIG and steroids, the patient showed minimal improvement. Subsequent detection of Anti-NF 155 antibodies in serum confirmed the diagnosis of AN. Notably, the patient's 13-year-old son also exhibited similar clinical presentation at the age of 8 years and was diagnosed with CIDP with Anti-NF 155 antibodies. He is currently undergoing Rituximab treatment every six months.

Conclusions:

Conclusions: This case highlights the significance of genetic predisposition in the pathogenesis of the disease and underscores the importance of further investigation into other genetic factors associated with AN.