Transient hydrocephalus as a presenting sign associated with adrenoleukodystrophy

X-linked adrenoleukodystrophy is a progressive neurologic disorder of white matter that has a wide range of clinical phenotypes. In the childhood cerebral form, patients usually present with behavioral or cognitive changes in the first decade, develop progressive visual loss, spastic quadriparesis, dementia, and seizures, and deteriorate to a vegetative state or death within a few years.1 This case report describes a patient who developed transient hydrocephalus as the presenting sign of adrenoleukodystrophy but was otherwise asymptomatic, despite extensive white matter lesions on MRI. A previously healthy 6-year-old boy presented to an emergency room with a 1-day history of progressive headache, mental status changes, and fever. CT of the head revealed dilated lateral but normal third and fourth ventricles (figure, A) and bilateral hypodensities of the temporal lobes and parietal subcortical white matter. The patient was referred to St. Louis Children’s Hospital initially for neurosurgical evaluation. Neurologic examination was notable only for an abnormal mental status, characterized by …