A.V. BORODIN

Moscow Regional Research and Scientific Clinical Institute named after M.F Vladimirsky, 61/2 Schepkin Stt., buld. 10, Moscow, Russian Federation, 129110

Borodin A.V. ― Neurologist of the Department of Neurology, tel. +7-909-699-87-11, e-mail: borodinonav@yandex.ru, ORCID ID: 000-0002-8439-7783

Multiple sclerosis is one of the common neurological diseases. The MRI of the brain revealed foci of demyelination in the white matter. However, a similar picture of the MRI may happen in course of other diseases, including hereditary.

Objective ― to assess the proportion of misdiagnosis of multiple sclerosis and the structure of the detected pathology.

Material and methods. 19 cases of hospitalization of patients admitted to the Department of Neurology with a diagnosis of multiple sclerosis. 6 patients with multiple sclerosis, who originally had another diagnosis, and 16 patients referred to the medical-genetic laboratory of Moscow Regional Scientific and Research Clinical Institute named after M.F. Vladimirskiy with a diagnosis of multiple sclerosis. Patients underwent molecular genetic research, the determination of lactate to exclude hereditary diseases, the study of antibodies to borreliosis, antibodies to phospholipids to exclude diseases that can imitate multiple sclerosis.

Results. Among 19 patients hospitalized in the Department of Neurology with a presumptive diagnosis of multiple sclerosis in three cases (15.8%), the diagnosis was changed (in 1 case the diagnosis was Khakim ― Adams syndrome, in 1 ― chronic hypertensive encephalopathy and in one more ― encephalopathy). In 6 cases, on the contrary, patients who initially had other diagnoses (volume formation of the thoracic spinal cord, lumbar sciatica, acute cerebrovascular accident, encephalopathy, myeloploneuropathy, myelopathy, neurodegenerative disease) were diagnosed with multiple sclerosis on discharge. In the medicogenetic laboratory 4 of 16 patients (25%) had the changed diagnosis. Hereditary pathology was diagnosed in 3 patients (18.8%) (SANDO syndrome, leukoencephalopathy with involvement of the brain and spinal cord stem and elevated lactate content during spectroscopy, CADASIL syndrome). One patient was diagnosed with toxic encephalopathy as a result of carbon monoxide poisoning.

Discussion. The study showed that in 1/5 of the patients with the initial diagnosis of multiple sclerosis with additional research revealed another pathology, including hereditary diseases that do not require the use of expensive immunomodulatory therapy.

Conclusion. The proportion of incorrect diagnoses in patients with multiple sclerosis was determined for the first time in Russia. Multiple sclerosis in 11.4% of cases is diagnosed with hereditary diseases among patients with a presumptive diagnosis.

Key words: multiple sclerosis, mitochondrial diseases, SANDO syndrome, CADASIL syndrome.

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