title: Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors: Ana
authors: A
authors: Potic
authors: Vera
authors: V
authors: Popovic
authors: Jelena
authors: J
authors: Ostojic
authors: Sandra
authors: S
authors: Pekic
authors: Dusko
authors: D
authors: Kozic
authors: Kether
authors: K
authors: Guerrero
authors: Raphael
authors: R
authors: Schiffmann
authors: Geneviève
authors: G
authors: Bernard
mesh_terms: D000328:Adult; D000848:Anodontia / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D001259:Ataxia / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D001921:Brain / Q000473:pathology*; D004958:Estradiol / Q000378:metabolism; D005260:Female; D005640:Follicle Stimulating Hormone / Q000378:metabolism; D006801:Humans; D007006:Hypogonadism / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D056784:Leukoencephalopathies / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D007986:Luteinizing Hormone / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D011388:Prolactin / Q000378:metabolism; D001750:Urinary Bladder, Neurogenic / Q000209:etiology*; D014549:Urinary Incontinence / Q000209:etiology*
chemical_list: D004958:Estradiol; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone