Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

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 alterationsThis work was funded by grant PI19/01155, B2017/BMD-3721 and the European Regional Development Fund. Open Acces is supported by Fundación Ramón Areces (Grant No. CIVP17A2827

Bone Infarct as an Indicator of Acute Spinal Ischaemia

Acute spinal cord infarct in childhood is extremely rare, generally secondary to spinal/cardiovascular surgery or severe vertebral injuries. However, spontaneous spinal cord infarct cases have been described. We present a clinical case of a teenager who developed an acute weakness and paraesthesia in lower limbs after playing piggyback. Laboratory tests and MRI (magnetic resonance imaging) were normal. During her hospital admission, her motor strength improved. After 10 days, MRI was repeated, and a bone infarct was observed. She was medicated with acetylsalicylic acid, and she completed a rehabilitation program