ABSTRACT
Objective:To analyze the clinical characteristics of hereditary diffuse leukoencephalopathy with spheroids (HDLS).Methods:A retrospective analysis was performed. The clinical data of 2 patients with genetically conformed HDLS, admitted to our hospital in August 2020 and October 2021, were collected; and a literature search was conducted in domestic and foreign databases from January 2012 to January 2022 (enrolling a total of 48 patients with HDLS caused by colony-stimulating factor-1 receptor [ CSF1R] gene mutation). The population, clinical, imaging and gene mutation characteristics of these patients were summarized and analyzed. Results:(1) In these 50 patients, 20 were male and 30 were female, with onset age of (40.72±11.27) years; 40 patients (80.0%) had been misdiagnosed. (2) The most common first symptom and sign were progressive cognitive impairment (74.0%) and progressive dementia (80.0%). The patients in the middle and old aged group (≥40 years old, n=31) had significantly higher incidences of progressive cognitive impairment and Parkinson's-like symptom, and statistically lower incidence of muscle weakness as compared with those in the youth group (<40 years old, n=19, P<0.05). (3) The highest incidence of abnormal imaging findings was white matter lesions (100.0%), followed by cerebral atrophy (84.0%), ventricular enlargement (84.0%) and corpus callosum atrophy (60.0%). DWI examination was completed in 28 patients, and all patients showed persistent limitation of diffusion (100.0%). The most affected areas of white matter lesions were around the lateral ventricles, followed by the frontal-parietal occipital lobe, and corpus callosum. The incidence of abnormal signal of central semiovale in youth group was statistically higher than that in middle and old aged group ( P<0.05). (4) A total of 36 CSF1R gene mutations or possibly pathogenic mutations were identified in 50 patients, 21 of which were novel mutations reported for the first time. Of the 47 patients whose mutations were described in detail, 8 (17.0%) and 5 (10.6%) probands carried c. 2381T>C/p. I794T and c.2345G>A/p.R782H, respectively. Conclusions:The clinical manifestations of HDLS are diverse and lack of specificity. The most common first symptom and sign are progressive cognitive impairment and progressive dementia; however, the symptom spectrum and MRI imaging changes of white matter damage are related to age. MRI follow-up and targeted gene testing help reduce misdiagnosis and missed diagnosis of HDLS.
ABSTRACT
Objective:To analyze the clinical characteristics of hereditary diffuse leukoencephalopathy with spheroids (HDLS).Methods:A retrospective analysis was performed. The clinical data of 2 patients with genetically conformed HDLS, admitted to our hospital in August 2020 and October 2021, were collected; and a literature search was conducted in domestic and foreign databases from January 2012 to January 2022 (enrolling a total of 48 patients with HDLS caused by colony-stimulating factor-1 receptor [ CSF1R] gene mutation). The population, clinical, imaging and gene mutation characteristics of these patients were summarized and analyzed. Results:(1) In these 50 patients, 20 were male and 30 were female, with onset age of (40.72±11.27) years; 40 patients (80.0%) had been misdiagnosed. (2) The most common first symptom and sign were progressive cognitive impairment (74.0%) and progressive dementia (80.0%). The patients in the middle and old aged group (≥40 years old, n=31) had significantly higher incidences of progressive cognitive impairment and Parkinson's-like symptom, and statistically lower incidence of muscle weakness as compared with those in the youth group (<40 years old, n=19, P<0.05). (3) The highest incidence of abnormal imaging findings was white matter lesions (100.0%), followed by cerebral atrophy (84.0%), ventricular enlargement (84.0%) and corpus callosum atrophy (60.0%). DWI examination was completed in 28 patients, and all patients showed persistent limitation of diffusion (100.0%). The most affected areas of white matter lesions were around the lateral ventricles, followed by the frontal-parietal occipital lobe, and corpus callosum. The incidence of abnormal signal of central semiovale in youth group was statistically higher than that in middle and old aged group ( P<0.05). (4) A total of 36 CSF1R gene mutations or possibly pathogenic mutations were identified in 50 patients, 21 of which were novel mutations reported for the first time. Of the 47 patients whose mutations were described in detail, 8 (17.0%) and 5 (10.6%) probands carried c. 2381T>C/p. I794T and c.2345G>A/p.R782H, respectively. Conclusions:The clinical manifestations of HDLS are diverse and lack of specificity. The most common first symptom and sign are progressive cognitive impairment and progressive dementia; however, the symptom spectrum and MRI imaging changes of white matter damage are related to age. MRI follow-up and targeted gene testing help reduce misdiagnosis and missed diagnosis of HDLS.
