Susac syndrome with the typical clinical triad: A case report and literature review.

Susac syndrome is an immune-mediated microvascular disease characterized by the clinical triad of acute multiple encephalopathies, branch retinal artery occlusion, and sensorineural hearing loss. However, the typical clinical triad is not seen in all patients at disease onset. In this study, a 29-year-old male was admitted to our hospital due to aggravation of headache accompanied by retarded reaction. After treatment for a diagnosis of possible central nervous system vasculitis, the patient's retarded reaction and neurological dysfunction were improved. One year after discharge, the patient had no abnormal clinical symptoms and he discontinued taking prednisone voluntarily five months after discharge. Two years later, the patient was admitted to our hospital again owing to a sudden visual field defect in the superonasal quadrant of the left eye for one week, and Susac syndrome was diagnosed. After treatment, the patient's condition became stabilized with no further progress, but the visual field defect did not recover. At the onset of Susac syndrome, the typical clinical triad of Susac syndrome is rare, so this disease is difficult to be recognized at the beginning. The case we report presented the clinical triad two years after the disease onset. We expect that this case report will increase physicians' understanding of Susac syndrome.

[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome].

Objective To summarize clinical characteristics and investigate possible pathogenic gene of Klippel-Feil syndrome(KFS)by the self-designed multigene panel sequencing,so as to decipher the molecular basis for early diagnosis and targeted therapy.Methods From January 2015 to December 2018,we consecutively recruited 25 patients who were diagnosed with KFS in Peking Union Medical College Hospital.The demographic information,clinical manifestations,physical examination and radiological assessments were analyzed.Multigene panel sequencing was performed after DNA extraction from peripheral blood.The possible pathogenic mutations of KFS were explored on the basis of bioinformatics analysis.Results The KFS cohort consisted of 25 patients,including 15 males and 10 females,with a mean age of(12.9±7.3)years.Limited cervical range of motion was the most common clinical feature(12 cases,48%).Based on the Samartzis classification,the proportion of patients suffered from short neck(P=0.031)and limited cervical range of motion(P=0.026)in type Ⅲ KFS was significantly higher than that in type Ⅱ and type Ⅰ KFS.Panel sequencing detected a total of 11 pathogenic missense mutations in eight patients,including COL6A1,COL6A2,CDAN1,GLI3,FLNB,CHRNG,MYH3,POR,and TNXB.There was no pathogenic mutation found in five reported pathogenic genes(GDF6,MEOX1,GDF3,MYO18B and RIPPLY2)associated with KFS.Conclusions Our study has shown that patients with multiple contiguous cervical fusions are more likely to manifest short neck,limited cervical range of motion,and clinical triad.Therefore,these patients need additional attention and follow-up.Our analysis highlights novel KFS-related genetic variants,such as COL6A and CDAN1,extending the spectrum of known mutations contributing to this syndrome and providing a basis for elucidating the pathogenesis of KFS.

Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome / 中国医学科学院学报

Objective To summarize clinical characteristics and investigate possible pathogenic gene of Klippel-Feil syndrome(KFS)by the self-designed multigene panel sequencing,so as to decipher the molecular basis for early diagnosis and targeted therapy.Methods From January 2015 to December 2018,we consecutively recruited 25 patients who were diagnosed with KFS in Peking Union Medical College Hospital.The demographic information,clinical manifestations,physical examination and radiological assessments were analyzed.Multigene panel sequencing was performed after DNA extraction from peripheral blood.The possible pathogenic mutations of KFS were explored on the basis of bioinformatics analysis.Results The KFS cohort consisted of 25 patients,including 15 males and 10 females,with a mean age of(12.9±7.3)years.Limited cervical range of motion was the most common clinical feature(12 cases,48%).Based on the Samartzis classification,the proportion of patients suffered from short neck(P=0.031)and limited cervical range of motion(P=0.026)in type Ⅲ KFS was significantly higher than that in type Ⅱ and type Ⅰ KFS.Panel sequencing detected a total of 11 pathogenic missense mutations in eight patients,including COL6A1,COL6A2,CDAN1,GLI3,FLNB,CHRNG,MYH3,POR,and TNXB.There was no pathogenic mutation found in five reported pathogenic genes(GDF6,MEOX1,GDF3,MYO18B and RIPPLY2)associated with KFS.Conclusions Our study has shown that patients with multiple contiguous cervical fusions are more likely to manifest short neck,limited cervical range of motion,and clinical triad.Therefore,these patients need additional attention and follow-up.Our analysis highlights novel KFS-related genetic variants,such as COL6A and CDAN1,extending the spectrum of known mutations contributing to this syndrome and providing a basis for elucidating the pathogenesis of KFS.

