Clinical features of 3 patients with adrenomyeloneuropathy
10.3760/cma.j.cn115354-20200704-00536
- VernacularTitle:三例肾上腺脊髓神经病患者的临床特点分析
- Author:
Sijia ZHAO
1
;
Tangna SUN
;
Jiaqi DING
;
Jiarui LU
;
Peng GUO
;
Miao BAI
;
Kaixi REN
;
Jun GUO
Author Information
1. 空军军医大学第二附属医院神经内科，西安 710038
- Keywords:
Adrenomyeloneuropathy;
Spastic paraplegia;
ABCD1 gene;
Very long-chain fatty acid
- From:
Chinese Journal of Neuromedicine
2021;20(4):393-397
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the clinical manifestations, imaging characteristics, and diagnoses basis of adrenomyeloneuropathy (AMN).Methods:The clinical data of 3 patients with AMN, admitted to our hospital from November 2016 to April 2019, were retrospectively collected. The clinical manifestations, imaging features, and diagnostic process of these patients were analyzed.Results:Three young male patients had onset with gradual aggravation of unilateral or bilateral lower limb insufficiency. MR imaging showed symmetrical abnormal signals in brainstem in 2 patients, and atrophy of thoracic spinal cord in 1 patient. By target region capture sequencing, mutations in the ABCD1 gene were found in all 3 patients; 2 underwent pedigree validation; the remaining one patient and his mother had failed Sanger sequencing validation due to pseudogene interference, and elevated plasma level of very long chain fatty acid (VLCFA) was noted in this patient. Conclusions:AMN usually initiates in the adulthood with spastic paraplegia as onset. Symmetrical lesions in brainstem or atrophy of spinal cord can be manifested on MR imaging; some patients may be accompanied by adrenocortical insufficiency. The definite diagnosis mainly depends on genetic screening and determination of VLCFA level in the blood.
