The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature.

RATIONALE: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid deposition disorder characterized by systemic signs and neurological dysfunction. The radiological features of CTX are infrequently summarized in the literature. PATIENT CONCERNS: We described a 40-year-old male patient who repeatedly engaged in wrestling matches and presented with progressive difficulty in walking and reduced balance with egg-sized, hard, smooth, and painless masses in both ankles. DIAGNOSIS: Neuroimaging examination showed abnormalities both supra- and infratentorially. Bilateral ankle joint magnetic resonance imaging showed bilateral xanthomata of the Achilles tendon. The diagnosis was confirmed by the detection of a sterol 27-hydroxylase gene mutation. INTERVENTIONS: The patient was treated with chenodeoxycholic acid (250 mg 3 times per day). OUTCOMES: To date, the patient's bilateral xanthomas of the Achilles tendon have begun to diminish, and his neurological impairment has not deteriorated further but has not yet improved. LESSONS: We report a rare case of CTX and summarize the clinical and imaging features of this disease. Our findings suggest that the abnormal signals in the dentate nucleus or a long spinal cord lesion involving the central and posterior cord, combined with tendon xanthoma, are important clues for the diagnosis of CTX.

Preferentially Disrupted Core Hubs Within the Default-Mode Network in Patients With End-Stage Renal Disease: A Resting-State Functional Magnetic Resonance Imaging Study.

Neuroimaging evidence implies that cognitive impairment in patients with end-stage renal disease (ESRD) is related to the disruption of the default-mode network (DMN). The DMN can be divided into three functionally independent subsystems, which include the cortical hub subsystem [consisting of the posterior cingulate cortex (PCC) and the anterior medial prefrontal cortex (aMPFC)], the dorsal medial prefrontal cortex (dMPFC) subsystem, and the medial temporal lobe (MTL) subsystem. However, it is unknown how the functional connectivity (FC) in DMN subsystems is differentially impaired in ESRD. This prospective study was carried out at the Affiliated Hospital of Qingdao University, China, between August 2018 and July 2020. Thirty-two ESRD patients and forty-five healthy controls (HCs) were recruited for this study and received resting-state functional magnetic resonance imaging (rs-fMRI) scanning, and FCs on predefined regions of interest (ROIs) were individually calculated in three DMN subsystems using both ROI- and seed-based FC analyses to examine FC alterations within and between DMN subsystems. The two-sample t-test was used for the comparisons between groups. We also tested the associations between FC changes and clinical information using Pearson's correlation analysis. The results demonstrated that ESRD patients, compared with HCs, exhibit reduced FC specifically within the cortical hubs and between the DMN hubs and two subsystems (the dMPFC and MTL subsystems). Moreover, the FC values between the aMPFC and PCC were positively correlated with creatinine and urea levels in the ESRD patients. Our results suggest that the cortical hubs (PCC and aMPFC) are preferentially disrupted and that other subsystems may be progressively damaged to a certain degree as the disease develops.

The role of iron in Parkinson's disease monkeys assessed by susceptibility weighted imaging and inductively coupled plasma mass spectrometry.

Mounting evidences indicated that elevated iron levels in the substantia nigra (SN) have been concerned as the underlying mechanisms of neurodegenerative diseases, including Parkinson's disease (PD). The present study used the 1-Methyl-4-phenyl-1, 2, 3, 6 -tetrahydropyridine (MPTP)-treated cynomolgus monkeys for PD to evaluate the usability of SWI for assessing iron deposition in the cerebral nuclei of PD. The results showed that susceptibility-weighted imaging (SWI) phase values of the ipsilateral (MPTP-lesion side) SN of MPTP-treated monkeys were lower than those in the contralateral SN of MPTP-treated monkeys and the same side of Control monkeys, suggesting that iron deposition were elevated in the affected side SN of MPTP-treated monkeys. Whereas MPTP has not effects on the SWI phase values in other detected brain regions of monkeys, including red nucleus (RN), putamen (PUT) and caudate nucleus (CA). Furthermore, ICP-MS results showed that MPTP increased the iron levels in MPTP injection side, but no in the ipsilateral striatum. Additionally, MPTP treatment did not affect the calcium and manganese levels in the detected brain regions of monkeys. However, Pearson correlation analysis results indicated that there were not relationship between SWI phase values in MPTP-lesion side of SN with the behavioral score, tyrosine hydroxylase (TH)-positive cells number and iron levels in the MPTP-lesion side of midbrain. Taken together, the results confirm the involvement of SN iron accumulations in the MPTP-treated monkey models for PD, and indirectly verify the usability of SWI for the measurement of iron deposition in the cerebral nuclei of PD.

