Colony-stimulating factor-1 receptor (CSF1R)-related leukoencephalopathy (CSF1R-L) is a rare autosomal dominant neurodegenerative disorder caused by mutations in the CSF1R gene. It is typically characterized by rapidly progressive cognitive decline, motor dysfunction, and psychiatric or behavioral abnormalities, leading to significant disability and early mortality. More than 100 mutations of CSF1R have been identified in CSF1R-L, but the clinical-genotype relationship is unclear. This report describes a case of CSF1R-L that initially presented with atypical symptoms of left lower limb pain, numbness, and weakness. Despite the non-specific presentation, comprehensive imaging data were available throughout the disease course. Genetic testing identified a heterozygous missense mutation in exon 18 of the CSF1R gene (c.2508CA, p.Ser836Arg), a novel variant not previously reported in the literature. This case offers valuable insights into the dynamic progression of cranial MRI changes in CSF1R-L, broadens the genetic spectrum of this disease, enhances awareness among clinicians, and provides crucial information for the early diagnosis of this condition.

Colony-stimulating factor-1 receptor (CSF1R)-related leukoencephalopathy (CSF1R-L) is a rare autosomal dominant neurodegenerative disorder caused by mutations in the CSF1R gene. It is typically characterized by rapidly progressive cognitive decline, motor dysfunction, and psychiatric or behavioral abnormalities, leading to significant disability and early mortality. More than 100 mutations of CSF1R have been identified in CSF1R-L, but the clinical-genotype relationship is unclear. This report describes a case of CSF1R-L that initially presented with atypical symptoms of left lower limb pain, numbness, and weakness. Despite the non-specific presentation, comprehensive imaging data were available throughout the disease course. Genetic testing identified a heterozygous missense mutation in exon 18 of the CSF1R gene (c.2508CA, p.Ser836Arg), a novel variant not previously reported in the literature. This case offers valuable insights into the dynamic progression of cranial MRI changes in CSF1R-L, broadens the genetic spectrum of this disease, enhances awareness among clinicians, and provides crucial information for the early diagnosis of this condition.

Objective:To analyze the phenotype and genotype of congenital myasthenic syndrome type 10 (CMS10) caused by DOK7 gene mutation, and to conduct a literature review and summary of this disease. Methods:A retrospective analysis of the clinical characteristics and genetic test results of a patient with CMS10 in Affiliated Nanjing Brain Hospital, Nanjing Medical University in January 2020 was conducted. Whole exon sequencing was applied to high-throughput screen the pathogenic gene in this patient. After finding candidate variants, pathogenic classification was done according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guideline. Sanger sequencing was applied to verify the mutation. Then all patients with DOK7 gene mutations were summarized by searching the literatures through PubMed, CNKI and Wanfang database. Results:The patient was a 51-year-old man who clinically presented with fluctuating quadriparesis and respiratory distress. He was diagnosed as CMS10 with compound mutations in DOK7 (c.1296_1311del16/c.332-1G>A) by clinical information and whole exon and Sanger sequencing. And c.332-1G>A was found to be a novel mutation. Literature review showed that patients with CMS10 with DOK7 gene mutations presented dominant weakness in proximal limbs and axial muscles. Patients with CMS10 would show periodic exacerbation in disease duration with slow progression. Among 71 mutations, frameshift mutation was the most frequent type (38.0%, 27/71), followed by missense mutation (32.4%, 23/71). Exon 7 (35.2%, 25/71) and exon 4 (26.8%, 19/71) were the hotspot regions. c.1124_1127dupTGCC was the most frequent mutation (43.2%, 140/324). The age of onset in patients with homozygous c.1124_1127dupTGCC was older than that in patients with compound heterozygous c.1124_1127dupTGCC [7.5(3.6, 19.8) years vs 1.3(0, 3.8) years, U=350.000, P<0.001]. Conclusions:CMS10 is a slowly progressive autosomal recessive genetic disease characterized by fluctuating muscle weakness, with muscle weakness distribution similar to limb-girdle muscular dystrophy. Frameshift mutation is the most common type in DOK7 gene associated CMS10. c.1124_1127dupTGCC in C-terminal is the most frequent mutation. Early identification of DOK7 gene associated CMS10 is crucial for the treatment and prognosis of this disease.

