Mucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compression

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...

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Bibliographic Details
Published in:Brain & development (Tokyo. 1979) 2021-09, Vol.43 (8), p.867-872
Main Authors: Nakaoka, Sachiko, Kondo, Hidehito, Matsuoka, Keiko, Shibuya, Toko, Otomo, Takanobu, Hamada, Yusuke, Sakamoto, Kenichi, Ozono, Keiichi, Sakai, Norio
Format: Article
Language:English
Subjects:
Adult
Cervical Cord - diagnostic imaging
Cervical Cord - pathology
Child
Child, Preschool
Fatal Outcome
Female
Humans
Magnetic Resonance Imaging
Male
Mucolipidoses - complications
Mucolipidosis types II and III
Quadriplegia - etiology
Respiration, Artificial
Respiratory insufficiency
Respiratory Insufficiency - etiology
Spinal cord compression
Spinal Cord Compression - diagnostic imaging
Spinal Cord Compression - etiology
Spinal Cord Compression - pathology
Tetraplegia
Young Adult
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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.
ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2021.04.003