Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series.

BACKGROUND: Six percent of patients with Leigh syndrome (LS) present with infantile epileptic spasms syndrome (IESS). However, treatment strategies for IESS with LS remain unclear. This retrospective study aimed to evaluate the efficacy and safety of treatment strategies in patients with IESS complicated by LS and Leigh-like syndrome (LLS). METHODS: We distributed questionnaires to 750 facilities in Japan, and the clinical data of 21 patients from 15 hospitals were collected. The data comprised treatment strategies, including adrenocorticotropic hormone (ACTH) therapy, ketogenic diet (KD) therapy, and antiseizure medications (ASMs); effectiveness of each treatment; and the adverse events. RESULTS: The median age at LS and LLS diagnosis was 7 months (range: 0 to 50), whereas that at the onset of epileptic spasms was 7 (range: 3 to 20). LS was diagnosed in 17 patients and LLS in four patients. Seven, two, five, and seven patients received ACTH + ASMs, ACTH + KD + ASMs, KD + ASMs, and ASMs only, respectively. Four (44%) of nine patients treated with ACTH and one (14%) of seven patients treated with KD achieved electroclinical remission within one month of treatment. No patients treated with only ASMs achieved electroclinical remission. Seven patients (33%) achieved electroclinical remission by the last follow-up. Adverse events were reported in four patients treated with ACTH, none treated with KD therapy, and eight treated with ASMs. CONCLUSION: ACTH therapy shows the best efficacy and rapid action in patients with IESS complicated by LS and LLS. The effectiveness of KD therapy and ASMs in this study was insufficient.

Anti-inflammatory and immune-mediated therapy for a case of febrile infection-related epilepsy syndrome with rapid recurrence.

Febrile infection-related epilepsy syndrome (FIRES) is a disease of unknown etiology, characterized by refractory frequent focal seizures, which require prolonged intensive care. We successfully treated a boy with FIRES with anti-inflammatory and immunosuppressive therapy. This case suggests that an autoimmune mechanism may play a role in the development of FIRES.

Comparison of comfortable and maximum walking speed in the 10-meter walk test during the cerebrospinal fluid tap test in iNPH patients: A retrospective study.

BACKGROUND: The 10-meter walking test (10 MWT) is widely used during a cerebrospinal fluid tap test (CSFTT) for idiopathic normal-pressure hydrocephalus (iNPH). However, various previous studies and guidelines do not specify whether to adopt a comfortable walking speed or maximum walking speed when implementing the 10 MWT. In this study, we analyzed the values of comfortable and maximum walking speeds during the CSFTT in patients who underwent shunt surgery to determine which walking form is desirable for evaluation. METHODS: The patients were 29 consecutive cases in which a CSFTT was performed, followed by shunting, between October 2012 and April 2019. Data on the 10 MWT comfortable walking speed and maximum walking speed were collected, as were data on the timed up and go (TUG) test and Mini-Mental State Examination (MMSE). We analyzed the rate of change in comfortable walking speed and maximum walking speed before CSFTT and on the first day after CSFTT, and the amount of improvement compared to baseline ability. In addition, diagnostic performance was compared using a receiver operating characteristic (ROC) analysis. RESULTS: Twenty-eight patients who underwent shunt surgery improved their symptoms and were designated as shunt responders. The remaining patient who underwent surgery was considered a non-responder with no improvement in symptoms. The parameters of the shunt responders that changed were muscle strength, the 10 MWT, and the TUG test, and there was no significant change in cognitive function. The rate of change, amount of change, and sensitivity were large at a comfortable walking speed, but ROC analysis showed that the maximum walking speed had a large area under the curve and excellent specificity. The higher the preoperative gait function, the lower the improvement rate of gait function. DISCUSSION: The comfortable walking speed is easy to measure, but its specificity is inferior to the maximum walking speed. However, the maximum walking speed may be affected by the ceiling effect and measurement errors. Despite this, we concluded that the maximum walking speed had a better diagnostic performance. Because the causes of gait disturbance in iNPH include decreased muscle output, postural instability, and gait rhythm disorder, and maximum walking speed is strongly related to each of these factors, this accounts for the changes in maximum walking speed. CONCLUSION: In conclusion, although comfortable walking speed was easy to measure in terms of changes and had high sensitivity, the maximum walking speed had the highest specificity and comprehensive diagnostic performance. It is recommended that maximum walking speed be evaluated when making a definitive diagnosis of iNPH.

Characteristics of cognitive function evaluation using the Montreal cognitive assessment in a cerebrospinal fluid tap test in patients with idiopathic normal pressure hydrocephalus.

OBJECTIVES: Though the Japanese version of the Montreal Cognitive Assessment (MoCA-J) scores change after a cerebrospinal fluid tap test (CSFTT), their characteristics remain unclear. To compare patient response rate to changes in cognitive function observed in the cerebrospinal fluid tap test, and to determine which group of patients were good responders. PATIENTS AND METHODS: This study included 32 patients who were suspected of having idiopathic normal pressure hydrocephalus (iNPH) between May 2017 and October 2018. Cases were divided into, following a CSFTT, a gait responder group and a non-responder group. Scores of the MoCA-J were compared and examined before, one day after, and one week after the CSFTT. RESULTS: Significant changes in MoCA-J scores were observed 1 day and 1 week after the CSFTT in the gait responder group. The change in scores was larger, and had a larger effect size, one week after the CSFTT. On assessment, MoCA-J sub-items began to show changes in attention and abstract items one day after the CSFTT, and significant changes were noted in attention and abstract items in addition to executive functions and orientation one week after the CSFTT. The degree of cognitive function before the CSFTT was less closely related to the amount of change. Changes in cognitive function can be assessed at each time point after the CSFTT, and changes in cognitive function are measured regardless of the level of cognitive function. CONCLUSION: These results suggest that evaluating patients with the MoCA-J may potentially support a more accurate iNPH diagnosis.

