RESUMEN
BACKGROUND: Monocarboxylate transporter 1 (MCT1) deficiency has recently been described as a rare cause of recurrent ketosis, the result of impaired ketone utilization in extrahepatic tissues. To date, only six patients with this condition have been identified, and clinical and biochemical details remain incomplete. RESULTS: The present work reports a patient suffering from severe, recurrent episodes of metabolic acidosis and psychomotor delay, showing a pathogenic loss-of-function variation c.747_750del in homozygosity in SLC16A1 (which codes for MCT1). Persistent ketotic and lactic acidosis was accompanied by an abnormal excretion of organic acids related to redox balance disturbances. Together with an altered bioenergetic profile detected in patient-derived fibroblasts, this suggests possible mitochondrial dysfunction. Brain MRI revealed extensive, diffuse bilateral, symmetric signal alterations for the subcortical white matter and basal ganglia, together with corpus callosum agenesia. CONCLUSIONS: These findings suggest that the clinical spectrum of MCT1 deficiency not only involves recurrent atacks of ketoacidosis, but may also cause lactic acidosis and neuromotor delay with a distinctive neuroimaging pattern including agenesis of corpus callosum and other brain signal alterations.
Asunto(s)
Acidosis Láctica , Acidosis Láctica/genética , Agenesia del Cuerpo Calloso/patología , Cuerpo Calloso/patología , Metabolismo Energético/genética , Humanos , MitocondriasRESUMEN
Rheumatoid meningitis is a rare complication of long-standing rheumatoid arthritis. We present the case of a 39-year-old Bolivian woman with a history of seropositive rheumatoid arthritis of 12 years of evolution without extra-articular manifestations that develops a severe headache with vomiting. The diagnosis of rheumatoid meningitis was performed based on clinical history, blood count and biochemistry results, cerebrospinal fluid analysis and cranial magnetic resonance imaging findings. High-dose intravenous glucocorticoids were started, followed by rituximab. After treatment, a significant clinical improvement was observed and repeat magnetic resonance imaging scan confirmed an improvement of the meningeal lesions.
Asunto(s)
Artritis Reumatoide , Meningitis , Adulto , Artritis Reumatoide/complicaciones , Femenino , Humanos , Meningitis/diagnóstico , Meningitis/tratamiento farmacológico , Rituximab/uso terapéuticoAsunto(s)
Adenocarcinoma/diagnóstico por imagen , Betacoronavirus , Neoplasias Óseas/diagnóstico por imagen , Técnicas de Laboratorio Clínico , Infecciones por Coronavirus/diagnóstico , Biopsia Guiada por Imagen/métodos , Neoplasias Pulmonares/diagnóstico por imagen , Pulmón/diagnóstico por imagen , Pandemias , Neumonía Viral/diagnóstico , Sarcoma de Ewing/diagnóstico por imagen , Adenocarcinoma/complicaciones , Adenocarcinoma/patología , Anciano , Betacoronavirus/genética , Betacoronavirus/aislamiento & purificación , Neoplasias Óseas/complicaciones , Neoplasias Óseas/patología , COVID-19 , Prueba de COVID-19 , Infecciones por Coronavirus/complicaciones , Infecciones por Coronavirus/diagnóstico por imagen , Infecciones por Coronavirus/epidemiología , Manejo de la Enfermedad , Femenino , Humanos , Hallazgos Incidentales , Transmisión de Enfermedad Infecciosa de Paciente a Profesional/prevención & control , Neoplasias Pulmonares/complicaciones , Neoplasias Pulmonares/patología , Masculino , Invasividad Neoplásica , Equipo de Protección Personal , Neoplasias Pleurales/diagnóstico por imagen , Neoplasias Pleurales/secundario , Neumonía Viral/complicaciones , Neumonía Viral/diagnóstico por imagen , Neumonía Viral/epidemiología , ARN Viral/sangre , Reacción en Cadena en Tiempo Real de la Polimerasa , Caja Torácica/diagnóstico por imagen , SARS-CoV-2 , Sarcoma de Ewing/complicaciones , Sarcoma de Ewing/patología , Canal Medular/diagnóstico por imagen , Canal Medular/patología , Telecomunicaciones , Adulto JovenRESUMEN
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