Reversible diffuse white matter lesion in alagille syndrome

A boy with genetically confirmed Alagille syndrome was incidentally found to manifest striking diffuse hyperintensity of the white matter on T ₂-weighted cranial magnetic resonance images. He never exhibited signs of hepatic encephalopathy. For his progressive liver failure, he underwent a live-donor liver transplant at age 2 years, which unexpectedly resulted in a near-complete resolution of the diffuse white matter lesion. Reversible white matter lesions attributed to cerebral edema were reported in adult patients with liver cirrhosis, but not in the pediatric population. The diffuse reversible white matter lesion in the present case demonstrated T₂ hyperintensity, coupled with restricted diffusion confirmed by apparent diffusion coefficient, and was suggestive of etiologies such as ischemia or cytotoxic edema rather than vasogenic edema.