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Camptocormia in a young man with anti-GAD-seropositive stiff-person syndrome.
- Source :
-
BMJ case reports [BMJ Case Rep] 2024 Aug 08; Vol. 17 (8). Date of Electronic Publication: 2024 Aug 08. - Publication Year :
- 2024
-
Abstract
- Stiff-person syndrome (SPS) usually manifests as an autoimmune neuromuscular disorder characterised by pronounced and advancing rigidity, primarily affecting the trunk and proximal muscles. There are various clinical subtypes like classic SPS (truncal stiffness, generalised rigidity and muscle spasms), partial SPS (stiff-limb syndrome) and uncommon forms including progressive encephalomyelitis with rigidity and myoclonus. Camptocormia, defined as forward flexion of the spine in the upright position that disappears in the supine position, without fixed deformity, has been described only in two cases as an initial presentation of Anti glutamic acid decarboxylase (GAD) autoimmunity. We encountered a young male presenting with a progressive forward-leaning posture and involuntary rhythmic movements in the lower limb. Diagnostic workup included MRI, blood routines, autoimmune screening, genetic testing, lumbar puncture and electromyography. Elevated serum anti-GAD antibody levels, inflammatory CSF and certain other clinical features supported the diagnosis of SPS. Treatment involved benzodiazepines, muscle relaxants and immunotherapy with intravenous immunoglobulin. This case underscores the importance of considering immune-mediated causes, such as SPS, in patients presenting with camptocormia.<br />Competing Interests: Competing interests: None declared.<br /> (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
- Subjects :
- Humans
Male
Autoantibodies blood
Autoantibodies immunology
Immunoglobulins, Intravenous therapeutic use
Adult
Muscle Rigidity immunology
Muscle Rigidity drug therapy
Muscle Rigidity diagnosis
Electromyography
Magnetic Resonance Imaging
Stiff-Person Syndrome immunology
Stiff-Person Syndrome diagnosis
Stiff-Person Syndrome complications
Spinal Curvatures immunology
Spinal Curvatures complications
Spinal Curvatures etiology
Glutamate Decarboxylase immunology
Muscular Atrophy, Spinal diagnosis
Muscular Atrophy, Spinal complications
Muscular Atrophy, Spinal immunology
Subjects
Details
- Language :
- English
- ISSN :
- 1757-790X
- Volume :
- 17
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- BMJ case reports
- Publication Type :
- Academic Journal
- Accession number :
- 39122374
- Full Text :
- https://doi.org/10.1136/bcr-2024-262122