317 - Dull, Drenched, and in Disarray: Physiatry's Role in Treating Adult Polyglucosan Body Disease

Thursday, February 22, 2024

5:00 PM – 6:30 PM EDT

Presenting Author(s)

CK

Caitlyn Ko, MD

Resident Physician
New York Presbyterian Columbia/Cornell
New York, New York, United States

Co-Author(s)

AB

Akinpelumi Beckley, MD

Associate Residency Program Director and Medical Director of Inpatient Rehabilitation
Columbia University Medical Center
New York, New York, United States

Case Diagnosis: Adult Polyglucosan Body Disease (APBD)

Case Description: This case study follows a 55-year-old male with generalized lower extremity paresthesia for over five years. He presented to clinic with progressive, spastic, diplegic gait pattern. Examination showed gluteal fasciculations, decreased rectal tone, absent S3-5 dermatome sensation and anal wink reflex, which correlated with patient's urge incontinence, incomplete bladder emptying and erectile dysfunction. Electrodiagnostic study showed axonal neuropathy and MRI revealed lateral corticospinal tract degeneration. Leading diagnoses indicated myeloneuropathy. Genetic testing for a homozygous GBE-1 variant confirmed APBD.

Discussions: APBD is an autosomal recessive glycogenosis due to glycogen-branching enzyme (GBE-1) malfunction. Without the last step of glycogenesis, polyglucosan builds up and precipitates neuronal degeneration. This leukodystrophy is associated with progressive symptoms centered around axonal peripheral neuropathy, neurogenic bladder, and spastic gait. Gait impairments were addressed with application of orthotics, oral antispasmodics, and therapy. Botulinum toxin injections and sacral neuromodulation were considered for patient's overactive bladder. Following physiatry’s intervention, the patient reported improved functional mobility, safety allowing for independence, and quality of life.

Conclusions: This case study demonstrates how physiatry can be of value to patients living with APBD. Patients with APBD are often misdiagnosed in the beginning stages of disease, which can lead to delays in physiatry referral and functional intervention. Physiatry’s management of APBD functional impairments will lead to improved mobility and symptom management. Moreover, this case report exhibits APBD’s relevance to physiatry differentials when evaluating adults who present with progressive, spastic movement feeling dull, drenched, and in disarray.