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

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.

Keywords: GFAP antibodies; GFAP astrocytopathy; Leber's hereditary optic neuropathy; NMOSD; area postrema syndrome; neuromyelitis optica.

FIGURE 1

(a) Case timeline. (b) Brain MRI features during the first (A–C) and the second (D–F) episode, showing the presence of a right (A–C) and left (D–F) APS hyperintense lesion in T2 weighted images. APS, area postrema syndrome; CSF, cerebrospinal fluid; ED, emergency department; IVIG, intravenous immunoglobulin; IVMP, intravenous methylprednisolone.