Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C
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 simp...
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| Format: | Article |
| Language: | English |
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Siberian State Medical University (Tomsk)
2017-10-01
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| Series: | Бюллетень сибирской медицины |
| Subjects: | |
| Online Access: | https://bulletin.ssmu.ru/jour/article/view/971 |
| _version_ | 1797872880832217088 |
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| author | Irina F. Fedoseeva Tatyana V. Poponnikova Galina Yu. Galieva Olga V. Ilyasova |
| author_facet | Irina F. Fedoseeva Tatyana V. Poponnikova Galina Yu. Galieva Olga V. Ilyasova |
| author_sort | Irina F. Fedoseeva |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T01:06:07Z |
| format | Article |
| id | doaj.art-314c4ac0b00b4f0c970fb791c1826921 |
| institution | Directory Open Access Journal |
| issn | 1682-0363 1819-3684 |
| language | English |
| last_indexed | 2024-04-10T01:06:07Z |
| publishDate | 2017-10-01 |
| publisher | Siberian State Medical University (Tomsk) |
| record_format | Article |
| series | Бюллетень сибирской медицины |
| spelling | doaj.art-314c4ac0b00b4f0c970fb791c18269212023-03-13T09:58:23ZengSiberian State Medical University (Tomsk)Бюллетень сибирской медицины1682-03631819-36842017-10-0116321021710.20538/1682-0363-2017-3-210-217723Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type CIrina F. Fedoseeva0Tatyana V. Poponnikova1Galina Yu. Galieva2Olga V. Ilyasova3Кемеровский государственный медицинский университет (КемГМУ)Кемеровский государственный медицинский университет (КемГМУ)Кемеровская областная клиническая больницаКемеровская областная клиническая больницаA 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.https://bulletin.ssmu.ru/jour/article/view/971болезнь ниманна – пикатип сдетиэпилептические приступыгепатоспленомегалияофтальмопарез |
| spellingShingle | Irina F. Fedoseeva Tatyana V. Poponnikova Galina Yu. Galieva Olga V. Ilyasova Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C Бюллетень сибирской медицины болезнь ниманна – пика тип с дети эпилептические приступы гепатоспленомегалия офтальмопарез |
| title | Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C |
| title_full | Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C |
| title_fullStr | Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C |
| title_full_unstemmed | Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C |
| title_short | Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C |
| title_sort | clinical observations of late infantile and juvenile forms of niemann pick disease type c |
| topic | болезнь ниманна – пика тип с дети эпилептические приступы гепатоспленомегалия офтальмопарез |
| url | https://bulletin.ssmu.ru/jour/article/view/971 |
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