Leukoencephalopathy, cerebral calcifications, and cysts: new observations.
We describe three cases of the rare syndrome of leukoencephalopathy, brain calcifications, and cysts. Conventional MRI, proton spectroscopy, and diffusion-weighted imaging yielded additional information on the disease. Imaging findings favor increased water content rather than a demyelinating process in the pathophysiology of this disease. Clinical features of Coats disease and consanguinity were also encountered.
Nagae-Poetscher
L M
LM
The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Bibat
G
G
Philippart
M
M
Rosemberg
S
S
Fatemi
A
A
Lacerda
M T C
MT
Costa
M O R
MO
Kok
F
F
Costa Leite
C
C
Horská
A
A
Barker
P B
PB
Naidu
S
S
D000293:Adolescent; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D001927:Brain Diseases / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D002114:Calcinosis / Q000150:complications / Q000175:diagnosis*; D020863:Central Nervous System Cysts / Q000150:complications / Q000175:diagnosis*; D002648:Child; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D038524:Diffusion Magnetic Resonance Imaging; D018450:Disease Progression; D005260:Female; D006801:Humans; D019344:Lactic Acid / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D035583:Rare Diseases / Q000175:diagnosis; D012164:Retinal Diseases / Q000150:complications / Q000175:diagnosis*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
D001224:Aspartic Acid; D019344:Lactic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline