Neurological manifestations of SARS-CoV-2 infection in children in Taiwan: A cross-section, multicenter study.

BACKGROUND: The SARS-CoV-2 virus has been a global public health threat since December 2019. This study aims to investigate the neurological characteristics and risk factors of coronavirus disease 2019 (COVID-19) in Taiwanese children, using data from a collaborative registry. METHODS: A retrospective, cross-sectional, multi-center study was done using an online network of pediatric neurological COVID-19 cohort collaborative registry. RESULTS: A total of 11160 COVID-19-associated emergency department (ED) visits and 1079 hospitalizations were analyzed. Seizures were the most common specific neurological symptom, while encephalitis and acute disseminated encephalomyelitis (ADEM) was the most prevalent severe involvement. In ED patients with neurological manifestations, severe neurological diagnosis was associated with visual hallucination, seizure with/without fever, behavior change, decreased GCS, myoclonic jerk, decreased activity/fatigue, and lethargy. In hospitalized patients with neurological manifestations, severe neurological diagnosis was associated with behavior change, visual hallucination, decreased GCS, seizure with/without fever, myoclonic jerk, fatigue, and hypoglycemia at admission. Encephalitis/ADEM was the only risk factor for poor neurological outcomes at discharge in hospitalized patients. CONCLUSION: Neurological complications are common in pediatric COVID-19. Visual hallucination, seizure, behavior change, myoclonic jerk, decreased GCS, and hypoglycemia at admission are the most important warning signs of severe neurological involvement such as encephalitis/ADEM.

Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics.

Zellweger spectrum disorders (ZSD) are rare autosomal recessive disorders caused by defects in peroxisome biogenesis factor (PEX; peroxin) genes leading to impaired transport of peroxisomal proteins with peroxisomal targeting signals (PTS). Four patients, including a pair of homozygotic twins, diagnosed as ZSD by genetic study with different clinical presentations and outcomes as well as various novel mutations are described here. A total of 3 novel mutations, including a nonsense, a frameshift, and a splicing mutation, in PEX1 from ZSD patients were identified and unequivocally confirmed that the p.Ile989Thr mutant PEX1 exhibited temperature-sensitive characteristics and is associated with milder ZSD. The nature of the p.Ile989Thr mutant exhibited different characteristics from that of the other previously identified temperature-sensitive p.Gly843Asp PEX1 mutant. Transcriptome profiles under nonpermissive vs. permissive conditions were explored to facilitate the understanding of p.Ile989Thr mutant PEX1. Further investigation of molecular mechanisms may help to clarify potential genetic causes that could modify the clinical presentation of ZSD.

Vagus nerve stimulation for patients with refractory epilepsy: Demographic features and neuropsychological outcomes of the VNS Taiwan child neurology society database.

OBJECTIVES: Vagus nerve stimulation (VNS) is an established adjunctive therapy for medically refractory epilepsy, which is commonly associated with cognitive impairment, especially in children in whom seizures may disrupt development that is essential to their intellectual and social maturation. The Taiwan Child Neurology Society intends to expand the use of VNS by reporting the experience in a nationwide population, displaying the demographic features and neuropsychological outcomes of VNS. METHODS: The enrollment included 105 patients of all ages and seizure types who underwent VNS implantation for refractory epilepsy. Basic data included etiology, past history, seizure phenotypes, and epileptiform syndromes. For efficacy analysis, seizure frequencies were recorded at the baseline and at 3, 12, 24, and 36 months after VNS implantation. For psychological assessment, intelligence quotients (IQ) and Parental Stress Index (PSI) scores were evaluated before and after the VNS. RESULTS: During the study period, 95 patients with VNS had followed seizure frequency, IQ and PSI recording. After implantation, there was a decreased frequency at 3 (P < .001), 12 (P < .001), 24 (P = .010), and 36 (P < .01) months. After implantation, the reduction rate (0-50%) of seizure frequency ranged around 26.1-36.1% from 3 to 36 months. For PSI scores, the VNS significantly improved the PSI- total score (P = .001) and PSI-parent domain (P = .001) but not the PSI-children domain (P = .052). No significant improvement in the IQ test performance was observed. CONCLUSIONS: This prospective nationwide database of VNS in Taiwan indicates long-term efficacy of VNS therapy, which has achieved a trend of seizure frequency reduction over a period of up to 36 months. It also shows the trend of decreased parental stress after VNS implantation.

