[A case of symptomatic adrenoleukodystrophy heterozygote manifested by spastic paraparesis of late onset].
A case of symptomatic adrenoleukodystrophy (ALD) heterozygote, manifested by spastic paraparesis, was reported. The patient's 9 year-old grandson had ALD, and her 34 year-old daughter, who was the mother of the case of ALD, was asymptomatic but accompanied by elevation of serum very long chain fatty acid (VLCFA). The patient's gait disturbance appeared at age 62 and that gradually worsened. On admission, she showed spasticity on the lower limbs with bilateral Babinski's reflexes, muscle weakness of the lower limbs and interossei muscles of the hand, and mild sensory disturbance on the distal part of all limbs. Serum VLCFA was markedly elevated. There was no abnormal adrenal function. Sensory and motor nerve conduction velocities were within normal limits. A needle EMG examination disclosed long-duration and high-amplitude potentials. Auditory brainstem response (ABR) revealed elongation of III-V wave intervals bilaterally, and somatosensory evoked potential (SEP) showed delayed N20. Brain CT scan revealed no abnormality but MRI (T2 weighted image) showed mild high intensity areas in the capsula interna and cerebral peduncles. The abnormality of MRI suspected that spastic paraparesis may result from involvement of the corticospinal tract of the cerebrum or brainstem though the symptom has been considered due to the lesion of the spinal cord. Examinations of ABR, SEP and MRI were useful methods to make a diagnosis of symptomatic ALD heterozygote.
Nemoto
H
H
Sunohara
N
N
Matsuda
Y
Y
Satoyoshi
E
E
Yagishita
A
A
D000326:Adrenoleukodystrophy / Q000150:complications / Q000235:genetics*; D000368:Aged; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D015493:Paraparesis, Tropical Spastic / Q000209:etiology*; D010375:Pedigree