Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C
https://doi.org/10.20538/1682-0363-2017-3-210-217
Abstract
A clinical description and analysis of cases of Niemann – Pick disease type C in two children are presented.
The difficulty of the diagnosis is due to the polymorphism of clinical manifestations, variability in the age of manifestation, rarity of the disease in the population, and the lack of a simple diagnostic test for mass screening. Isolated hepatosplenomegaly was revealed in the juvenile and late infantile form of Niemann-Pick disease type C. Neurological symptoms are manifested by a gradual decrease in cognitive function, gelastic cataplexy, epileptic seizures, and extrapyramidal disorders. The possibility of clarifying the diagnosis in the presented cases occurs from ages 4 – 7 due to the DNA diagnosis of NPC1 and NPC2 gene mutations.
About the Authors
Irina F. Fedoseeva
Kemerovo State Medical University
Russian Federation
PhD, Associate Professor, Department of Neurology, Neurosurgery and Мedical Genetics, Kemerovo State Medical University, Kemerovo, Russian Federation.
Russian Federation
PhD, Associate Professor, Department of Neurology, Neurosurgery and Мedical Genetics, Kemerovo State Medical University, Kemerovo, Russian Federation.
Tatyana V. Poponnikova
Kemerovo State Medical University
Russian Federation
DM, Professor, Department of Neurology, Neurosurgery and Мedical Genetics, Kemerovo State Medical University, Kemerovo, Russian Federation.
Russian Federation
DM, Professor, Department of Neurology, Neurosurgery and Мedical Genetics, Kemerovo State Medical University, Kemerovo, Russian Federation.
Galina Yu. Galieva
Kemerovo Regional Clinical Hospital
Russian Federation
PhD, Head of the Department for Children with CNS Disease, Mental and Musculoskeletal System, Kemerovo Regional Clinical Hospital, Kemerovo, Russian Federation.
Russian Federation
PhD, Head of the Department for Children with CNS Disease, Mental and Musculoskeletal System, Kemerovo Regional Clinical Hospital, Kemerovo, Russian Federation.
Olga V. Ilyasova
Kemerovo Regional Clinical Hospital
Russian Federation
Doctor Neurologist, Kemerovo Regional Clinical Hospital, Kemerovo, Russian Federation.
Russian Federation
Doctor Neurologist, Kemerovo Regional Clinical Hospital, Kemerovo, Russian Federation.
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Review
For citations:
Fedoseeva I.F., Poponnikova T.V., Galieva G.Yu., Ilyasova O.V. Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C. Bulletin of Siberian Medicine. 2017;16(3):210-217. (In Russ.) https://doi.org/10.20538/1682-0363-2017-3-210-217
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