Prevalence of preschool children developmental disabilities in northeastern Taiwan - Screening with Taipei City Developmental Screening Checklist for Preschoolers, 2nd Version.

BACKGROUND/PURPOSE: The prevalence of developmental disabilities in Taiwan remains unclear, especially in young children under the age 3. We aimed to study the prevalence of developmental disabilities and verify a useful developmental screening tool in a community setting in Taiwan. METHODS: We conducted a prospective cross-sectional study in northeastern Taiwan from July 2008 to December 2009 in children aged 4 months to 6 years old from well-child visits. We devised a screening program using Taipei City Developmental Screening Checklist for Preschoolers, 2nd Version (Taipei-II), a validated parent-report milestone checklist tailored to the Taiwanese culture and language to assess the prevalence of developmental disabilities in Taiwan. Information about the children's medical conditions and their family were recorded. RESULTS: A total of 3214 children were recruited, of whom 365 had developmental disabilities, with an overall prevalence of 11.36%. Speech and language delay/disorders were the most common developmental problems followed by motor delays, with prevalence rates of 4.79% and 2.33%, respectively. Low economic status, prematurity and/or small for gestational age and a history of perinatal hypoxia or underlying medical disorders were the main risk factors correlated with developmental delays. However, foreign-born mother and aboriginal families were not important factors for poor developmental outcomes. CONCLUSION: The prevalence rate of developmental disabilities in northeastern Taiwan was 11.36%. Low economic status, prematurity and/or small for gestational age and a history of underlying medical disorders were the main risk factors correlated with developmental disabilities. Taipei II is an easy-to-use and effective developmental surveillance tool for Taiwanese children.

Normal Development of the Corpus Callosum and Evolution of Corpus Callosum Sexual Dimorphism in Infancy.

OBJECTIVES: The aim of this study was to establish reference ranges for the corpus callosum in infancy and to clarify how sexual dimorphism evolves between the fetal stage and infancy. METHODS: Normal sonograms from cerebral ultrasonographic examinations of 1- to 6-month-old healthy full-term infants were selected. The length and thickness of the corpus callosum were determined, and the effect of sex on these values was analyzed. Studies on corpus callosum sexual dimorphism were reviewed. RESULTS: In total, sonograms from 236 1- to 6-month-old infants (120 male and 116 female) were collected, and the typical values (5th-95th percentiles) of the corpus callosum were determined for each group. During the first 2 months, with and without brain size adjustment, the corpus callosum in female infants was significantly thicker than that in male infants (mean thickness ± SD: 1 month, male infant, 1.8 ± 0.3 mm; female infant, 2.1 ± 0.3 mm; P = .005; 2 months, male infant, 1.8 ± 0.2 mm; female infant, 2.0 ± 0.3 mm; P = .002). The corpus callosum thickness of male and female infants had no significant differences after 2 months of age. Sexual dimorphism was not detected in corpus callosum length. CONCLUSIONS: Our study provides reference data on typical corpus callosum development in infants. In the fetal period and early infancy, the corpus callosum in female infants is thicker than that in male infants. From 3 months onward, the corpus callosum sexual dimorphism becomes insignificant throughout childhood. The evolvement of corpus callosum sexual dimorphism suggests that maternal factors may influence brain development.

The neuropsychological outcome of pediatric patients with refractory epilepsy treated with VNS--A 24-month follow-up in Taiwan.

OBJECTIVES: Multiple studies have reported the benefits of vagus nerve stimulation (VNS) on neuropsychological outcomes. The aim of this study was to investigate how VNS affects cognition and psychosocial adjustment in children with refractory epilepsy (RE), and to determine the efficacy of VNS in a Taiwanese population. METHODS: We conducted a one-group pretest-posttest study on pediatric patients with RE. The study comprised 19 males and 18 females, all aged <18 years. We recorded seizure frequency at 3, 12, and 24 months after VNS device implantation. Intelligence quotients (IQ) were assessed using the Wechsler Intelligence Scale for Children - IV. The Parental Stress Index (PSI) scores were evaluated by a pediatric psychologist. RESULTS: Vagus nerve stimulation device implantation significantly reduced seizure frequency at 3, 12 and 24 months, especially in young children (<12 years). No significant improvement in IQ test performance was observed, though there were significant improvements in the PSI, especially in young children. CONCLUSIONS: Vagus nerve stimulation device implantation does not significantly improve cognition function, but it does significantly reduce seizure frequency and stress in parent-child relationships, especially in young children (<12 years). These findings suggest that VNS should be considered as an alternative therapy for patients proven to have seizures that are medically refractory, especially those younger than 12 years of age.

