[Symptomatic adrenoleukodystrophy heterozygote with fluctuated neurological symptoms--a case report]

We report a patient with symptomatic adrenoleukodystrophy (ALD) heterozygote, a 57-year-old female, who manifested fluctuated neurological symptoms. She is a mother of the patient with adrenoleukomyeloneuropathy associated with hypoparathyroidism and cerebral calcification. The heterozygote of ALD was diagnosed by elevated levels of very long chain fatty acids in her plasma and erythrocyte membranes. At age 51, she had a disturbance of consciousness, which subsided two months later. Neurologically, bilateral pyramidal tract signs were noted. CT revealed low-density areas in the white matter neighboring the bilateral anterior horns of lateral ventricles and small calcification in the basal ganglia. Four years later, her neurological manifestations including gait disturbance and mental deterioration subacutely progressed. MRI (T2-weighted image) showed diffuse high intensity areas in the cerebral white matter. Adrenal insufficiency, hypoparathyroidism and peripheral neuropathy were not detected. It has been reported that some ALD heterozygotes developed neurological symptoms, which resembled those of the patients with adrenomyeloneuropathy. The presented patient manifested neurological symptoms with fluctuation, which was not common clinical course in the heterozygotes of ALD. On the differential diagnosis of neurological diseases such as multiple sclerosis, cerebrovascular disease or other cerebral white matter diseases, it is important to consider the possibility of ALD heterozygotes.