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Objective To observe the serum cortisol level in ischemic stroke patients with obstructive sleep apnea syndrome (OSAS),and discuss the influence factors and its correlation with severity of cerebral infarction.Methods Two hundred ischemic stroke patients with onset of 6 h to 3 weeks,admitted to our hospital from July 2015 to April 2017,were recruited;all patients were monitored with polysomnography.According to apnea hypopnea index (AHI),all patients were divided into ischemic stroke without OSAS group (AHI＜5/h,n=89) and ischemic stroke with OSAS group (AHI≥ 5/h,n=111).Moreover,according to AHI,patients from ischemic stroke with OSAS group were divided into three subgroups,namely,mild subgroup (5/h ≤AHI＜15/h),moderate subgroup (15/h ≤AHI＜30/h) and severe subgroup (AHI ≥30/h).According to National Institutes of Health Stroke Scale (NIHSS) scores,all subjects were divided into a group of NIHSS scores no more than 10 and a group of NIHSS scores＞10.The general clinical data,biochemical indices,early morning blood pressure,serum cortisol level and sleeping parameters were detected and compared among the groups,and the main factors affecting serum cortisol levels were identified by multivariate linear regression analysis.Results (1) The serum cortisol level in ischemic stroke with OSAS patients ([195.41±75.31] μg/L) was significantly higher than that of ischemic stroke without OSAS patients ([158.65±77.28] μg/L,P＜0.05);the serum cortisol level in ischemic stroke with mild OSAS subgroup ([227.32±75.12] μg/L) was significantly increased as compared with that in the ischemic stroke with moderate OSAS subgroup and ischemic stroke with severe OSAS subgroup ([191.27±71.50] μg/L and [175.21±75.13] μg/L,P＜0.05).(2) The serum cortisol level of group of NIHSS scores＞10 was significantly higher than that of group of NIHSS scores ≤ 10 (P＜0.05).(3)AHI,NIHSS scores,longest duration of apnea,and lowest blood oxygen saturation at night had significant effects on serum cortisol levels.Serum cortisol levels increased with AHI (β=89.984,95％CI:71.325-108.644,P=0.000) and NIHSS scores (β=0.923,95％CI:0.377-1.468,P=0.001),increased with the longest sleep apnea (β=0.804,95％CI:0.262-1.325,P=0.000),and decreased with the lowest blood oxygen saturation at night (β=-0.709,95％CI:-0.290--0.041,P=0.000).Conclusion The serum cortisol level in cerebral infarction patients with OSAS was increased,and the higher the severity of cerebral infarction and OSAS is,the higher the serum cortisol level is.
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Objective To quantitatively analyze the dynamic posture in patients with early stage Pakinson disease (ESPD) by using dynamic posture equilibrium equipment. Method Thirty two ESPD patients were recruited in this study, in which, 10 was at Hoehn-Yahr stage 1, 9 at Hoehn-Yahr stage 1.5, 13 at Hoehn-Yahr stage 2. Thirty two age and gen?der matched healthy subjects served as a control group. The sensory organization test (SOT), motion coordination test (MCT), adaptive test (ADT), walk across were performed in those two groups using NeuroCom smart dynamic posture equipment. Results The average composite scores for SOT were 64 and 79 in ESPD patients and control group(P=0.032). The eqilibrium ratio of vision and vestibular sense were obviously lower in ESPD patients than in the control group ( 73.55±3.15 vs. 82.45±3.53, P=0.037;45.25±4.25 vs. 66.43±6.98, P=0.021). MCT showed that ESPD patients had a higher abnormality ratio of centre-of-gravity position compared with controls ( 70.3%vs. 7% )(P<0.001). ESPD pa?tients had 33% and 57% abnormality in ADT and Walk Across, which were obviously higher compared with control group (P<0.001). Conclusions ESPD patients have different degrees of posture disorders and posture equilibrium assess?ment at early stage is beneficial to rehabilitation training.