Long-term neurocognitive outcome and auditory event-related potentials after complex febrile seizures in children.

OBJECTIVES: Whether prolonged or complex febrile seizures (FS) produce long-term injury to the hippocampus is a critical question concerning the neurocognitive outcome of these seizures. Long-term event-related evoked potential (ERP) recording from the scalp is a noninvasive technique reflecting the sensory and cognitive processes associated with attention tasks. This study aimed to investigate the long-term outcome of neurocognitive and attention functions and evaluated auditory event-related potentials in children who have experienced complex FS in comparison with other types of FS. METHODS: One hundred and forty-seven children aged more than 6 years who had experienced complex FS, simple single FS, simple recurrent FS, or afebrile seizures (AFS) after FS and age-matched healthy controls were enrolled. Patients were evaluated with Wechsler Intelligence Scale for Children (WISC; Chinese WISC-IV) scores, behavior test scores (Chinese version of Conners' continuous performance test, CPT II V.5), and behavior rating scales. Auditory ERPs were recorded in each patient. RESULTS: Patients who had experienced complex FS exhibited significantly lower full-scale intelligence quotient (FSIQ), perceptual reasoning index, and working memory index scores than did the control group but did not show significant differences in CPT scores, behavior rating scales, or ERP latencies and amplitude compared with the other groups with FS. We found a significant decrease in the FSIQ and four indices of the WISC-IV, higher behavior rating scales, a trend of increased CPT II scores, and significantly delayed P300 latency and reduced P300 amplitude in the patients with AFS after FS. CONCLUSION: We conclude that there is an effect on cognitive function in children who have experienced complex FS and patients who developed AFS after FS. The results indicated that the WISC-IV is more sensitive in detecting cognitive abnormality than ERP. Cognition impairment, including perceptual reasoning and working memory defects, was identified in patients with prolonged, multiple, or focal FS. These results may have implications for the pathogenesis of complex FS. Further comprehensive psychological evaluation and educational programs are suggested.

Genetic Diagnosis in Children with Developmental Delay.

Developmental delay (DD) has a great impact on children at the developmental stage, and is often manifested by varying degrees of motor delays, intellectual disabilities, and other defects [...].

Age-changed normative auditory event-related potential value in children in Taiwan.

BACKGROUND/PURPOSE: Event-related potentials (ERPs) reflect higher cortical function and the P3 (P300) wave has been associated with various sensory, cognitive, and attention processes. The aims of this study were to understand the age-related change in ERPs in children between the ages of 6 and 13 years and to establish a normal reference value for Taiwanese children for use in future study of neurocognitive dysfunction in children. METHODS: Using an auditory oddball paradigm, ERPs were recorded in 63 mentally and physically normal children ages 6 to 13 years. Parietal, central, and frontal ERP long-latency components (N1, P2, N2, P3) were measured in each test participant. RESULTS: Linear regression analysis demonstrated a significant linear decrease in P3, P2, N2, and N1 latencies and a significant linear increase in P3, P2, and N1 amplitudes in children between the ages of 6 and 13 years. P3 latency was significantly longer in children ages 6-7 years than in older children. The parietal P3 latency decreases 6.7 msec per year from ages 6 to 13 years. A wide variation in P3 latency in the children ages 6-7 years and a significant increase in P3 amplitude in those ages 12-13 years were observed from our data. A significant increase in P2 amplitude was also observed in children older than 10 years. CONCLUSION: The authors conclude that there exists an age-related change in ERP latency and amplitude during childhood. A negative correlation between ERP latencies and age and a positive correlation between ERP amplitude and age were found in this study. The authors emphasize that the auditory ERP value in children is not equal to that of adults. A normative auditory ERP value in children should be established prior to clinical application.

Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy.

