Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy

被引:7
作者
Potic, Ana [1 ]
Popovic, Vera [2 ]
Ostojic, Jelena [3 ]
Pekic, Sandra [2 ]
Kozic, Dusko [4 ]
Guerrero, Kether [5 ,6 ]
Schiffmann, Raphael [7 ]
Bernard, Genevieve [5 ,6 ]
机构
[1] Univ Belgrade, Fac Med, Dept Neurol, Clin Child Neurol & Psychiat, Belgrade 11000, Serbia
[2] Univ Belgrade, Fac Med, Dept Neuroendocrinol, Inst Endocrinol Diabet & Metab Dis, Belgrade 11000, Serbia
[3] Univ Novi Sad, Fac Med, Dept Radiol, Clin Ctr Vojvodina, Novi Sad 21000, Serbia
[4] Univ Novi Sad, Fac Med, Dept Radiol, Oncol Inst Vojvodina, Novi Sad 21000, Serbia
[5] McGill Univ, Ctr Hlth, Montreal Childrens Hosp, Dept Pediat, Montreal, PQ H3H 1P3, Canada
[6] McGill Univ, Ctr Hlth, Montreal Childrens Hosp, Dept Neurol & Neurosurg, Montreal, PQ H3H 1P3, Canada
[7] Baylor Res Inst, Inst Metab Dis, Dallas, TX 75226 USA
关键词
4H leukodystrophy; POLR3A; Neurogenic bladder; Prolactin; HYPOMYELINATING LEUKODYSTROPHIES; MUTATIONS;
D O I
10.1186/s12883-015-0283-7
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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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页数:4
相关论文
共 12 条
[1]  
Bernard G., 1993, GENEREVIEWS
[2]   Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism [J].
Daoud, Hussein ;
Tetreault, Martine ;
Gibson, William ;
Guerrero, Kether ;
Cohen, Ana ;
Gburek-Augustat, Janina ;
Synofzik, Matthis ;
Brais, Bernard ;
Stevens, Cathy A. ;
Sanchez-Carpintero, Rocio ;
Goizet, Cyril ;
Naidu, Sakkubai ;
Vanderver, Adeline ;
Bernard, Genevieve .
JOURNAL OF MEDICAL GENETICS, 2013, 50 (03) :194-197
[3]   Neurogenic Bladder [J].
Dorsher, Peter T. ;
McIntosh, Peter M. .
ADVANCES IN UROLOGY, 2012, 2012
[4]   Isolated Prolactin Deficiency Associated With Serum Autoantibodies Against Prolactin-Secreting Cells [J].
Iwama, Shintaro ;
Welt, Corrine K. ;
Romero, Christopher J. ;
Radovick, Sally ;
Caturegli, Patrizio .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2013, 98 (10) :3920-3925
[5]   Brain Magnetic Resonance Imaging (MRI) Pattern Recognition in Pol III-Related Leukodystrophies [J].
La Piana, Roberta ;
Tonduti, Davide ;
Dressman, Heather Gordish ;
Schmidt, Johanna L. ;
Murnick, Jonathan ;
Brais, Bernard ;
Bernard, Genevieve ;
Vanderver, Adeline .
JOURNAL OF CHILD NEUROLOGY, 2014, 29 (02) :214-220
[6]   Urinary incontinence in women [J].
Norton, P ;
Brubaker, L .
LANCET, 2006, 367 (9504) :57-67
[7]   4H Syndrome With Late-Onset Growth Hormone Deficiency Caused by POLR3A Mutations [J].
Potic, Ana ;
Brais, Bernard ;
Choquet, Karine ;
Schiffmann, Raphael ;
Bernard, Genevieve .
ARCHIVES OF NEUROLOGY, 2012, 69 (07) :920-923
[8]   Hypomyelinating Leukodystrophies: Translational Research Progress and Prospects [J].
Pouwels, Petra J. W. ;
Vanderver, Adeline ;
Bernard, Genevieve ;
Wolf, Nicole I. ;
Dreha-Kulczewksi, Steffi F. ;
Deoni, Sean C. L. ;
Bertini, Enrico ;
Kohlschuetter, Alfried ;
Richardson, William ;
Ffrench-Constant, Charles ;
Koehler, Wolfgang ;
Rowitch, David ;
Barkovich, A. James .
ANNALS OF NEUROLOGY, 2014, 76 (01) :5-19
[9]   Estrogens and the Lower Urinary Tract [J].
Robinson, Dudley ;
Cardozo, Linda .
NEUROUROLOGY AND URODYNAMICS, 2011, 30 (05) :754-757
[10]   Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination [J].
Shimojima, Keiko ;
Shimada, Shino ;
Tamasaki, Akiko ;
Akaboshi, Shinjiro ;
Komoike, Yuta ;
Saito, Akira ;
Furukawa, Toru ;
Yamamoto, Toshiyuki .
BRAIN & DEVELOPMENT, 2014, 36 (04) :315-321