PURPOSE: Adrenoleukodystrophy is an x-linked genetic disorder characterized by the breakdown of the myelin sheath surrounding nerve cells in the brain and progressive dysfunction of the adrenal gland with 6 possible phenotypes. Lower urinary tract symptoms affect the quality of life of these patients but only sporadic cases have been previously studied by urodynamics. We report to our knowledge the first series in the literature looking at the prevalent pattern. MATERIALS AND METHODS: A total of 14 children and adults 8 to 53 years old (average age 30) with different phenotypes were referred for evaluation. Of the patients 6 had adrenomyeloneuropathy without cerebral involvement (C-) 3 had the adult cerebral form, 3 had the childhood cerebral form, 1 had cerebral involvement (C+) and 1 was asymptomatic. All patients were submitted to a screening protocol, consisting of the self-administered short form questionnaire International Conference on Incontinence Questionnaire-Short Form (ICIQ-SF) and a 3-day voiding diary. Patients were divided in group 1-no urinary symptoms, ICIQ-SF score 0 and no further investigation (3); group 2-frequency/urgency, ICIQ-SF score 1 to 5, uroflowmetry and post-voiding residual urine (4); and group 3-voiding symptoms and incontinence, ICIQ-SF score greater than 5, standard urodynamic examination (7). RESULTS: A neurogenic overactive bladder was the prevalent urodynamic finding (6 of 7 patients), while hypocontractility was found in 1 case. CONCLUSIONS: Vesicosphincteric dysfunction can be explained by spinal and/or cerebral involvement in the different neurological forms of adrenoleukodystrophy. Attempts at treatment with anticholinergics and neuromodulation in 4 of our patients provided temporary benefit with clear subjective amelioration of symptoms and improved quality of life.
PURPOSE:Adrenoleukodystrophy is an x-linked genetic disorder characterized by the breakdown of the myelin sheath surrounding nerve cells in the brain and progressive dysfunction of the adrenal gland with 6 possible phenotypes. Lower urinary tract symptoms affect the quality of life of these patients but only sporadic cases have been previously studied by urodynamics. We report to our knowledge the first series in the literature looking at the prevalent pattern. MATERIALS AND METHODS: A total of 14 children and adults 8 to 53 years old (average age 30) with different phenotypes were referred for evaluation. Of the patients 6 had adrenomyeloneuropathy without cerebral involvement (C-) 3 had the adult cerebral form, 3 had the childhood cerebral form, 1 had cerebral involvement (C+) and 1 was asymptomatic. All patients were submitted to a screening protocol, consisting of the self-administered short form questionnaire International Conference on Incontinence Questionnaire-Short Form (ICIQ-SF) and a 3-day voiding diary. Patients were divided in group 1-no urinary symptoms, ICIQ-SF score 0 and no further investigation (3); group 2-frequency/urgency, ICIQ-SF score 1 to 5, uroflowmetry and post-voiding residual urine (4); and group 3-voiding symptoms and incontinence, ICIQ-SF score greater than 5, standard urodynamic examination (7). RESULTS: A neurogenic overactive bladder was the prevalent urodynamic finding (6 of 7 patients), while hypocontractility was found in 1 case. CONCLUSIONS:Vesicosphincteric dysfunction can be explained by spinal and/or cerebral involvement in the different neurological forms of adrenoleukodystrophy. Attempts at treatment with anticholinergics and neuromodulation in 4 of our patients provided temporary benefit with clear subjective amelioration of symptoms and improved quality of life.
Authors: Johann Hofereiter; Matthew D Smith; Jai Seth; Katarina Ivana Tudor; Zoe Fox; Anton Emmanuel; Elaine Murphy; Robin H Lachmann; Jalesh Panicker Journal: JIMD Rep Date: 2015-03-13