UCSF MedConnectionTelehealth Referral Leads to Diagnosis and Effective Treatment of Rare Neuropathy: Case Study

Advancements in Telehealth and Specialized Testing Uncover Effective Treatment for Rare Neuropathy

In a compelling demonstration of the power of telehealth and multidisciplinary care, a case study at the University of California, San Francisco (UCSF) highlights the diagnosis and successful treatment of a rare neuropathy in a patient with complex comorbidities. The patient, suffering from acetylcholine receptor (AChR) antibody–positive myasthenia gravis and poorly controlled type 2 diabetes, presented with progressive symptoms that puzzled his local neurologist. Through the use of telehealth for a second opinion, specialized testing, and the collaborative efforts of a multidisciplinary team, the patient received a diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP) with anti-contactin-1 (CNTN1) antibodies, leading to an effective treatment plan that significantly improved his quality of life.

Key Points:

• A 68-year-old man with myasthenia gravis and diabetic neuropathy presented with worsening symptoms, leading his neurologist to seek a telehealth second opinion from UCSF.
• Electromyogram (EMG) and nerve conduction study (NCS) indicated active denervation and absent sensory amplitudes, suggesting a complex neuropathy beyond diabetic neuropathy.
• A UCSF neurologist suspected the patient’s progressive symptoms could be due to CIDP, ALS, or worsening myasthenia gravis, based on telehealth and in-person evaluations.
• Increased cerebrospinal fluid protein from a lumbar puncture suggested inflammatory neuropathy, prompting further investigation.
• Repeated EMG and NCS at UCSF revealed signs of conduction block, supporting a diagnosis of CIDP.
• The patient tested positive for anti-contactin-1 (CNTN1) antibodies, indicating a specific form of CIDP associated with IgG4.
• Transitioning from IVIg to rituximab significantly improved the patient’s symptoms, demonstrating the efficacy of targeted treatment.
• UCSF’s multidisciplinary treatment model, recognized for improving quality of life in neuromuscular conditions, was pivotal in the patient’s care.
• The case underscores the importance of specialized testing, telehealth, and collaborative care in diagnosing and managing complex neuropathies.

“The therapy reversed a lot of the patient’s disease. His treatment was possible due to the coordinated care of his local neurologist, telehealth and in-person visits with me, and access to specialized testing at UCSF. The patient continues to follow up with his neurologist in Hawaii going forward.”
– UCSF Neurologist Mark Terrelonge Jr., MD, MPH

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