ABSTRACT
INTRODUCTION: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease due to a mutation in the ABCD1 gene that leads to the accumulation of very-long-chain fatty acids in tissues. OBJECTIVE: To describe one patient with severe childhood cerebral X-ALD and to analyze his diagnostic process and the rapeutic possibilities. CLINICAL CASE: 7-year-old male child, with a six-month history of decreased visual acuity, learning difficulties due to lack of attention, reading and writing impairment, and social isolation. On physical examination, he presented bilateral decrease in visual acuity, hypoprosexia, hyperpigmented lesions on the hands, and gait abnormality. Brain MRI showed bilateral white mat ter signal alteration in parieto-occipital regions, with 12 points on the Loes' scale. He also presented adrenal insufficiency, meeting clinical criteria for X-ALD. Very-long-chain fatty acid was elevated, confirming the diagnosis. Three months later, the patient progressed to vision loss and inability to walk. MRI was repeated showing 15 points in the Loes' scale due to extensive structural involvement of the central nervous system, with rapidly progressive deterioration. Therefore, he was not consi dered a candidate for bone marrow transplantation. CONCLUSION: This case of X-ALD was of severe childhood cerebral presentation, with rapid progression. The clinical evaluation and classification of radiological findings according to the Loes' scale should guide the choice of management.
Subject(s)
ATP Binding Cassette Transporter, Subfamily D, Member 1/genetics , Adrenoleukodystrophy/genetics , Adrenoleukodystrophy/diagnostic imaging , Child , Fatty Acids/blood , Humans , Magnetic Resonance Imaging , Male , MutationABSTRACT
RESUMEN La encefalomielitis aguda diseminada (ADEM) es una enfermedad desmielinizante del sistema nervioso central (SNQ, de baja prevalencia, con predominio de presentación en población pediátrica. Describir y revisar la presentación clínica de un paciente con ADEM, su proceso diagnóstico y el manejo terapéutico, de acuerdo con la evidencia disponible. Adolescente masculino de 17 años, sin antecedentes de importancia, con cuadro de cefalea hemicraneal derecha, tipo punzada, de alta intensidad, dos semanas de evolución y posterior compromiso agudo neurológico multifocal con encefalopatía, hemiparesia y diplopía. Se realiza estudio con resonancia de cerebro contrastada que pone en evidencia lesiones hiperintensas a nivel de tallo, cerebelo y ganglios basales. Estas lesiones son asimétricas, unilaterales y agudas y siguen el trayecto vascular de la arteria cerebelosa posteroinferior (PICA), sin restricción a la difusión o cambios en mapa ADC. Inicialmente se sospecha evento cerebrovascular (ECV) y se estudia con angiorresonancia normal, ayudas diagnósticas para causas cardioembólicas y trombofilias negativas. Al considerar lesiones no se sugieren cambios de origen isquémico, pero si desmielinizantes. Se inicia manejo con pulsos de metilprednisolona con resolución de hemiparesia y encefalopatía. En seguimiento a 18 meses, el paciente no ha presentado nuevos eventos clínicos o radiológicos. La ADEM es una patología infrecuente en la edad pediátrica, con un diagnóstico basado en la clínica y hallazgos imagenológicos en resonancia magnética. Su presentación clínica puede ser inespecífica y como en este caso simular enfermedad cerebrovascular, y el tratamiento se basa en inmunomoduladores, principalmente corticoides, con una tasa de recuperación favorable en las series previamente reportadas.
