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1.
AJNR Am J Neuroradiol ; 27(1): 204-7, 2006 Jan.
Article in English | MEDLINE | ID: mdl-16418384

ABSTRACT

We describe how proton MR spectroscopy ((1)H-MR spectroscopy) was useful in elucidating the diagnosis of galactosemia in an undiagnosed 6-month-old infant. In vivo (1)H-MR spectroscopy of the brain showed a doublet at 3.7 parts per million, which was identified as galactitol (Gal-ol) by in vitro (1)H-MR spectroscopy of the urine. Galactosemia was subsequently confirmed by laboratory tests and treatment was initiated. A follow-up brain MR imaging and (1)H-MR spectroscopy study revealed resolution of white matter lesions and disappearance of Gal-ol peaks.


Subject(s)
Brain Chemistry , Galactitol/analysis , Galactosemias/diagnosis , Magnetic Resonance Spectroscopy , Brain/pathology , Female , Galactitol/urine , Galactosemias/diet therapy , Humans , Infant , Magnetic Resonance Imaging
2.
Neurology ; 62(7): 1206-9, 2004 Apr 13.
Article in English | MEDLINE | ID: mdl-15079028

ABSTRACT

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.


Subject(s)
Aspartic Acid/analogs & derivatives , Brain Diseases/diagnosis , Brain/pathology , Calcinosis/diagnosis , Central Nervous System Cysts/diagnosis , Retinal Diseases/diagnosis , Adolescent , Aspartic Acid/metabolism , Brain/metabolism , Brain Diseases/complications , Brain Diseases/pathology , Calcinosis/complications , Central Nervous System Cysts/complications , Child , Choline/metabolism , Creatine/metabolism , Diffusion Magnetic Resonance Imaging , Disease Progression , Female , Humans , Lactic Acid/metabolism , Magnetic Resonance Imaging , Magnetic Resonance Spectroscopy , Male , Rare Diseases/diagnosis , Retinal Diseases/complications , Syndrome , Tomography, X-Ray Computed
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