ABSTRACT
BACKGROUND: Cerebral venous thrombosis (CVT) is a rare medical condition that primarily affects young adults. The clinical spectrum is broad and its recognition remains a challenge for clinicians. Limited information is available on CVT in Argentina. Our goal was to report the results of the first National registry on CVT in Argentina and to compare clinical presentation, predisposing factors and outcomes with other international registries. MATERIAL AND METHOD: The Argentinian National Registry on CVT (ANR-CVT) is a multicenter retrospective cohort study comprising patients aged 18 and older with a diagnosis of CVT from January 2015 to January 2019. We evaluated demographics, predisposing factors, clinical presentation, and radiological characteristics (e.g. number of involved sinuses, venous infarction or hemorrhage on CT and MRI scans at admission), therapeutic interventions and functional outcomes at discharge and at 90 days. Our results were compared to a literature review of CVT registries. RESULTS: Overall, one hundred and sixty-two patients met the inclusion criteria. The mean age was 42 (±17) years; 72% were women. Seventy percent of patients were younger than 50 years. The most common presenting symptom was headache (82%). The transverse sinus was the most common site of thrombosis (70%) followed by the sigmoid sinus (46%). The main predisposing factor in women was contraceptive use (44%), 3% of the events occurred during pregnancy and 9% during the puerperium. Participants 50 years and older had a higher frequency on malignancy related (7.5% vs. 30%, p = 0.0001) and infections (2% vs. 11%, p = 0.001). The modified Rankin Scale (mRS) ≤2 at discharge was 81% and the rate of mortality at discharge was 4%. At 90 days, the mRS≤2 was 93%. When the ANR-CVT was compared with larger registries from Europe and Asia, the prevalence of cancer among patients with CVT was two to five-fold higher (15% vs. 7% and 3%, respectively; p = 0.002 and p < 0.001). Anticoagulation rates at discharge were also higher (94%) compared to registries from Asia (ASCVT - 68%) or Turkey (VENOST - 67%). CONCLUSION: Participants in the first ANR-CVT had a low mortality and disability at 90 days. Clinical and radiological characteristics were similar to CVT from other international registries with a higher prevalence of cancer. There was a high variability in treatment adherence to guidelines as reflected by anticoagulation rates (range 54.5%-100%) at discharge.
Subject(s)
Intracranial Thrombosis/drug therapy , Venous Thrombosis/drug therapy , Adolescent , Adult , Anticoagulants/therapeutic use , Argentina/epidemiology , Cerebral Angiography , Comorbidity , Disability Evaluation , Female , Guideline Adherence , Healthcare Disparities , Humans , Intracranial Thrombosis/diagnostic imaging , Intracranial Thrombosis/mortality , Male , Middle Aged , Practice Guidelines as Topic , Practice Patterns, Physicians' , Prevalence , Registries , Retrospective Studies , Risk Factors , Time Factors , Treatment Outcome , Venous Thrombosis/diagnostic imaging , Venous Thrombosis/mortality , Young AdultABSTRACT
La adrenoleucodistrofia ligada al X (X-ALD), trastorno genético progresivo que afecta la sustancia blanca del SNC y la corteza suprarrenal, causa desde insuficiencia adrenal aislada y mielopatia lentamente progresiva hasta desmielinización cerebral devastadora. Presentamos un paciente masculino, 21 años de edad, tabaquista, con trastorno de la marcha de un año de evolución, paraparesia espástica e hiperreflexia en miembros inferiores. El análisis del líquido cefalorraquídeo (LCR) reveló proteinorraquia elevada, resultados negativos de bandas oligoclonales y virus Epstein Barr. Niveles de cortisol, ACTH, ácidos grasos de cadena muy larga en suero, fueron anormales. La RNM cerebral evidenció lesiones en sustancia blanca en región parietooccipital bilateral, comprometiendo el esplenio del cuerpo calloso, que realzaban con gadolinio. En RNM de columna cervical se observó lesión hiperintensa en secuencia T2 a nivel C7. Fue tratado con reemplazo adrenal. Presentamos un caso de X-ALD de inicio en adulto, con retraso en el diagnóstico debido a recursos limitados. Palabras claves: adrenoleucodistrofia ligada al X, paraparesia espástica, ácidos grasos de cadena muy larga, adrenomieloneuropatia
X- Linked adrenoleukodystrophy (X-ALD) is a progressive genetic disorder that affects CNS white matter and adrenal gland cortex, and causes from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. We present a 21 years old male patient, smoker, with one year history of gradually progressive trouble walking, unsteady gait, asymmetric spastic paraparesis, lower extremity deep tendon reflexes were increased. Cerebrospinal fluid (CSF) analysis revealed elevated CSF protein, CSF oligoclonal bands and Epstein Barr virus negative results. Basal cortisol, ACTH and very-long- chain fatty acids in plasma with abnormal results. All other laboratory tests were normal. Cerebral MRI showed parietooccipital white matter abnormalities involving the splenium of the callosum that enhanced with gadolinium. Cervical spinal cord MRI showed a short-segment T2 hyperintense lesion at C7. He was treated with adrenal replacement. We present a case of adult onset X-ALD and diagnostic delay owed to limited resources