Electrodiagnostic / Neuromuscular Medicine
Kenneth Pechtl, MD
Resident Physician
Northwestern Medicine Marianjoy Rehabilitation Hospital
Downers Grove, Illinois, United States
Melanie Stearns, MD
Attending Physician
Northwestern Marianjoy
Wheaton, Illinois, United States
Kenneth Pechtl, MD
Northwestern Medicine Marianjoy Rehabilitation Hospital
Downers Grove, Illinois, United States
Acute autonomic and sensory neuropathy
Case Description:
Our patient was a 21-year-old male with no past medical history who presented with acute onset paresthesias, emesis, and generalized weakness, following a viral illness. With mildly elevated CSF proteins and absent reflexes, he was diagnosed with Guillain-Barre Syndrome (GBS) and treated with IVIG. His hospital course was complicated by orthostatic hypotension and gastroparesis, with intolerability of oral intake leading to severe protein-calorie malnutrition. During multiple acute inpatient rehabilitation admissions, his strength improved, but he experienced refractory nausea and abnormal sensations to bilateral hands, forearms, and upper thighs. He underwent surgical J tube placement and was later converted to TPN as he was unable to tolerate tube feeds. An outpatient electrodiagnostic study a few months later revealed a sensory-predominant axonal neuropathy without demyelinating features. He was referred to a neuromuscular specialist who diagnosed him with acute autonomic and sensory neuropathy (AASN).
Discussions:
This patient had electrodiagnostic findings atypical for GBS and autonomic failure out of proportion to peripheral nerve findings, which prompted consideration of an alternative diagnosis. AASN is a rare, presumably autoimmune-mediated, disorder presenting with severe autonomic dysfunction, often with intractable gastrointestinal dysmotility. Sensory disturbances include superficial numbness or pain often in an asymmetric or patchy distribution. The time to peak symptoms is prognostic with longer time to peak symptoms leading to more severe sensory disturbances. There are no immunological markers, and misdiagnosis is common. Treatment focuses on suppressing the autoimmune attack with IVIG or immunosuppression.
Conclusions:
Due to a higher prevalence of GBS patients in rehabilitation settings, physiatrists are uniquely equipped to detect unusual presentations and assist with diagnosing rarer variants like AASN. Though treatment of GBS and AASN are similar, prognosis and recovery in AASN is less understood. Future research should focus on identifying immunological markers to aid in diagnosis and treatment of AASN.
