Teaching Neuro Images : Adrenoleukodystrophy presenting as raised intracranial pressure

• DOI: 10.1212/wnl.0b013e3181e042b2
• Publication Date: 2010-05-24T20:28:16Z
• Authors: Atma Ram Bansal; Neeraj N. Baheti; Chaturbhuj Rathore; Chandrasekharan K...
• Keywords: Adrenoleukodystrophy

A 7-year-old boy presented with acute onset headache, vomiting, and visual deterioration 2 weeks previously without any cognitive or behavioral changes.Optic fundi showed papilledema, there were no pyramidal signs gait disturbances.The remainder of the neurologic examination was normal.CSF protein 174 mg/dL.Although MRI features (figure) consistent adrenoleukodystrophy (ALD), atypical presentation prompted consideration alternate diagnoses therapies.Subsequent progressive vision hearing loss, bilateral signs, elevated plasma very-long-chain fatty acids confirmed ALD.Childhood cerebral ALD can present acutely, but rarely raised intracranial pressure. 1Elevated CSF mass effect due to fulmi-nant demyelination inflammation is a possible cause.Familiarity clinical courses classic may avoid unnecessary investigations delayed diagnosis.