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.

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.

Figure 1

Magnetic resonance imaging (MRI) study in the patient with 4H leukodystrophy. (a) T1W (T1-weighted) axial scan of the brain indicating hypomyelination; (b) T2W (T2-weighted) scan of the brain and T2W-hypointensity of the globi pallidi; (c) affection of the middle cerebellar peduncles:T2W scan; (d) T2W-hypointensity of the nucleus dentatus; (e) atrophy of the cerebellum, brainstem, corpus callosum and the adenohypophisis: sagittal T1W scan; (f) the small adenohypophysis: coronal T1W scan + contrast; (g) Magnetic resonance spectroscopy: decreased choline/creatine ratio in the lesions; (h) Diffusion tensor imaging of the brain supporting hypomyelination; (i, j) the unaffected spinal cord: T2W scans.