Tubulin proteins play a role in the cortical development. Mutations in the tubulin genes affect patients with brain malformations. The present report describes two cases of developmental and epileptic encephalopathy (DEE) due to tubulinopathy. Case 1, a 23-year-old boy, was found to have a brain malformation with moderate ventriculomegaly prenatally. Hypotonia was noted at birth. Seizures were noted on the 1st day with multifocal discharges on the EEGs, which became intractable to many anticonvulsants. Brain MRI showed marked dilated ventricles and pachy/polymicrogyri. He became a victim of DEE. A de novo mutation in TUBB2B was proven through next-generation sequencing (NGS). Case 2, a mature male baby, began to have myoclonic jerks of his limbs 4 h after birth. EEG showed focal sharp waves from central and temporal regions. Brain MRI showed lissencephaly, type I. The seizures were refractory initially. A de novo mutation in TUBA1A was proven at the 6th week through NGS. He showed the picture of DEE at 1 year and 2 months of age. The clinical features of the tubulinopathies include motor delay, intellectual disabilities, epilepsy, and other deficits. Our cases demonstrated the severe form of tubulinopathy due to major tubulin gene mutations. NGS makes the early identification of genetic etiology possible for clinical evaluation.

Lenticulostriate Vasculopathy in Very-Low-Birth-Weight Preterm Infants: A Longitudinal Cohort Study.

BACKGROUND: The pathogenesis and clinical significance of lenticulostriate vasculopathy (LSV) are unclear. Our study aimed to determine the prevalence, presentation, and evolution of LSV, and the perinatal risk factors associated with LSV among very-low-birth-weight (VLBW) preterm infants. METHODS: One-hundred-and-thirty VLBW preterm infants were retrospectively enrolled in this study. Serial cranial ultrasound examinations were performed regularly from birth until a corrected age of 1 year. Infants with LSV were assigned to early-onset (≤10 postnatal days) and late-onset (>10 postnatal days) groups. Data describing the infants' perinatal characteristics, placental histopathology, and neonatal morbidities were collected, and the groups were compared. RESULTS: Of the VLBW infants, 39.2% had LSV before they were 1 year old. Linear-type LSV was the most common presentation, and >50% of the infants had bilateral involvement. LSV was first detected at 112 ± 83 postnatal days, and its detection timing correlated negatively with gestational age (GA) (R2 = 0.153, p = 0.005) and persisted for 6 months on average. The infants with and without LSV had similar perinatal characteristics, placental pathologies, cytomegalovirus infection rates, and clinical morbidities. The late-onset LSV group comprised 45 (88.2%) infants who had a significantly higher rate of being small for gestational age (SGA) and used oxygen for longer than the infants without LSV. After adjusting a multivariable regression model for GA and SGA, analysis showed that the duration of oxygen usage was an independent risk factor for late-onset LSV development in VLBW infants (odds ratio: 1.030, p = 0.032). CONCLUSION: LSV may be a nonspecific marker of perinatal insult to the developing brains of preterm infants. Prolonged postnatal oxygen usage may predispose VLBW preterm infants to late-onset LSV development. The long-term clinical impacts of LSV should be clarified.

Influence of gastric morphology on gastroesophageal reflux in adults: An observational study.

ABSTRACT: The study's aim was to determine if there was an association between gastric morphology and gastroesophageal reflux (GER). Few published studies have investigated the relationship between gastric morphology and the risk of GER.A total of 777 patients were randomly selected from 3000 to 3300 patients who presented at a medical center in Taipei for annual health checkups from early 2008 through to late 2010 and underwent a series of radiographs of the upper gastrointestinal tract (UGI). GER was recorded during the real-time fluoroscopic study. Thirty-nine participants had a follow-up endoscopy, and another 164 participants were followed up by a second UGI series 12 +/ -1.5 months later, from late 2008 through to early 2022. All participants completed a lifestyle and symptom questionnaire. The variables included current smoking and alcohol consumption. Participants who had heartburn and dysphagia were included in the study. Additionally, all participants underwent a limited physical examination which recorded age, sex, body mass index, and total cholesterol and triglyceride levels.All participants were classified into types 1 to 6 based on the gastric morphology determined from the first UGI. Cascade stomach is recognized by characteristic findings on UGI. Gastric types 2 and 3 tend to appear as cascade stomachs and were significantly associated with GER (P < .05) compared with the other groups. Morphologic type 5 appeared as an elongated sac extending downward into the pelvic cavity and was less likely to develop GER (P < .001). The results of follow-up studies by UGI and endoscopy were similar to those of the first UGI. Gastric morphologic type 2 was significantly associated, and type 5 was usually not associated, with GER and erosive esophagitis (P < .05) compared with the other groups, by both UGI and endoscopy.Gastric morphologic types 2 and 3, with cascade stomach, might provide a relatively easy method for the development of the GER phenomenon. Gastric morphologic type 5 appeared as an elongated sac that might reduce the incidence of the GER phenomenon. The study suggested that gastric morphologic type could influence the occurrence of GER.

