Management of maple syrup urine disease in the Intensive Care and Neonatal Medicine in Monastir

Résumé

Abstract

Background: Leucinosis (maple syrup urine disease, MSUD) is a rare autosomal recessive aminoacidopathy with a severe neurological and vital prognosis. We aimed to describe its clinical and therapeutic features and identify short- and long-term prognostic factors.

Patients and Methods: We conducted a retrospective descriptive study in the Intensive Care and Neonatal Medicine Department of the Maternity Center at CHU Fattouma Bourguiba in Monastir from January 2012 to December 2023. All newborns with leucinosis confirmed by amino acid and organic acid chromatography were included.

Results: Ten neonates were included, mainly from central-western Tunisia (N=5), with consanguinity in 9 cases and a familial history in 8. Neurological symptoms developed after a mean symptom-free interval of 6.5 days, with admission at 12.7 days. Central respiratory distress (N=6), digestive symptoms (N=4), and a characteristic fenugreek odor (N=9) were observed. Initial abnormalities included metabolic acidosis (N=6), hyperlactatemia (N=5), hyperammonemia (N=4), and acute renal failure (N=3). Magnetic resonance spectroscopy confirmed the diagnosis at a mean age of 19.4 days. Management included neurological resuscitation and emergency dietary therapy; peritoneal dialysis was required in one patient. Major complications were metabolic decompensation, healthcare-associated infections, respiratory distress, and metabolic acrodermatitis. Four patients died during short-term follow-up, mainly from infections. Among survivors, long-term outcomes included psychomotor delay (N=2), intellectual disability (N=2), and epilepsy (N=1). Genetic testing identified two different BCKDHB mutations.

Conclusion: Early diagnosis and appropriate management may reduce complications and improve the functional and vital prognosis of patients with MSUD.