A case of pigmentary orthochromatic leukodystrophy with findings of proton MR spectroscopy and serial brain MRIs.
Despite a few case reports over the last 60 years, little progress has been made in defining the phenotype, genotype and pathophysiological mechanisms involved in pigmentary orthochromatic leukodystrophy (POLD). Furthermore, there is currently no data available regarding MRI in patients in the relatively early stages of POLD. Here, we present a 37 year old male patient with brain biopsy-proven POLD who had brain MRIs three times during the first year of his clinical course and proton MR spectroscopy (MRS) throughout his diagnostic evaluation. This patient with POLD was clinically characterized by seizures, rapidly progressive frontally predominant dementia and gait disturbance. The brain MRIs taken serially over the first year revealed progressive development of frontal-predominant white matter changes in the periventricular areas during the earlier periods, which later spread into the deep white matter. His MRS was helpful in the diagnostic approach because the results enabled demyelinating changes to be distinguished from other disease processes such as ischemia, gliosis or tumors. The MRS findings also reflected the disease dynamics because metabolic derangement was observed, even in the white matter that appeared normal. The findings presented here provide insight into the dynamics of POLD.
Sohn
Sung-Yeon
SY
Department of Neurology, Ajou University School of Medicine, Suwon, Republic of Korea.
Ko
Young-Jin
YJ
Hong
Ji Man
JM
Kim
Se-Hyuk
SH
Kim
Ho-Sung
HS
Kim
Jang-Hee
JH
Chi
Je-Geun
JG
Moon
So Young
SY
D000328:Adult; D015703:Antigens, CD / Q000378:metabolism; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D001927:Brain Diseases / Q000150:complications / Q000175:diagnosis*; D001931:Brain Mapping; D003401:Creatine / Q000378:metabolism; D003711:Demyelinating Diseases / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male
D015703:Antigens, CD; D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine