A clinical case of neuronal ceroid lipofuscinosis type 2
https://doi.org/10.20538/1682-0363-2019-4-244-248
Abstract
Neuronal ceroid lipofuscinoses (NCL, Batten disease) are a group of inherited neurodegenerative diseases characterized by age-related onset, progressive myoclonus epilepsy, visual impairment and progressive intellectual and motor disorders. In all forms of NCL, the pathological autofluorescent lipopigment accumulates in the brain and other tissues. The diagnosis is made following determination of the activity of specific enzymes in blood leukocytes or cell culture of skin fibroblasts and investigation of biopsy specimens with electron microscopy as well as molecular genetic research. The article presents a patient with the onset of the disease at the age of 3 with epileptic tonic-clonic seizures, with further progression of the disease in the form of myoclonic seizures, motor pyramidal and cerebellar disorders, as well as intellectual, mnestic and speech disturbances. The presented clinical case demonstrates difficulties in the diagnosis of neurodegenerative diseases at onset, as well as the absence of pathognomonic signs of the disease during neurophysiological and neuroimaging examinations, which makes it necessary to conduct additional molecular and genetic research
About the Authors
L. S. Kraeva
Siberian State Medical University (SSMU)
Russian Federation
Russian Federation
PhD, Assistant, Department of Neurology and Neurosurgery,
2, Moscow Trakt, Tomsk, 634050
E. S. Koroleva
Siberian State Medical University (SSMU)
Russian Federation
Russian Federation
DM, Professor, Head of the Department of Neurology and Neurosurgery,
2, Moscow Trakt, Tomsk, 634050
V. M. Alifirova
Siberian State Medical University (SSMU)
Russian Federation
Russian Federation
DM, Professor, Head of the Department of Neurology and Neurosurgery,
2, Moscow Trakt, Tomsk, 634050
A. V. Kuzmina
Siberian State Medical University (SSMU)
Russian Federation
Russian Federation
Post-Graduate Student, Department of Neurology and Neurosurgery,
2, Moscow Trakt, Tomsk, 634050
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Review
For citations:
Kraeva L.S., Koroleva E.S., Alifirova V.M., Kuzmina A.V. A clinical case of neuronal ceroid lipofuscinosis type 2. Bulletin of Siberian Medicine. 2019;18(4):244-248. (In Russ.) https://doi.org/10.20538/1682-0363-2019-4-244-248
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