RESUMEN
A 60-year-old man was admitted in the intensive care unit (ICU) for a rapidly progressive respiratory failure due to SARS-CoV-2 infection. He developed numerous complications including acute kidney injury (AKI) requiring prolonged continuous renal replacement therapy (CRRT). Enteral feeding was initiated on day 8. Despite nutritional management, there was a remarkable amyotrophy and weight loss. On day 85 in the ICU, the patient became progressively unresponsive. An extensive metabolic workup was performed, and blood results showed hyperammoniemia and hypertriglyceridemia. Plasma free carnitine level was low, as was also copper. After carnitine supplementation, the neurological condition rapidly improved, and metabolic perturbations regressed. Prolonged CRRT may be complicated by clinically significant deficiency in micronutrients and trace elements.
RESUMEN
Three new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symptomatic at first treatment, administration before the onset of symptoms is significantly more effective. As a consequence, newborn screening programs have been initiated in several countries. In 2018, we launched a 3-year pilot program to screen newborns for SMA in the Belgian region of Liège. This program was rapidly expanding to all of Southern Belgium, a region of approximately 55,000 births annually. During the pilot program, 136,339 neonates were tested for deletion of exon 7 of SMN1, the most common cause of SMA. Nine SMA cases with homozygous deletion were identified through this screen. Another patient was identified after presenting with symptoms and was shown to be heterozygous for the SMN1 exon 7 deletion and a point mutation on the opposite allele. These ten patients were treated. The pilot program has now successfully transitioned into the official neonatal screening program in Southern Belgium. The lessons learned during implementation of this pilot program are reported.