• Qiao Liu, Fang Li, Jingjing Zhou, Xiaoyu Liu, Jidong Peng, and Lianggeng Gong.
• Department of Medical Imaging Center, Second Affiliated Hospital of Nanchang University, Nanchang, China.
• Medicine (Baltimore). 2022 Dec 16; 101 (50): e32174e32174.

RationaleThe main clinical symptoms of maple syrup urine disease (MSUD) are dehydration, acidosis, nervous system symptoms and intellectual disability. The brain imaging findings were mainly caused by cytotoxic edema. The lesions usually occur at the site consistent with the myelination process of normal neonates. The distribution is mostly symmetric, and the diffusion is obviously limited.Patient ConcernsHerein, we report a rare case of an 8-day-old female patient who presented with abnormal symptoms, such as difficulty eating, convulsions, slow reaction, difficulty in correcting hypoglycemia and severe metabolic disorders. Brain magnetic resonance imaging (MRI) revealed abnormal signal intensity mainly involving the brainstem, cervical spinal cord, bilateral cerebellar hemispheres, basal ganglia, thalamus, precentral gyrus, and postcentral gyrus with characteristic hyperintensity on diffusion-weighted imaging (DWI) sequence. MSUD is rarely reported, while cervical spinal cord involvement is extremely rare.DiagnosesBlood tandem mass spectrometry, urine organic acid detection, and genetic disease overall genetic tests were performed to further confirm the diagnosis of MSUD.InterventionsUnder general anesthesia, she underwent open surgical procedures for liver transplantation.OutcomesThe child was in a stable condition after liver transplantation, and the diet was not restricted.LessonsMSUD in neonates is rare. Our case report and literature review was aim to describe the clinic and imaging characteristics of it, and highlight physicians must be aware of this entity in newborns so as to reduce misdiagnosis due to unfamiliarity.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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