Takanobu Otomo
   Department   Kawasaki Medical School  Kawasaki Medical School, Department of Molecular and Genetic Medicine,
   Position   Professor
Article types 症例報告
Language English
Peer review Peer reviewed
Title Mucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compression.
Journal Formal name:Brain & development
Abbreviation:Brain Dev
ISSN code:18727131/03877604
Domestic / ForeginForegin
Author and coauthor Nakaoka Sachiko, Kondo Hidehito, Matsuoka Keiko, Shibuya Toko, Otomo Takanobu, Hamada Yusuke, Sakamoto Kenichi, Ozono Keiichi, Sakai Norio
Publication date 2021/05
Summary In mucopolysaccharidoses (MPS), spinal cord compression (SCC) resulting from glycosaminoglycan (GAG) accumulation is a critical complication that can cause significant neurological and respiratory morbidities. However, clinically similar disorders such as mucolipidosis types II and III (ML) with SCC have been scarcely reported. Herein, we report four patients with ML who had SCC. Brain MRI revealed progressive spinal canal stenosis and SCC. In addition, T2-weighted high signal changes in the cervical cord were detected in two cases. Severe cases of SCC were detected as early as 1 year of age. All cases had respiratory problems. One case showed severe hypoxia and another, severe sleep apnea. In two cases, respiratory insufficiency and tetraplegia rapidly progressed as SCC progressed. Then, the patients became bedridden and needed artificial ventilation. In addition, two of the four patients died of respiratory failure. The autopsy of one patient revealed a compressed cervical cord and marked dura mater thickening due to GAG accumulation. These findings suggest that the accumulation of substrates in the dura mater caused SCC in the patients with ML. Our cases indicate that SCC is expected to be a common and critical complication of ML and MPS. MRI evaluation of cervical involvements and careful clinical observation are required in patients with ML.
DOI 10.1016/j.braindev.2021.04.003
PMID 33965289