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Late‐onset Pompe disease after 4 years of enzyme replacement therapy: An autopsy case
Author(s) -
Furusawa Yoshihiko,
Mitsuhashi Satomi,
MoriYoshimura Madoka,
Shimada Yohta,
Yamamoto Toshiyuki,
Shibuya Makoto,
Shimizu Jun,
Ohashi Toya,
Saito Yuko,
Nishino Ichizo,
Oya Yasushi,
Murata Miho
Publication year - 2014
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.66
Subject(s) - medicine , enzyme replacement therapy , autopsy , muscle biopsy , atrophy , weakness , respiratory distress , muscle atrophy , oxygen therapy , cause of death , surgery , disease , biopsy
Abstract We report an autopsy case of advanced late‐onset Pompe disease (juvenile type). At 15 years‐of‐age, the patient experienced proximal weakness and subsequently required non‐invasive positive pressure ventilation. Enzyme replacement therapy was initiated at 37 years‐of‐age, which improved pinch power and alleviated respiratory distress. At age 41 years, repetitive pneumothorax led to respiratory failure and death. Autopsy excluding the brain showed few vacuoles and periodic acid–Schiff‐positive fibers in the left rectus femoris, compared with the contralateral muscle biopsy carried out at 21 years‐of‐age. Vacuolar changes were also less evident than previous autopsy cases without enzyme replacement therapy. The findings suggest that enzyme replacement therapy might have suppressed myovacuolopathy in our patient with advanced late‐onset Pompe disease. Apart from vacuolopathy, the autopsied muscle showed marked myofiber atrophy and fibrosis, suggesting that disuse atrophy could have contributed to the muscle weakness.