T.R. GALIULLIN, A.R. RAKHMATULLIN, I.V. GALIULLINA, K.Z. BAKHTIYAROVA

Bashkir State Medical University of the MH of RF, 3 Lenin Str., Ufa, Russian Federation, 450008

  Galiullin T.R. — postgraduate student of the Department of Neurology, e-mail: timafantasisto@mail.ru, ORCID ID 0000-0002-4558-6119

Rakhmatullin A.R. — Assistant Lecturer of the Department of Neurology, e-mail: airatraxmatullin@rambler.ru, ORCID ID 0000-0002-8342-3943

Galiullina I.V. — ophthalmologist, e-mail: ilvira.gataullina.93@mal.ru, ORCID ID 0000-0003-0567-9502

Bakhtiyarova K.Z. — D. Sc. (medicine), Professor of the Department of Neurology, tel.: +7-917-404-35-41, e-mail: bsmu-neuro@yandex.ru, ORCID ID 0000-0003-0982-4324

 The article presents a description of a patient with Leber’s hereditary optic neuropathy (LHON) combined with multilocular sclerosis.

Materials and methods. The authors analyze the data of neurological and ophthalmological examinations, liquor and visualization (MRT, OCT) combined with DNA diagnostics and functional methods of research (perimetry, generated visual potentials).

Results. The diagnosis of multilocular sclerosis was confirmed according to MacDonald criteria of 2017, the diagnosis of Leber’s disease was confirmed by genetic examination. An essential part of differential diagnostics is identification of 11778G>A mutation and intrathecal synthesis of oligoclonal immunoglobulin G.

The conclusion. The presented clinical case demonstrates that complex examination of patients with suspected multilocular sclerosis facilitates the timely medical-genetic consultation and medical-social expertise, as well as the pathogenetically substantiated treatment.

Key words: multilocular sclerosis, Leber’s hereditary optic neuropathy, differential diagnostics.

(For citation: Galiullin T.R., Rakhmatullin A.R., Galiullina I.V., Bakhtiyarova K.Z. Difficulties in the differential diagnosis of Leber’s disease and multiple sclerosis (clinical case). Practical Medicine. 2018)

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