Maple syrup urine disease
History of seizures since the 6th day of life. Poor feeding.
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Bilateral symmetrical restricted diffusion with corresponding low ADC value involving cerebellar the white matter, dorsal brainstem, cerebral peduncles, posterior limb of the internal capsule and centrum semiovale.
The features are characteristic of Maple syrup disease. The patient had a family history of one sibling who had died on the 9th day of life with a clinical suspicion of Maple syrup urine disease.
- Jain A, Jagdeesh K, Mane R, Singla S. Imaging in classic form of maple syrup urine disease: a rare metabolic central nervous system. Journal of clinical neonatology. 2013 Apr;2(2):98.