Metabolic crisis in maple syrup urine disease: an unusual complication of a rare disease: a case report

Abstract

A 19-year-old woman with known maple syrup urine disease presented to hospital with metabolic crisis in the setting of influenza type A infection and intractable vomiting, rapidly progressing to acute cerebral oedema manifesting as refractory seizures and decreased level of consciousness needing emergency intubation and mechanical ventilation, continuous veno-venous haemodiafiltration and thiopentone coma. A computed tomography scan and magnetic resonance imaging of the brain demonstrated classic signs of cerebral oedema secondary to a metabolic crisis from the metabolic disorder. Her management posed multiple challenges to all teams involved due to lack of familiarity and experience in managing this clinical scenario in the adult intensive care setting.

Acute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging Diagnosis

“…The importance of identifying the underlying cause of AE is underscored, as it has therapeutic implications. In fact, as infectious diseases such as influenza may be directly responsible for the clinical syndrome [ 4 ], with direct cytotoxic activity by the virus, it may also be the trigger of a metabolic disorder decompensation [ 6 ], which ultimately was the case in our patient. A comprehensive clinical history, review of toxic and drug consumption, and a thorough laboratory investigation, including complete blood count, electrolyte evaluation, liver enzymes, serum bilirubin, coagulation studies, arterial blood gas, lactate, ammonia levels, CSF studies, and urine and blood screening (particularly for inborn errors of metabolism), are essential.…”