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Abstract Details

Investigation of Toxic Metabolic Encephalopathy in Adult Polyglucosan Body Disease & Other Genetic Leukoencephalopathies
General Neurology
P8 - Poster Session 8 (11:45 AM-12:45 PM)
7-008

This case report explores the complexities in diagnosis and management of patients with Adult Polyglucosan Body Disease (APBD) and other genetic leukoencephalopathies, particularly within the context of toxic metabolic encephalopathy (TME).

APBD is a type IV glycogen storage disease caused by a glycogen branching enzyme deficiency, leading to intracellular polyglucosan body aggregation throughout the nervous system. It presents in adulthood with progressive cognitive decline, spastic paraplegia, gait instability, and neurogenic bladder in the setting of white matter lesions. With only approximately 200 cases reported worldwide, the typical clinical course is not well understood, and the presentation of toxic-metabolic derangements in this population remains poorly characterized.
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We present a 62-year-old male with APBD who presented with progressive confusion and dysarthria initially concerning for stroke vs. primary APBD manifestation. Neuroimaging demonstrated stable white matter changes and no acute intracranial process. Labs were significant for acute kidney injury in the setting of a urinary tract infection and hydronephrosis, managed with nephrostomy tube placement and antibiotics. Despite improvement in his metabolic derangements and antimicrobial therapy, he continued to display impaired mental status. Additional work-up, including a lumbar puncture and EEG, was unrevealing. He began to demonstrate slow recovery to his baseline cognition, prolonging his hospitalization to 17 days.
The clinical course of APBD and similar inherited white matter disorders remains poorly understood, warranting further study to distinguish primary disease manifestations from secondary TME. These patients have limited neurological reserve, and cognitive recovery may lag despite clinical improvement after non-neurologic insults. This case highlights the uncertainty surrounding the expected nadir and recovery in TME and the difficulty in discerning contribution of underlying APBD. With no disease-modifying therapies available, management is largely a multidisciplinary supportive and preventative approach. Improved understanding of APBD’s natural course and secondary complications is essential to optimizing care for leukodystrophies.
Authors/Disclosures
William H. Roberts
PRESENTER 		Mr. Roberts has nothing to disclose.
Vinit Parekh, DO Dr. Parekh has nothing to disclose.
Brett Irving, MD Dr. Irving has nothing to disclose.
Jennifer L. Orthmann Murphy, MD, PhD (Hospital of the University of Pennsylvania) Dr. Orthmann Murphy has received personal compensation in the range of $0-$499 for serving as a Consultant for Vigil Neuroscience. Dr. Orthmann Murphy has received personal compensation in the range of $0-$499 for serving as a Consultant for NovoGlia. The institution of Dr. Orthmann Murphy has received research support from Vigil Neurosciences. The institution of Dr. Orthmann Murphy has received research support from National MS Society. The institution of Dr. Orthmann Murphy has received research support from Fishman Family Foundation. The institution of Dr. Orthmann Murphy has received research support from Global Leukodystrophy Initiative Clinical Trial Network. The institution of Dr. Orthmann Murphy has received research support from NINDS. The institution of Dr. Orthmann Murphy has received research support from Montague Investigator Award. Dr. Orthmann Murphy has received personal compensation in the range of $500-$4,999 for serving as a Developing CME content on Neurogenetics with American Neurological Association. Dr. Orthmann Murphy has received personal compensation in the range of $500-$4,999 for serving as a Faculty, Honoraria with CMSC.