Abstract
A 16-month-old, previously healthy male is hospitalized for new onset seizures. Initial investigation is significant for enterovirus/rhinovirus respiratory infection, abnormal T2 signal predominantly in the white matter and scattered microhemorrhages on brain MRI, transaminitis, and thrombocytopenia. His symptoms initially improve on steroid therapy and he is discharged from the hospital. During the ensuing month with the tapering of the steroids, he develops new motor deficits for which he is rehospitalized. His laboratory investigation on readmission is unremarkable. However, there is significant progression of white matter lesions and microhemorrhages on repeat MRI. While in the hospital, he becomes febrile and has seizure recurrence and worsening neurologic symptoms, including cerebral salt wasting and encephalopathy. Subsequent neuroimaging demonstrates cerebral edema and diffuse brain injury. A high index of suspicion for a rare condition ultimately leads us to perform the specialized testing that confirms the diagnosis. We will discuss the diagnostic challenges that arise from an atypical presentation of an uncommon condition, and from the disease progression that is modified by previous interventions.