Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.
Case Reports
2010; 31(3): 301-303
PubMed PMID: 20588230
Citation
Keywords:
Adrenal Insufficiency:complications, Adult, Atrophy:complications, Esophageal Achalasia:complications, Heterozygote, Humans, Lacrimal Apparatus Diseases:complications, Male, Mutation, Nerve Tissue Proteins:genetics, Nuclear Pore Complex Proteins:genetics,.
: A 38-year-old male patient was admitted with slowly progressive spastic gait disturbance. Imaging revealed general spinal cord atrophy. Because of adrenal insufficiency, alacrima and achalasia, triple A syndrome was suspected. This is a case report of a triple A syndrome patient with a predominance of neurological features and a new heterozygous compound mutation in triple A syndrome gene....
Citation
Kunte H, Trendelenburg G, Matzen J, Ventz M, Kornak U, Harms L. Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation. Neuro Endocrinol Lett. 2010 Jan; 31(3): 301-303