Title: Acute encephalopathy and brain abnormalities on magnetic resonance imaging during combination therapy with adrenocorticotropic hormone and vigabatrin for infantile spasms
Abstract: Case presentation: A 11-month-old female patient with Trisomy 21 (Down Syndrome) who developed infantile spasms at 6-months-old. She was diagnosed with West Syndrome and first treated with Vigabatrin (VGB). A positive response was observed, with control of the spams and regression of hypsarrhythmia at the electroencephalogram register. She was well controlled until 10-months-old, when the spasms returned with developmental regression. A treatment with synthetic adrenocorticotropic hormone (ACTH) was started in a low dose, but with partial control of the spasms. It was decided to increase the dose of the ACTH and we observed regression of spasms and recovery of developmental milestones. An oral corticosteroid withdrawal was maintained. She evolved drowsiness, diarrhea, tachycardia, hypotension and abnormal movements, characterized by sudden limb movements (ballismus) and chorea on the face. A treatment for sepsis was initiated, with improvement in laboratory parameters and hypotension, but she persisted with encephalopathy, abnormal movements, paroxysmal tachycardia and diarrhea. A cranial tomography (CT) was performed, showing a symmetrical and bilateral image of hypoattenuation in the basal nuclei. All the clinical abnormalities stopped after withdrawing the VGB. Magnetic Resonance Imaging (MRI) findings showed T2/FLAIR hypersignal in basal nuclei with diffusion restriction.