Fatal cervical myelopathy in a child with glutaric aciduria type 1
Abstract We report the case of a Syrian female refugee with late diagnosis of glutaric aciduria type 1 characterised by massive axial hypotonia and quadriplegia who only started adequate diet upon arrival in Switzerland at the age of 4 years, after a strenuous migration journey. Soon after arrival, she died from an unexpected severe upper cervical myelopathy, heralded by acute respiratory distress after a viral infection. This was likely due to repeated strains on her hypotonic neck and precipitated by an orthotopic os odontoideum who led to atlanto‐axial subluxation. This case reminds us not to omit handling patients with insufficient postural control and hypotonia with great care to avoid progressive cervical myelopathy..
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:47 |
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| Enthalten in: |
Journal of Inherited Metabolic Disease - 47(2024), 2, Seite 217-219 |
| Beteiligte Personen: |
Chauvet, Eline [VerfasserIn] |
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| Anmerkungen: |
Copyright © 2024 SSIEM |
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| Umfang: |
3 |
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| doi: |
10.1002/jimd.12716 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
WLY017846803 |
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| 245 | 1 | 0 | |a Fatal cervical myelopathy in a child with glutaric aciduria type 1 |
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| 520 | |a Abstract We report the case of a Syrian female refugee with late diagnosis of glutaric aciduria type 1 characterised by massive axial hypotonia and quadriplegia who only started adequate diet upon arrival in Switzerland at the age of 4 years, after a strenuous migration journey. Soon after arrival, she died from an unexpected severe upper cervical myelopathy, heralded by acute respiratory distress after a viral infection. This was likely due to repeated strains on her hypotonic neck and precipitated by an orthotopic os odontoideum who led to atlanto‐axial subluxation. This case reminds us not to omit handling patients with insufficient postural control and hypotonia with great care to avoid progressive cervical myelopathy. | ||
| 700 | 1 | |a Ribeiro, Diana |4 aut | |
| 700 | 1 | |a Kern, Ilse |4 aut | |
| 700 | 1 | |a Fluss, Joel |4 aut | |
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