To Invetigate chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids （CLIPPERS）clinical diagnosis、the imaging manifestations and the course of treatment to raise the awareness of the disease. Methods To retrospectively analyse clinical diagnosis、the imaging manifestations and the course of treatment of 2 patients with CLIPPERS. Results One patient’s Brain MRI having long T1 and slightly longer T2 signal，not significantly high signal in the DWI，in the brain stem、basal ganglia and cerebellar hemisphere. Another patient had long T1 and slightly longer T2 signal，not significantly high signal in the DWI，in the brain stem and cerebellar hemisphere. Two patients’brain MRI with gadolinium foci of enhancement with a curvilinear pattern highly. Theirs’ magnetic resonance vascular examination were normal. Theirs’symptoms and imagings had improving significantly after glucocorticosteroid shocking treatment. One patient relapsed with long-term oral prednisone，after the second glucocorticosteroid shocking，with long-term oral prednisone and glucocorticosteroids，he had obviously improvement. So far，the patient only uses oral azathioprine，he is well. Another patient died of pneumonia for a week after leaving hospital. Conclusion CLIPPERS syndrome has obviously imaging findings on MRI，and having to get better after glucocorticosteroid treating，prompting CLIPPERS syndrome may be a syndrome of heterogeneous etiology，not an independent disease.

OBJECTIVE: To evaluate the auditory performance of infants with cochlear implants at the early stage after surgery, summarize the development of auditory ability, investigate the effect of age at cochlear implantation on auditory performance within the first year after surgery and provide a reference for their habilitation program. METHOD: A total of 272 infants with prelingually profound hearing loss participated in this study, ranging in age at cochlear implantation from 18 to 36 months. The mean age was 21 months with a standard deviation of 7 months. Infants with cochlear implants were divided into three groups according to their age at implantation. Infants in group A were implanted under 18 months of age. Infants in group B were implanted between 18 and 24 months of age. Infants in group C were implanted between 25 and 36 months of age. Categories of auditory performance (CAP) was used to evaluate the auditory performance, which rates auditory abilities in eight categories for a scale of 0 to 7. RESULT: The mean scores of CAP for all infants at each interval were significantly different after implantation. Significant differences were observed in mean scores of CAP among these three groups in 1 and 3 months after switch-on. However there were no significant differences in pre-operation, 6, 9 and 12 months after switch-on. CONCLUSION There is a significant improvement in auditory performance of infants with prelingually profound hearing loss within the first year after cochlear implantation. The age at cochlear implantation has no critical influence on the development of auditory capabilities at the early stage after surgery. CAP is a practical tool which can be used in clinic in China.
Age Factors ; Child, Preschool ; Cochlear Implantation ; Cochlear Implants ; Deafness ; surgery ; Female ; Hearing ; Humans ; Infant

OBJECTIVE: To study the effect of cochlear electrode coverage and different insertion region on speech recognition, especially tone perception of cochlear implant users whose native language is Mandarin Chinese. METHOD: Setting seven test conditions by fitting software. All conditions were created by switching on/off respective channels in order to simulate different insertion position. Then Mandarin CI users received 4 Speech tests, including Vowel Identification test, Consonant Identification test, Tone Identification test-male speaker, Mandarin HINT test (SRS) in quiet and noise. RESULT: To all test conditions: the average score of vowel identification was significantly different, from 56% to 91% (Rank sum test, P < 0.05). The average score of consonant identification was significantly different, from 72% to 85% (ANOVNA, P < 0.05). The average score of Tone identification was not significantly different (ANOVNA, P > 0.05). However the more channels activated, the higher scores obtained, from 68% to 81%. CONCLUSION This study shows that there is a correlation between insertion depth and speech recognition. Because all parts of the basement membrane can help CI users to improve their speech recognition ability, it is very important to enhance verbal communication ability and social interaction ability of CI users by increasing insertion depth and actively stimulating the top region of cochlear.
Adolescent ; Adult ; Cochlear Implantation ; methods ; Cochlear Implants ; Deafness ; rehabilitation ; Humans ; Middle Aged ; Speech Discrimination Tests ; Speech Perception ; Young Adult