Clinical analysis of five cases of neuronal intranuclear inclusion disease with voiding dysfunction as the initial symptom
10.3760/cma.j.cn112330-20240731-00344
- VernacularTitle:以排尿障碍为首发症状的神经元核内包涵体病5例临床分析
- Author:
Zhihao YUAN
1
;
Guifang SUN
;
Wentao HU
;
Lihui WANG
;
Qi LI
;
Xuechao ZHAO
;
Liang YAN
;
Baoping QIAO
Author Information
1. 郑州大学第一附属医院泌尿外科，郑州 450052
- Publication Type:Journal Article
- Keywords:
Neurogenic bladder;
Neuronal intranuclear inclusion disease;
Voiding dysfunction
- From:
Chinese Journal of Urology
2025;46(5):389-391
- CountryChina
- Language:Chinese
-
Abstract:
Neuronal intranuclear inclusion disease（NIID）is a rare hereditary neurodegenerative disorder that can affect multiple systems. However，it is uncommon for urinary dysfunction to be the initial symptom. This article reports five cases. The five patients began to experience voiding dysfunction such as frequent urination，weak urination，and incomplete urination at the mean ages of 55.4（47 - 65）years old. Four months to twelve years after urinary onset，neurological symptoms such as headache，memory decline，transient loss of consciousness，and unsteady gait began to appear. Four of the five cases had a family history. Brain MRI revealed the “ribbon sign” or “crest sign” in all cases. Skin biopsy revealed eosinophilic inclusions in the cell nuclei，and NOTCH2NLC gene testing identified abnormal GGC mutations. Three of the five patients underwent cystostomy due to secondary hydronephrosis，while the other two received no special treatment. After a follow-up of 18 to 35 months since diagnosis，the patients who underwent cystostomy had normal renal function. Neurological symptoms in all five patients worsened to varying degrees.
