Status epilepticus as clinical manifestation of adrenomyeloneuropathy: a rare association

Abstract Adrenomyeloneuropathy (AMN) is a form of the X-linked adrenoleukodystrophy (ALD), a rare peroxisomal beta-oxidation disorder causing the accumulation of very long-chain fatty acids (VLCFAs) in adrenal cortex and central and peripheral nervous system. We present the case of a 48-year-old man with genetically confirmed AMN, who presented to the Emergency Department with convulsive status epilepticus. The brain MRI showed extensive leukoencephalopathy and demyelination involving bilateral subcortical and deep white matter, corticospinal tracts, corpus callosum and the pons. Correction of laboratory abnormalities and therapy with intravenous levetiracetam, oral phenytoin and perampanel led to significant clinical improvement and resolution of the seizures. Convulsive status epilepticus may be a clinical manifestation of X-linked AMN.