Acute Metabolic Decompensation As The Onset of Maple Syrup-Scented Urine Disease

Abstract

Introduction: Maple syrup-scented urine disease constitutes a rare condition caused by an inborn error in branched-chain amino acid metabolism. The intermittent presentation with encephalopathy and metabolic acidosis in childhood is a diagnostic challenge and a neurological emergency. Its suspicion and immediate treatment are paramount to improve survival prognosis.

Objective: To report the experience of intermittent clinical presentation of maple syrup smelling urine disease in a pediatric patient admitted twice due to manifestations of encephalopathy.

Case presentation: Nine-year-old female patient with normal prenatal, perinatal and postnatal history, daughter of non-consanguineous parents. At six years of age she presented an episode of metabolic acidosis and cerebral edema; and at nine years of age, an encephalopathy following an appendectomy. The intermittent encephalopathy with cerebral edema demonstrated by cranial tomography and the metabolic acidosis with elevated anion gap led to the suspicion of an aminoacidopathy and the initiation of treatment. Urine metabolic tests confirmed the diagnosis of the aforementioned urine disease.

Conclusions: Although maple syrup urine disease is rare, the presence of intermittent acute episodes of encephalopathy and unexplained metabolic acidosis are considered key to its suspicion and immediate initiation of dietary treatment. The rapidity with which these patients are treated positively influences the prognosis of the disease, the outcome of which is fatal in many cases.