Abstract
We present a case of an inherited disorder of copper metabolism, Menkes disease in which MRI studies revealed the coexistence of T2 hyper-signal in the temporal white matter with an increase of apparent diffusion coefficient indicative of vasogenic oedema combined with T2 hyper-signal of the putamen and head of the caudate and decreased apparent diffusion coefficient indicative of cytotoxic oedema. These unusual MRI features emphasize the interest of newly developed techniques in early diagnosis in Menkes disease. The acute cerebral damage might result from the combined effects of acute metabolic stress due to infectious disease and prolonged status epilepticus, acting on a highly susceptible developing brain. Vasogenic oedema in the temporal white matter could be related to prolonged status epilepticus and vascular abnormalities. Cytotoxic oedema of the putamen and head caudate could result from energetic failure. (authors)
Barnerias, C;
Desguerre, I;
Dulac, O;
Bahi-Buisson, N;
[1]
Boddaert, N;
Hertz-Pannier, L;
[2]
Boddaert, N;
[3]
Guiraud, P;
[4]
Hertz-Pannier, L;
Dulac, O;
Bahi-Buisson, N;
[5]
Hertz-Pannier, L;
Dulac, O;
Bahi-Buisson, N;
[6]
De Lonlay, P;
[1]
Hop Necker Enfants Malades, AP HP, Ctr Reference Malad Metab, F-75743 Paris 15 (France)]
- Hop Necker Enfants Malades, AP-HP, Dept Paediat Neurol and Metab Dis, F-75743 Paris 15 (France)
- Hop Necker Enfants Malad, AP-HP, Dept Pediat Radiol, F-75743 Paris (France)
- CEA, Serv Hosp Frederic Joliot, INSERM, U797, F-91406 Orsay (France)
- Univ Grenoble, Serv Biochim, Genet Hop, Grenoble (France)
- INSERM, U663, F-75015 Paris (France)
- Univ Paris 05, F-75005 Paris (France)
Citation Formats
Barnerias, C, Desguerre, I, Dulac, O, Bahi-Buisson, N, Boddaert, N, Hertz-Pannier, L, Boddaert, N, Guiraud, P, Hertz-Pannier, L, Dulac, O, Bahi-Buisson, N, Hertz-Pannier, L, Dulac, O, Bahi-Buisson, N, De Lonlay, P, and Hop Necker Enfants Malades, AP HP, Ctr Reference Malad Metab, F-75743 Paris 15 (France)].
Unusual magnetic resonance imaging features in Menkes disease.
France: N. p.,
2008.
Web.
doi:10.1016/J.BRAINDEV.2007.12.014.
Barnerias, C, Desguerre, I, Dulac, O, Bahi-Buisson, N, Boddaert, N, Hertz-Pannier, L, Boddaert, N, Guiraud, P, Hertz-Pannier, L, Dulac, O, Bahi-Buisson, N, Hertz-Pannier, L, Dulac, O, Bahi-Buisson, N, De Lonlay, P, & Hop Necker Enfants Malades, AP HP, Ctr Reference Malad Metab, F-75743 Paris 15 (France)].
Unusual magnetic resonance imaging features in Menkes disease.
France.
https://doi.org/10.1016/J.BRAINDEV.2007.12.014
Barnerias, C, Desguerre, I, Dulac, O, Bahi-Buisson, N, Boddaert, N, Hertz-Pannier, L, Boddaert, N, Guiraud, P, Hertz-Pannier, L, Dulac, O, Bahi-Buisson, N, Hertz-Pannier, L, Dulac, O, Bahi-Buisson, N, De Lonlay, P, and Hop Necker Enfants Malades, AP HP, Ctr Reference Malad Metab, F-75743 Paris 15 (France)].
2008.
"Unusual magnetic resonance imaging features in Menkes disease."
France.
https://doi.org/10.1016/J.BRAINDEV.2007.12.014.
@misc{etde_21306413,
title = {Unusual magnetic resonance imaging features in Menkes disease}
author = {Barnerias, C, Desguerre, I, Dulac, O, Bahi-Buisson, N, Boddaert, N, Hertz-Pannier, L, Boddaert, N, Guiraud, P, Hertz-Pannier, L, Dulac, O, Bahi-Buisson, N, Hertz-Pannier, L, Dulac, O, Bahi-Buisson, N, De Lonlay, P, and Hop Necker Enfants Malades, AP HP, Ctr Reference Malad Metab, F-75743 Paris 15 (France)]}
abstractNote = {We present a case of an inherited disorder of copper metabolism, Menkes disease in which MRI studies revealed the coexistence of T2 hyper-signal in the temporal white matter with an increase of apparent diffusion coefficient indicative of vasogenic oedema combined with T2 hyper-signal of the putamen and head of the caudate and decreased apparent diffusion coefficient indicative of cytotoxic oedema. These unusual MRI features emphasize the interest of newly developed techniques in early diagnosis in Menkes disease. The acute cerebral damage might result from the combined effects of acute metabolic stress due to infectious disease and prolonged status epilepticus, acting on a highly susceptible developing brain. Vasogenic oedema in the temporal white matter could be related to prolonged status epilepticus and vascular abnormalities. Cytotoxic oedema of the putamen and head caudate could result from energetic failure. (authors)}
doi = {10.1016/J.BRAINDEV.2007.12.014}
journal = []
issue = {7}
volume = {30}
place = {France}
year = {2008}
month = {Jul}
}
title = {Unusual magnetic resonance imaging features in Menkes disease}
author = {Barnerias, C, Desguerre, I, Dulac, O, Bahi-Buisson, N, Boddaert, N, Hertz-Pannier, L, Boddaert, N, Guiraud, P, Hertz-Pannier, L, Dulac, O, Bahi-Buisson, N, Hertz-Pannier, L, Dulac, O, Bahi-Buisson, N, De Lonlay, P, and Hop Necker Enfants Malades, AP HP, Ctr Reference Malad Metab, F-75743 Paris 15 (France)]}
abstractNote = {We present a case of an inherited disorder of copper metabolism, Menkes disease in which MRI studies revealed the coexistence of T2 hyper-signal in the temporal white matter with an increase of apparent diffusion coefficient indicative of vasogenic oedema combined with T2 hyper-signal of the putamen and head of the caudate and decreased apparent diffusion coefficient indicative of cytotoxic oedema. These unusual MRI features emphasize the interest of newly developed techniques in early diagnosis in Menkes disease. The acute cerebral damage might result from the combined effects of acute metabolic stress due to infectious disease and prolonged status epilepticus, acting on a highly susceptible developing brain. Vasogenic oedema in the temporal white matter could be related to prolonged status epilepticus and vascular abnormalities. Cytotoxic oedema of the putamen and head caudate could result from energetic failure. (authors)}
doi = {10.1016/J.BRAINDEV.2007.12.014}
journal = []
issue = {7}
volume = {30}
place = {France}
year = {2008}
month = {Jul}
}