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Tumor-like enlargement of the optic chiasm in an infant with Alexander disease |
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| Authors: | Mignot Cyril Desguerre Isabelle Burglen Lydie Hertz-Pannier Lucie Renaldo Florence Gadisseux Jean-François Gallet Serge Pham-Dinh Danielle Boespflug-Tanguy Odile Rodriguez Diana |
| Affiliation: | 1. AP-HP, Service de Neuropédiatrie, Hôpital Armand Trousseau, F-750012 Paris, France;2. Université Pierre et Marie Curie-Paris 6, F-75000 Paris, France;3. INSERM UMR S546, F-75013 Paris, France;4. AP-HP, Service de Neuropédiarie, Hôpital Necker-Enfants Malades, F-75015 Paris, France;5. AP-HP, Service de Génétique, Hôpital Armand Trousseau, F-75012 Paris, France;6. AP-HP, Service de Radiologie Pédiatrique, Hôpital Necker-Enfants Malades, F-75015 Paris, France;g INSERM U663, Université René Descartes, F-75005 Paris, France;h Hôpital Privé d’Antony, F-92166 Antony, France;i Serge Gallet, Service de Pédiatrie, Centre hospitalier de Montluçon, F-03100 Montluçon, France;j Service de Génétique Médicale, CHU de Clermont-Ferrand, Hôtel Dieu, F-63000 Clermont-Ferrand, France;k INSERM, UMR S384, Université Clermont 1, Faculté de Médecine, F-63001 Clermont-Ferrand, France |
| Abstract: | We report a patient with infantile Alexander disease (AXD) due to the recurrent p.Arg79Cys GFAP mutation. In addition to typical AXD abnormalities, magnetic resonance imaging demonstrated a tumor-like lesion of the optic chiasm suggestive of a glioma. A transient papilloedema appeared during the follow-up and the lesion partially regressed despite a worsening of white matter involvement. Rare radiological and pathological tumor-like lesions have already been reported in AXD patients. This patient confirms that enlargement of the optic chiasm is a rare feature of AXD, possibly linked to abnormal astrocytic proliferation. |
| Keywords: | Alexander disease GFAP mutation Optic pathway glioma |
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