Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.

BACKGROUND

Maple syrup urine disease (MSUD) is an inherited neurometabolic disorder caused by a deficiency of branched-chain α-keto acid dehydrogenase complex activity. There is an accumulation of neurotoxic branched-chain amino acids and their corresponding alpha-ketoacids. During acute metabolic decompensation, there is a high risk of mortality due to encephalopathy and cerebral edema, leading to cerebellar herniation.

SUBJECTS AND

METHODS

This study reviewed the clinical presentation, management, and outcome of adult patients with MSUD who were admitted to our hospital with encephalopathy and cerebral edema during the 8-year study period.

RESULTS

Seven patients were admitted with ten episodes of encephalopathy, and cerebral edema was present during nine episodes. One asymptomatic patient had an elective admission with cerebral edema. Five patients had a full recovery to baseline, while two patients died.

CONCLUSIONS

This study describes the variable clinical presentation of cerebral edema in adult patients with MSUD. Early recognition and prompt treatment of encephalopathy is challenging, particularly in adult patients, as the multidisciplinary teams may not be familiar with this rare disease.