A clinical TRIAD for early suspicion of autoimmune encephalitis as a possibility in patients presenting with progressive cognitive decline.

Patients with progressive cognitive decline mostly suffer from degenerative disease and carry a relatively poor prognosis. But small groups among these patients have a potentially treatable cause of illness and therefore every patient with dementia needs to be considered treatable unless proved otherwise. This group can be identified only by high degree of suspicion based on clinical clues. We have evaluated the validity of some simple clinical clues which we noticed in our patients with immune mediated dementias. The Panic score, Epsworth sleepiness score, catatonic symptoms and history of seizures were compared between 23 and 11 patients with serologically confirmed anti-NMDA antibody and anti-VGKC antibody associated encephalitis respectively. They were compared with 20 patients with probable behavioral variant of Frontotemporal dementia (bvFTD) and 20 patients with probable Alzheimer's disease (AD). Chi-square test was used to compare across the groups and there was significant difference (P < 0.05) across the 4 groups comprising anti NMDA encephalitis, anti VGKC encephalitis, FTD and AD among the four variables (Panic scores, Catatonic symptoms, Epsworth sleepiness score and seizures) studied. Our study revealed that panic and sleepiness is highly significant when tested across all groups and catatonia showed a trend towards NMDA and when compared with degenerative dementia versus immune mediated syndromes all the 4 parameters were highly significant This simple bedside TRIAD of panic, sleepiness with either of catatonia or seizures if found in patients it is appropriate to order antibody assessment before anything else is planned. This needs to be evaluated in a larger sample.

Increased Sleep Disturbances and Pain in Veterans With Comorbid Traumatic Brain Injury and Posttraumatic Stress Disorder.

STUDY OBJECTIVES: Veterans are at an increased risk for traumatic brain injury (TBI) and posttraumatic stress disorder (PTSD), both of which are associated with sleep disturbances and increased pain. Furthermore, sleep disturbances and pain are reciprocally related such that each can exacerbate the other. Although both TBI and PTSD are independently linked to sleep disturbances and pain, it remains unclear whether Veterans with comorbid TBI+PTSD show worse sleep disturbances and pain compared to those with only TBI or PTSD. We hypothesized that sleep and pain would be worse in Veterans with comorbid TBI+PTSD compared to Veterans with only TBI or PTSD. METHODS: Veterans (n = 639) from the VA Portland Health Care System completed overnight polysomnography and self-report questionnaires. Primary outcome variables were self-reported sleep disturbances and current pain intensity. Participants were categorized into four trauma-exposure groups: (1) neither: without TBI or PTSD (n = 383); (2) TBI: only TBI (n = 67); (3) PTSD: only PTSD (n = 126); and (4) TBI+PTSD: TBI and PTSD (n = 63). RESULTS: The PTSD and TBI+PTSD groups reported worse sleep compared to the TBI and neither groups. The TBI+PTSD group reported the greatest pain intensity compared to the other groups. CONCLUSIONS: These data suggest sleep and pain are worst in Veterans with TBI and PTSD, and that sleep is similarly impaired in Veterans with PTSD despite not having as much pain. Thus, although this is a complex relationship, these data suggest PTSD may be driving sleep disturbances, and the added effect of TBI in the comorbid group may be driving pain in this population.