TY - JOUR
T1 - Alexander disease: Early presence of cerebral MRI criteria
AU - Poloni, C.B.
AU - Ferey, S.
AU - Haenggeli, C.A.
AU - Delavelle, J.
AU - Bottani, A.
AU - Salomons, G.S.
AU - van der Knaap, M.S.
AU - Korff, C.M.
PY - 2009
Y1 - 2009
N2 - Alexander disease is a rare neurodegenerative disorder. its most frequent subtype, the infantile form, is characterized by an early onset and a rapid neurological deterioration during the first months of life. Since the publication of cerebral radiological criteria in 2001, the disease has often been recognized by magnetic resonance imaging (MRI) findings. We report the case of a girl who at the age of 3 months presented with partial seizures and a normal neurological examination. MRI revealed the presence of a periventricular rim, extensive frontal white matter abnormalities, abnormalities of the basal ganglia and thalami and contrast enhancement involving optic chiasm, fornix, hypothalamus and mamillary bodies, corresponding to four of the five reported MRI criteria for Alexander disease. Additional MRI abnormalities not described so far were also observed. The diagnosis was confirmed by genetic analysis. This case illustrates that diagnostic MRI abnormalities of Alexander disease may be present at a very young age, long before the appearance of characteristic clinical signs. Early diagnosis by MRI allows prompt counselling of families. (C) 2009 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved
AB - Alexander disease is a rare neurodegenerative disorder. its most frequent subtype, the infantile form, is characterized by an early onset and a rapid neurological deterioration during the first months of life. Since the publication of cerebral radiological criteria in 2001, the disease has often been recognized by magnetic resonance imaging (MRI) findings. We report the case of a girl who at the age of 3 months presented with partial seizures and a normal neurological examination. MRI revealed the presence of a periventricular rim, extensive frontal white matter abnormalities, abnormalities of the basal ganglia and thalami and contrast enhancement involving optic chiasm, fornix, hypothalamus and mamillary bodies, corresponding to four of the five reported MRI criteria for Alexander disease. Additional MRI abnormalities not described so far were also observed. The diagnosis was confirmed by genetic analysis. This case illustrates that diagnostic MRI abnormalities of Alexander disease may be present at a very young age, long before the appearance of characteristic clinical signs. Early diagnosis by MRI allows prompt counselling of families. (C) 2009 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved
U2 - https://doi.org/10.1016/j.ejpn.2008.11.008
DO - https://doi.org/10.1016/j.ejpn.2008.11.008
M3 - Article
C2 - 19128991
SN - 1090-3798
VL - 13
SP - 556
EP - 558
JO - European Journal of Paediatric Neurology
JF - European Journal of Paediatric Neurology
IS - 6
ER -