Changes in Cognitive Function Scores After Cerebrospinal Fluid Tap Testing in Patients with Suspected Idiopathic Normal-Pressure Hydrocephalus.

BACKGROUND: In patients suspected of having idiopathic normal-pressure hydrocephalus (iNPH), improvement in impaired cognition is common after a diagnostic cerebrospinal fluid tap test (CSFTT). Measures used to evaluate cognitive function before and after a CSFTT include the Mini-Mental State Examination (MMSE), Frontal Assessment Battery (FAB), and Trail Making Test (TMT). However, the time point at which cognitive function should be reevaluated after a CSFTT remains controversial. OBJECTIVE: To investigate differences in cognitive function 1 day and 1 week after a CSFTT (versus baseline) in patients with suspected iNPH. METHODS: This retrospective study, conducted between October 2012 and January 2017, involved 39 patients with suspected iNPH. We analyzed their MMSE, FAB, and TMT scores on tests conducted before and 1 day and 1 week after the CSFTT. RESULTS: Changes in MMSE scores were negligible 1 day after the CSFTT but began to appear 1 week later. Changes in FAB scores were observed from 1 day to 1 week after the CSFTT. Although no statistically significant differences in TMT scores were observed at either time point, the execution time for the test tended to be shorter on the day after the CSFTT. Changes in cognitive function were not associated with demographic or morphological parameters. More severe impairments at baseline, however, were associated with greater changes in cognitive function. CONCLUSIONS: Performing several reevaluations using each test may enable more accurate assessment of cognitive function in patients with suspected iNPH. Our results highlight the need for long-term follow-up, regardless of the severity of cognitive impairment.

Investigation and clinical applications of muscle strength change in cerebrospinal fluid tap test in cases of idiopathic normal pressure hydrocephalus: A retrospective study.

The cerebrospinal fluid tap test (CSFTT) is widely used to diagnose idiopathic normal pressure hydrocephalus (iNPH) and predict the therapeutic effectiveness of shunting. However, the ability to walk cannot be quantified for patients who are unable to walk. Therefore, we examined whether the iNPH diagnostic aid is possible using dynamometry, even for patients who are unable to walk. In this study, 45 patients underwent grip strength assessment, quadriceps strength assessment, 10-m walk test, and 3-m Timed Up and Go test before and after CSFTT. Our investigation of physical functions indicated that the CSFTT-positive group demonstrated significant improvements in grip and bilateral quadriceps muscle strength. The results of the receiver operating characteristic analysis indicated that leg muscle strength measurement reliability was high and that the area under the curve was 0.754-0.811. Our investigation of the clinically effective cutoff point for the rate of change indicated that it was 13.6% for right quadriceps muscle strength and 15.3% for left quadriceps muscle strength. Comparing CSFTT results in cases of iNPH with the observed rate of change in muscle strength can aid in the diagnosis of iNPH.

A Case of Mild Encephalopathy with a Reversible Splenial Lesion Associated with G5P[6]Rotavirus Infection.

We report a case of mild encephalopathy with a reversible splenial lesion (MERS) associated with acute gastroenteritis caused by rotavirus (RV) infection. The patient (male, 4 years and 3 months old) was admitted to our hospital for diarrhea and afebrile seizures. Head MRI revealed a hyperintense signal in the splenium of the corpus callosum on DWI and a hypointense signal on the ADC-map. After awakening from sedation, the patient's disturbance of consciousness improved. On day 5 after admission of the illness, the patient was discharged from the hospital in a good condition. Electroencephalography on day 2 after admission was normal. On day 8 of admission, head MRI revealed that the splenial lesion had disappeared. RV antigen-positive stools suggested that RV had caused MERS. This RV genotype was considered to be G5P[6]; it may have spread to humans as a strain reassortment through substitution of porcine RV into human RV gene segments. This extremely rare genotype was detected first in Japan and is not covered by existing vaccines; this is the first sample isolated from encephalopathy patients. Few reports have investigated RV genotypes in encephalopathy; we believe that this case is valuable for studying the relationship between genotypes and clinical symptoms.

Whole genomic analysis of a porcine-like human G5P[6] rotavirus strain isolated from a child with diarrhoea and encephalopathy in Japan.

An unusual rotavirus strain, Ryukyu-1120, with G5P[6] genotypes (RVA/Human-wt/JPN/Ryukyu-1120/2011/G5P[6]) was identified in a stool specimen from a hospitalized child aged 4 years who showed diarrhoea and encephalopathy. In this study, we sequenced and characterized the complete genome of strain Ryukyu-1120. On whole genomic analysis, this strain was found to have a unique genotype constellation: G5-P[6]-I5-R1-C1-M1-A8-N1-T1-E1-H1. The VP6 and NSP1 genotypes I5 and A8 are those commonly found in porcine strains. Furthermore, phylogenetic analysis indicated that each of the 11 genes of strain Ryukyu-1120 appeared to be of porcine origin. Thus, strain Ryukyu-1120 was found to have a porcine rotavirus genetic backbone and is likely to be of porcine origin. To our knowledge, this is the first report of whole-genome-based characterization of the emerging G5P[6] strains in Asian countries. Our observations will provide important insights into the origin of G5P[6] strains and the dynamic interactions between human and porcine rotavirus strains.