SUMMARY Acute disseminated encephalomyelitis (ADEM) is a low-prevalence demyelinating disease of the central nervous system (CNS) with a predominance of presentation in the pediatric population. To describe and review the clinical presentation of a patient with ADEM, its diagnostic process and therapeutic management according to the available evidence. A 17-year-old male adolescent, with a 2-week history of high-intensity right-sided headache, stitching type, subsequent acute multifocal neurological compromise with encephalopathy, hemiparesis, and diplopia. A contrast-enhanced brain resonance study with evidence of hyperintense lesions at the level of the stem, cerebellum, and basal ganglia, asymmetric, unilateral, acute, following the vascular path of the posteroinferior cerebellar artery (PICA), but without restriction to diffusion or changes on the ADC map, so that an initial suspicion of cerebrovascular event (CVD) is made, studying with normal angioresonance, diagnostic aids for negative cardioembolic causes and thrombophilias. Considering that lesions do not suggest changes of ischemic origin, but if they are demyelinating, management with methylprednisolone pulses with resolution of hemiparesis and encephalopathy is initiated. In the 18-month follow-up, the patient has not presented new clinical or radiological events. ADEM, is an infrequent pathology in pediatric age, with a diagnosis based on the clinic and magnetic resonance imaging findings, its clinical presentation may be nonspecific and as in this case simulate cerebrovascular disease, the treatment is based on immunomodulatory treatment, mainly corticosteroids, with a favorable recovery rate in the previously reported series.
Subject(s)
Transit-Oriented DevelopmentABSTRACT
Resumen Objetivo: determinar la prevalencia de prescripción de terapia supresora de ácido (TSA) conformada por los inhibidores de la bomba de protones (IBP) y los antagonistas de los receptores H2 (AR-H2) en pacientes adultos hospitalizados en el Hospital Universitario Fundación Santa Fe de Bogotá (HU-FSFB) que no corresponda con las indicaciones de las guías de práctica clínica (GPC). Métodos: estudio observacional descriptivo de corte transversal que incluyó pacientes adultos hospitalizados en el HU-FSFB con prescripción de TSA de novo, determinando las indicaciones de la TSA y comparándolas con las indicaciones validadas. Se excluyeron los pacientes con prescripción o consumo previo de TSA durante 2 semanas y pacientes internados en la unidad de cuidados intensivos (UCI) o con hospitalización menor de un día. Resultados: entre enero y julio de 2015 se incluyeron 306 pacientes con un promedio de edad de 56,6 (+38) años, con una prevalencia de prescripción de TSA sin indicación basada en la evidencia del 59,5%. Las indicaciones no basadas en la evidencia más comunes fueron profilaxis de sangrado por úlcera gastrointestinal en pacientes de bajo riesgo (64,9%) y causa no establecida (13,7%). Se encontró una asociación estadísticamente significativa entre el tiempo de hospitalización menor de 7 días (odds ratio [OR]: 2,39; intervalo de confianza [IC] 95%: 1,4-3,9) y edad menor de 60 años (OR: 1,9; IC 95%: 1,2-3,03) con prescripción inapropiada de TSA. Conclusión: existe una alta prevalencia (59,5%) de prescripción inapropiada de TSA en pacientes adultos hospitalizados con asociación positiva en menores de 60 años y corta hospitalización en el HU-FSFB.
Abstract Objective: This study's objective was to determine the prevalence of prescriptions of acid suppression therapy consisting of proton pump inhibitors (PPIs) or H2 receptor antagonists (H2RA) in adult patients hospitalized in the Hospital Universitario - Fundación Santa Fe de Bogotá (HU-FSFB - Santa Fe de Bogotá Foundation University Hospital) that are not in accordance with clinical practice guidelines (CPG). Methods: This is a cross-sectional descriptive observational study that included adult patients hospitalized in the HU-FSFB who were treated with acid suppressors for the first time. We determined the indications for prescriptions used and compared them with validated indications. We excluded patients who had previously taken acid suppressants for two weeks, patients admitted to the intensive care unit, and patients who stayed in the hospital for less than one day. Results: Between January and July 2015, 306 patients with an average age of 56.6 years were included in this study. The prevalence of acid suppression prescriptions without indications based on the evidence was 59.5%. The most common indications were prophylaxis of bleeding due to gastrointestinal ulcers in low risk patients (64.9%) and cause not established (13.7%). Statistically significant associations were found between inappropriate prescription of acid suppression and hospitalization times of less than seven days (OR: 2.39 95% CI 1.4-3.9) and ages of less than 60 years (OR: 1.9 95% CI 1.2-3.03). Conclusion: The prevalence of inappropriate prescriptions of acid suppression for adult patients hospitalized in the HU-FSFB was (59.5%). There were positive associations with ages under 60 years and short hospital stays.