Clinical featues of adrenoleukodystrophy / 临床神经病学杂志

ABSTRACT

Objective To explore the clinical characteristics of adrenoleukodystrophy (ALD). Methods The clinical date of 14 ALD patients were analyzed retrospectively. Results The 14 ALD patients were boys,the symptoms occurred slowly from 1 to 13 years old. The clinical manifestations of all the ALD patients were mainly mental retardation and disturbances of movement of extremities,9 cases had visual disorders,6 cases had auditory disorders and 13 cases had dysarthria,5 cases had seizure and 6 cases had increased skin pigmentation. The level of plasma very long chain fatty acids (VLCFA) in 5 csaes were increased at some degree.The brain CT from 2 cases and MRI from 12 cases showed butterfly-like focus in periventricle areas in the white matter bilaterally. Lace-like high intensity lesions were observed in 3 cases. Conclusion The clinical features of ALD are progressive dysnoesia,limbs dyskinesia,hypropsia,hearing loss etc,dysfunction of adrenal cortex,the level of plasma VLCFA increased,and with characteristic changes of skull imageological.