Adrenomyeloneuropathy and hypothyroidism. A 15 year follow-up case report.
A case of adrenomyeloneuropathy with diffuse focal demyelination throughout the entire central nervous system, is described in a 29 years old, an adult male, who developed Addison's disease at 14 years of age. Since the age of 23 he has been affected by a progressive spastic paraparesis of the inferior limbs associated with urine incontinence. In the last two years reduced cerebral function, peripheral neuropathy, impotence, primary hypothyroidism and high levels of VLCFA plasma concentration have appeared.
Laureti
S
S
Istituto di Patologia speciale medica e Metodologia clinica, Università, Perugia.
Lucarelli
M
M
Santeusanio
F
F
Casucci
G
G
D000326:Adrenoleukodystrophy / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D015415:Biomarkers / Q000097:blood; D003066:Coenzyme A Ligases / Q000097:blood; D004576:Electromyography; D005500:Follow-Up Studies; D008040:Genetic Linkage; D006801:Humans; D007037:Hypothyroidism / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009460:Neurologic Examination; D012097:Repressor Proteins; D029701:Saccharomyces cerevisiae Proteins; D014960:X Chromosome; D000098859:Long-Chain-Fatty-Acid-CoA Ligase
D015415:Biomarkers; D012097:Repressor Proteins; D029701:Saccharomyces cerevisiae Proteins; D003066:Coenzyme A Ligases; C090799:FAA2 protein, S cerevisiae; D000098859:Long-Chain-Fatty-Acid-CoA Ligase