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Mucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compression.
Nakaoka, Sachiko; Kondo, Hidehito; Matsuoka, Keiko; Shibuya, Toko; Otomo, Takanobu; Hamada, Yusuke; Sakamoto, Kenichi; Ozono, Keiichi; Sakai, Norio.
Afiliação
  • Nakaoka S; Department of Pediatrics, Osaka University Graduate School of Medicine, Japan; Department of Pediatrics, Faculty of Medicine, University of Toyama, Japan.
  • Kondo H; Department of Pediatrics, Osaka University Graduate School of Medicine, Japan; Department of Pediatrics and Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Japan. Electronic address: hidehito-kondo@kyoto1-jrc.org.
  • Matsuoka K; Department of Pathology, Osaka Women's and Children's Hospital, Japan.
  • Shibuya T; Department of Pediatrics, Osaka University Graduate School of Medicine, Japan.
  • Otomo T; Department of Pediatrics, Osaka University Graduate School of Medicine, Japan; Department of Molecular and Genetic Medicine, Kawasaki Medical School, Japan.
  • Hamada Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Japan; Department of Pediatrics, Toyonaka Municipal Hospital, Japan.
  • Sakamoto K; Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
  • Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Japan.
  • Sakai N; Department of Pediatrics, Osaka University Graduate School of Medicine, Japan; Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University Graduate School of Medicine, Japan.
Brain Dev ; 43(8): 867-872, 2021 Sep.
Article em En | MEDLINE | ID: mdl-33965289
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Compressão da Medula Espinal / Mucolipidoses Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Dev Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Compressão da Medula Espinal / Mucolipidoses Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Dev Ano de publicação: 2021 Tipo de documento: Article