Please use this identifier to cite or link to this item:
https://open.uns.ac.rs/handle/123456789/6154
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Ana Potić | en_US |
dc.contributor.author | Vera Popović | en_US |
dc.contributor.author | Jelena Ostojić | en_US |
dc.contributor.author | Sandra Pekić | en_US |
dc.contributor.author | Duško Kozić | en_US |
dc.contributor.author | Guerrero K. | en_US |
dc.contributor.author | Schiffmann R. | en_US |
dc.contributor.author | Bernard G. | en_US |
dc.date.accessioned | 2019-09-30T08:53:02Z | - |
dc.date.available | 2019-09-30T08:53:02Z | - |
dc.date.issued | 2015-03-04 | - |
dc.identifier.uri | https://open.uns.ac.rs/handle/123456789/6154 | - |
dc.description.abstract | © 2015 Potic et al. Background: Pol III-related leukodystrophies, including 4H leukodystrophy, are recently recognized disorders that comprise hypomyelination and various neurologic and non-neurologic clinical manifestations. We report the unique neurologic presentation of the micturition dysfunction in Pol III-related leukodystrophy and describe the novel endocrine abnormalities in this entity. Case presentation: A 32-year-old Caucasian female exhibited chronic urinary incontinence that commenced at the age of 7 years and remained the unexplained symptom more than two decades before the onset of progressive neurologic decline. A transient growth failure and absent sexual development with hypoprolactinemia appeared in the meanwhile. Neurologic, endocrine, neuroradiologic, and genetic evaluation performed only in the patient's thirties, confirmed the diagnosis of 4H leukodystrophy as the only cause of the micturition disturbance. Conclusion: The report shows for the first time that an unexplained chronic bladder dysfunction should be evaluated also as a possible 4H leukodystrophy, thus alerting to the unexpected neurologic and endocrine features in 4H leukodystrophy. | en_US |
dc.language.iso | en | en_US |
dc.relation.ispartof | BMC Neurology | en_US |
dc.subject | 4H leukodystrophy | en_US |
dc.subject | POLR3A | en_US |
dc.subject | Neurogenic bladder | en_US |
dc.subject | Prolactin | en_US |
dc.title | Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy | en_US |
dc.type | Journal/Magazine Article | en_US |
dc.identifier.doi | 10.1186/s12883-015-0283-7 | - |
dc.identifier.pmid | 15 | - |
dc.identifier.scopus | 2-s2.0-84928243527 | - |
dc.identifier.url | https://api.elsevier.com/content/abstract/scopus_id/84928243527 | - |
dc.description.version | Published | en_US |
dc.relation.issue | 1 | en_US |
dc.relation.volume | 15 | en_US |
item.fulltext | No Fulltext | - |
item.grantfulltext | none | - |
crisitem.author.dept | Medicinski fakultet | - |
crisitem.author.dept | Medicinski fakultet, Katedra za radiologiju | - |
crisitem.author.parentorg | Univerzitet u Novom Sadu | - |
crisitem.author.parentorg | Medicinski fakultet | - |
Appears in Collections: | MDF Publikacije/Publications |
SCOPUSTM
Citations
6
checked on May 10, 2024
Page view(s)
17
Last Week
2
2
Last month
0
0
checked on May 10, 2024
Google ScholarTM
Check
Altmetric
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.