ABSTRACT
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.
Subject(s)
Acidosis, Lactic , Acidosis, Lactic/genetics , Agenesis of Corpus Callosum/pathology , Corpus Callosum/pathology , Energy Metabolism/genetics , Humans , MitochondriaABSTRACT
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.
Subject(s)
Arthritis, Rheumatoid , Meningitis , Adult , Arthritis, Rheumatoid/complications , Female , Humans , Meningitis/diagnosis , Meningitis/drug therapy , Rituximab/therapeutic useABSTRACT
No disponible
