Adrenomyeloneuropathy (AMN): Case Report | 1995, Volume 1 - Issue 3

Şakir FADILOĞLU¹, Raif ÇAKMUR¹, Birsen KESKİN¹, Meral FADILOĞLU², Sevinç BİBEROĞLU³, Handan GÜLERYÜZ⁴

¹Dokuz Eylül Üniversitesi Tıp Fak.,Nöroloji ABD.
²Dokuz Eylül Üniversitesi Tıp Fak.,Biyokimya ABD.
³Dokuz Eylül Üniversitesi Tıp Fak.,Endokrinoloii ABD.
⁴Dokuz Eylül Üniversitesi Tıp Fak.,Radyoloji ABD.

Keywords: Adrenomyeloneuropathy, spastic paraparesia, VLCFA.

Abstract

Here we report a 27year-old male who had been previously misdiagnosed as having'familial spastic paraparesia 11 because of his family history. Diagnosis ofadrenomyeloneuropathy (AMN) was suspected with clinical features, laboratory data ofadrenal irısufficiency and electrophysiological signs of peripheral neuropathy. AMN wasdiagnosed with increased levels of saturated very-long-chain fatty acids (VLCFA). Cranialand spinal MRI investigations also supported the diagnosis of AMN. Administration of adietary regimen with resiriction of VLCFA caused improvement of neurological disability, as well as electrophysiological parameters. AMN should be kept in mind in differentialdiagnosis of spastic paraparesia, especially of familial spastic paraparesia, because of itspartial curability with dietary restriction.