RESUMO
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.
Assuntos
Glutamato Descarboxilase , Atrofia Muscular Espinal , Curvaturas da Coluna Vertebral , Rigidez Muscular Espasmódica , Humanos , Masculino , Rigidez Muscular Espasmódica/imunologia , Rigidez Muscular Espasmódica/diagnóstico , Rigidez Muscular Espasmódica/complicações , Curvaturas da Coluna Vertebral/imunologia , Curvaturas da Coluna Vertebral/complicações , Curvaturas da Coluna Vertebral/etiologia , Glutamato Descarboxilase/imunologia , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/complicações , Atrofia Muscular Espinal/imunologia , Autoanticorpos/sangue , Autoanticorpos/imunologia , Imunoglobulinas Intravenosas/uso terapêutico , Adulto , Rigidez Muscular/imunologia , Rigidez Muscular/tratamento farmacológico , Rigidez Muscular/diagnóstico , Eletromiografia , Imageamento por Ressonância MagnéticaRESUMO
INTRODUCTION: Cerebral Venous Thrombosis (CVT) poses a rare but life-threatening challenge, warranting meticulous treatment approaches. Traditional therapy involves Vitamin K Antagonists (VKAs), but Newer Oral Anticoagulants (NOACs) offer potential advantages. This study addresses a crucial knowledge gap in the Indian context, analyzing real-world data to guide CVT management decisions. METHODS: A single-center, ambispective cohort study included consecutive adult CVT patients. Data collection encompassed demographics, clinical data, imaging, and treatment details. Patients were categorized into VKA and NOAC groups. Outcomes measured recanalization status, functional outcomes, bleeding events, and adverse drug reactions. RESULTS: Among 181 enrolled patients, NOACtreated (Group B) individuals had significantly higher rates of complete recanalization (58.5% vs. 31.1%) with a similar incidence of adverse events and also displayed better functional outcomes at weeks 8 and 12 compared to VKA-treated (Group A) patients. Recurrent thromboembolic events were absent in both groups during follow-up. CONCLUSION: This study highlights NOACs' potential advantages in CVT management, including improved functional outcomes, enhanced recanalization, and similar bleeding risk. Adverse events were milder with NOACs. While acknowledging limitations, these findings support NOACs as a promising alternative to VKAs, advancing CVT care and outcomes.