Analysis of white matter characteristics with tract-based spatial statistics according to diffusion tensor imaging in early Parkinson's disease.

OBJECTIVE: To analyze the microstructure of brain white matter according to diffusion tensor imaging (DTI) based on tract-based spatial statistics (TBSS) in early Parkinson's disease (PD). MATERIALS AND METHODS: A total of 31 age- and sex-matched early PD patients and 22 healthy volunteers were recruited in the present study. DTI was performed, and the data analyzed with fsl4.0 software. The fractional anisotropy (FA) was compared between both groups with an independent t test, and the differential area was analyzed. White matter fiber tracts with significant difference in FA between the two groups were selected, and their FAs were measured. Pearson's correlation analysis was employed to analyze the unified Parkinson's disease rating scale (UPDRS) score and its association with FA of different tracts. RESULTS: When compared with healthy volunteers, early PD patients had reduced FA in the following areas: bilateral anterior corona radiate, upper corona radiate, fasciculus arcuatus, crus anterius capsulae internae, crus posterius capsulae internae, capsula externa, posterior thalamic radiation, optic radiation, sagittal layer (including fasciculus arcuatus and inferior fronto-occipital fasciculus), crura fornicis, stria terminalis, fornix, genu, body and pad of corpus callosum, left unciform fasciculus, right cingulate bundle, right medipeduncle, and arcuate fibers in the bilateral frontal, temporal, and occipital lobes (P < 0.05). When compared with healthy volunteers, early PD patients showed abnormal FA of fasciculus in the white matter mainly in following areas: bilateral crus anterius capsulae internae, bilateral capsula externa, right anterior corona radiate, body and pad of bilateral corpus callosum, and left sagittal layer (including fasciculi longitudinalis inferior and fasciculus occipitofrontalis inferior) (P < 0.05). In addition, in early PD patients, the UPDRS score and movement score had no relationship with the FA of different fasciculi in the white matter (P > 0.05). CONCLUSION: There is wide alteration of white matter microstructure in early PD patients, which is characterized by disruption of projection fibers in the descending pathway, limbic system-related fasciculi, corpus callosum, thalamus after radiation, posterior thalamic radiation, Gratiolet's bundle and other fasciculi in the white matter.

Conventional MRI techniques combined with MR sialography on T2-3D-DRIVE in Sjögren syndrome.

AIM: To investigate the value of conventional MRI techniques combined with MR sialography on T2-3D-DRIVE in the diagnosis of Sjögren syndrome (SS). METHODS: 107 patients were divided into SS group and non-SS group. Conventional MRI techniques, such as T1WI, T2WI, and STIR images were used for changes of fat signal in the parotid gland, while the MR sialography were used for ducts dilation of the parotid gland. RESULTS: Among 93 SS patients, MRI identified abnormal fat deposit in the parotid glands in 86 patients. The fat signal based on MRI images showed 7 patients were in stage 0, 28 in stage 1, 14 in stage 2, 32 in stage 3 and 12 in stage 4. T2-3D-DRIVEMR MR sialography identified peripheral ducts dilation in 86 patients. The duct dilation based on MR sialography showed 7 patients in stage 0, 14 patients in stage 1, 44 patients in stage 2, 26 patients in stage 3, and 2 patients in stage 4. On MRI and MR sialography, both had a positive diagnostic rate of 92.5%. When MRI and MR sialography techniques were used together, the positive diagnostic rate increased to 96.8%. However, Kappa test showed that the MRI fat signal staging and MR sialogrpahy duct dilation staging had statistical difference (Kappa = 0.241, P = 0.000). CONCLUSION: T2-3D-DRIVE MR sialography detects peripheral ducts dilation in parotid glands with unmatched spatial resolution, also MRI fat suppression techniques detect diffusive fat deposit in parotid glands with high accuracy. Combining two techniques will provide optimal diagnosis workup for SS.