Case Studies in Neuroscience: Neuropathology and diaphragm dysfunction in ventilatory failure from late-onset Pompe disease
David D. Fuller, Jorge Trejo‐Lopez, Anthony T. Yachnis, Michael D. Sunshine, Sabhya Rana, Victoria E. Bindi, Barry J. Byrne, Barbara K. Smith
Abstract
This case study offered a unique opportunity to investigate longitudinal changes in phrenic neurophysiology in an individual with severe, ventilator-dependent, late-onset Pompe disease. Additional diaphragm and neural tissue histology upon autopsy confirmed significant neuromuscular degeneration, and it provided novel insights regarding rostral to caudal variability in the neuropathology. These findings suggest that a successful treatment approach for ventilator-dependent Pompe disease should target the central nervous system, in addition to skeletal muscle.
Topics & Concepts
Amyotrophic lateral sclerosisNeuropathologyMedicineRespiratory failureSpinal cordDiaphragm (acoustics)BrainstemAtrophyVentilation (architecture)Respiratory systemNeuroscienceAnatomyInternal medicinePsychologyDiseaseLoudspeakerPhysicsAcousticsMechanical engineeringEngineeringLysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusNeurogenetic and Muscular Disorders Research