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Co‐occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations

2024; Wiley; Volume: 31; Issue: 9 Linguagem: Inglês

10.1111/ene.16344

1468-1331

Maria Pia Giannoccaro, Luana Morelli, Fortuna Ricciardiello, Vincenzo Donadio, Fiorina Bartiromo, Caterina Tonon, Michele Carbonelli, Giulia Amore, Valério Carelli, Rocco Liguori, Chiara La Morgia,

Cell death mechanisms and regulation

Abstract Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by visual loss, and rarely associated with extraocular manifestations including multiple sclerosis‐like lesions. The association of LHON and neuromyelitis optica spectrum disorders has rarely been reported. Here is reported a case of glial fibrillary acidic protein astrocytopathy presenting with area postrema syndrome in a patient with previously diagnosed recessive LHON due to mutations in the nuclear gene DNAJC30 . This case emphasizes the necessity of extensive investigations for other treatable conditions in patients with LHON and otherwise unexplained extraocular involvement and the possibility that also visual symptoms can respond to immune therapy.