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Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate‐deficient glycoprotein syndrome
Author(s) -
Holzbach U,
Hanefeld F,
Helms G,
Hanicke W,
Frahm J
Publication year - 1995
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1995.tb13756.x
Subject(s) - medicine , atrophy , white matter , pathology , magnetic resonance imaging , corpus callosum , in vivo magnetic resonance spectroscopy , pons , cerebral atrophy , cerebellum , radiology
Morphologic and metabolic abnormalities in six children aged 2‐9 years with carbohydrate‐deficient glycoprotein (CDG) syndrome were assessed by magnetic resonance imaging (MRI) and localized proton magnetic resonance spectroscopy (MRS). In all patients, MRI revealed pronounced cerebellar atrophy. Follow‐up examinations in two patients suggested early onset and rapid progression in the first years of life. Further pathologies comprised Dandy‐Walker malformation, atrophy of the pons, brain stem and olives, supratentorial frontotemporal cortical atrophy, slightly dilated ventricles and a small corpus callosum. Two patients presented with small cysts in the white matter. The prominent metabolic abnormality detected by proton MRS in five patients was a reduction in N‐acetylaspartate in white matter by more than 20%, indicating loss of vital neuroaxonal tissue. Further findings in white matter were glutamine and 7‐aminobutyrate increases by a factor of 2. One patient with type III CDG syndrome showed the most severe alterations of metabolite concentrations. CDG syndrome, cerebellar atrophy, magnetic resonance imaging, proton magnetic resonance spectroscopy