オオトモ　タカノブ   Takanobu Otomo   大友　孝信    所属   川崎医科大学  医学部 基礎医学　分子遺伝医学    職種   教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Mucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compression.
掲載誌名	正式名：Brain & development 略　 称：Brain Dev ISSNコード：18727131/03877604
掲載区分	国外
著者・共著者	Nakaoka Sachiko, Kondo Hidehito, Matsuoka Keiko, Shibuya Toko, Otomo Takanobu, Hamada Yusuke, Sakamoto Kenichi, Ozono Keiichi, Sakai Norio
発行年月	2021/05
概要	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