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BMC Neurology
Published in: BMC Neurology 1/2015

Open Access 01-12-2015 | Case report

Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy

Authors: Ana Potic, Vera Popovic, Jelena Ostojic, Sandra Pekic, Dusko Kozic, Kether Guerrero, Raphael Schiffmann, Geneviève Bernard

Published in: BMC Neurology | Issue 1/2015

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Abstract

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.
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Metadata
Title
Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy
Authors
Ana Potic
Vera Popovic
Jelena Ostojic
Sandra Pekic
Dusko Kozic
Kether Guerrero
Raphael Schiffmann
Geneviève Bernard
Publication date
01-12-2015
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2015
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-015-0283-7

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