Article citationsMore>>
Bezman, L., Moser, A.B., Raymond, G.V., Rinald, P., Watkins, P.A., Smith, K.D., Kass, N.E. and Moser, H.W. (2001) Adrenoleukodystrophy: Incidence, New Mutation Rate, and Results of Extended Family Screening. Annals of Neurology, 49, 512-517. http://dx.doi.org/10.1002/ana.101
has been cited by the following article:
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TITLE:
Adult-Onset Adrenoleukodystrophy with Frontal Lobe Symptoms: A Case Report
AUTHORS:
Maiko Hayashida, Jun Horiguchi
KEYWORDS:
Adrenoleukodystrophy, Very Long Fatty Acid, Frontal Lobe Symptoms
JOURNAL NAME:
Open Journal of Psychiatry,
Vol.5 No.2,
April
10,
2015
ABSTRACT: ALD, which is the X-linked
adrenoleukodystrophy (X-ALD), is a rare inherited metabolic disease caused by
an enzyme deficiency leading to accumulation of saturated very long chain fatty
acid (VLCFA), especially in brain and adrenal cortex. Its prevalence is
currently estimated at 1:30,000 to 50,000 in males in Japan. We report a
34-year-old man, who acts of theft, peep and obscenity with adult onset cerebral
adrenoleukodystrophy (ALD). An elevated VLCFA and a point mutation in the ABCD1
gene confirmed the diagnosis of ALD. Diffusion-weighted MRI revealed a high
intensity area in the white matter of the frontal lobes. T2-weighted image
revealed diffuse high signal intensity in the deep white matter. MR
diffusion-weighted image revealed high signal intensity area in the white
matter of the frontal lobes.Proton magnetic resonance spectroscopy(H-MRS)
of the white matter of the frontal lobes revealed an extreme decrease ofN-acetylaspartate
(NAA) and an increase of the choline (Cho)/creatinine (Cr) ratio. The mildhypoperfusion
was detected in the both cerebral hemispheres by the single photon emission CT
(SPECT). The genetic phenotype was detected and he was diagnosed adult onset
ALD. The only neurological sign was deviant behaviors as frontal lobe symptoms;
despite a diffuse high signal intensity was detected in the deep white matter
in the MRI examination. Psychiatric symptomatology is presented and may be one
of the earliest manifestations of ALD. Psychiatrists as well as and physicians
may encounter ALD.