Adrenomyeloneuropathy (AMN): Case Report

Şakir FADILOĞLU, Raif ÇAKMUR, Birsen KESKiN, Meral FADILOĞLU, Sevinç BiBEROĞLU, Handan GÜLERYÜZ

 Here we report a 27 year-old male who had been previously misdiagnosed as having "familial spastic paraparesia" because of his family history. Diagnosis of adrenomyeloneuropathy (AMN) was suspected with clinical features, laboratory data of adrenal insufficiency and electrophysiological signs of peripheral neuropathy. AMN was diagnosed with increased levels of saturated very-long-chain fatty acids (VLCFA). Cranial and spinal MRI investigations also supported the diagnosis of AMN. Administration of a dietary regimen with restriction of VLCFA caused improvement of neurological disability, as well as electrophysiological parameters. AMN should be kept in mind in differential diagnosis of spastic paraparesia, especially of familial spastic paraparesia, because of its partial curability with dietary restriction.