[Familial spastic paraparesis: phenotypic variant of adrenoleukodystrophy].
Two brothers developed a slowly progressive paraparesis during adulthood, lately associated in one to primary adrenal and gonadal insufficiency but no electrophysiological evidence of peripheral nerve involvement. Both patients and an asymptomatic sister had increased plasma concentrations of very-long chain fatty acids (VLCFA). A CT-scan of the propositus was initially normal but showed at follow-up diffuse white matter hypodensities consistent with severe demyelination of the centrum semiovale. The appearance of the lesions remained unchanged for the next two years without clinical evidence of supraspinal changes in despite of progression of the paraparesis. We believe that these observations further support a link between the severe infantile variety of adrenoleukodystrophy and the more protracted adult-onset variants. Further, CT-scan in families with spastic paraparesis may be of help in detecting early evidence of an underlying diffuse white matter disorder, eventually supported by more conclusive studies as VLCFA determinations.
de Andrés
C
C
Servicio de Neurología, Hospital General Gregorio Marañón, Madrid.
Giménez-Roldán
S
S
D000326:Adrenoleukodystrophy / Q000150:complications / Q000235:genetics*; D000328:Adult; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005190:Family; D005192:Family Health; D005227:Fatty Acids / Q000097:blood; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D015493:Paraparesis, Tropical Spastic / Q000097:blood / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013030:Spain
D005227:Fatty Acids
Paraparesia espástica familiar: variante fenotípica de adrenoleucodistrofia.