Vagus nerve stimulation in pediatric patients with failed epilepsy surgery.

Adequate control of pharmacoresistant epilepsy continues to be a challenge. Multiple studies have reported the benefits of epilepsy surgery and vagus nerve stimulation for children with pharmacoresistant epilepsy. Little is known about the role of vagus nerve stimulation for children with failed epilepsy surgeries. The aim of this study was to examine the effects of vagus nerve stimulation on seizure frequency reduction for children with failed epilepsy surgeries. We retrospectively reviewed 85 children with pharmacoresistant epilepsy who underwent vagus nerve stimulation. Six of these patients underwent epilepsy surgery before vagus nerve stimulation (group I) and 79 patients received only vagus nerve stimulation (group II). We recorded seizure frequency at 3, 12, 24 and 36 months after vagus nerve stimulator implantation. Both groups had reduced seizure frequencies at the 3-, 12-, 24- and 36-month follow-up (p = 0.044 for group I trends and 0.008 for group II trends). Vagus nerve stimulator implantations significantly improve seizure frequency for children with or without previous epilepsy surgery at 3, 12, 24 and 36 months. These findings suggest that vagus nerve stimulation should be considered an alternative therapy for pediatric patients with previous failed surgeries.

Clinical spectrum and the comorbidities of Dravet syndrome in Taiwan and the possible molecular mechanisms.

Dravet syndrome (DS) is an uncommon epilepsy syndrome that may negatively affect the patients and their caregivers. However, reliable and valid measures of its impact on caregivers and the characteristics of patients with DS in Taiwan are lacking. This study aimed to describe the characteristics of patients with DS and concerns of their caregivers and establish a baseline frequency of disease characteristics using a cross-sectional survey in Taiwan. We assessed the caregivers of patients with DS using an online anonymous questionnaire. The seizure frequency decreased with age, although lacking statistical significance. Vaccines show no influence on the condition of patients with DS. Our findings revealed the highest impact on the domains affecting the caregivers' daily life, including additional household tasks, symptom observation, further medical plan, and financial issues. Caregivers also expressed concerns regarding the lack of independence/constant care, seizure control, speech/communication, and impacts on siblings because of long-term care of the patients in parents' absence. Our findings highlight the significant effects of caring for a child with DS on the lives of their caregivers in Taiwan; these findings will help raise awareness regarding the needs of these families. Furthermore, we discussed the possible pathophysiological mechanisms of associated comorbidities.

Pediatric abusive head trauma.

Abusive head trauma (AHT), used to be named shaken baby syndrome, is an injury to the skull and intracranial components of a baby or child younger than 5 years due to violent shaking and/or abrupt impact. It is a worldwide leading cause of fatal head injuries in children under 2 years. The mechanism of AHT includes shaking as well as impact, crushing or their various combinations through acceleration, deceleration and rotational force. The diagnosis of AHT should be based on the existence of multiple components including subdural hematoma, intracranial pathology, retinal hemorrhages as well as rib and other fractures consistent with the mechanism of trauma. The differential diagnosis must exclude those medical or surgical diseases that can mimic AHT such as traumatic brain injury, cerebral sinovenous thrombosis, and hypoxic-ischemic injury. As for the treatment, most of the care of AHT is supportive. Vital signs should be maintained. Intracranial pressure, if necessary, should be monitored and controlled to ensure adequate cerebral perfusion pressure. There are potential morbidity and mortality associated with AHT, ranging from mild learning disabilities to severe handicaps and death. The prognosis of patients with AHT correlates with the extent of injury identified on CT and MRI imaging. The outcome is associated with the clinical staging, the extent of increased intracranial pressure and the existence of neurological complications such as acquired hydrocephalus or microcephalus, cortical blindness, convulsive disorder, and developmental delay. AHT is a potentially preventable disease, therefore, prevention should be stressed in all encounters within the family, the society and all the healthcare providers.

Therapeutic effects of children with refractory epilepsy after vagus nerve stimulation in Taiwan.

BACKGROUND: Vagus nerve stimulation (VNS) is used as an add-on treatment for epilepsy. This study aimed to use Taiwanese nationwide registry data to analyze the therapeutic effects of VNS in children with refractory epilepsy (RE) and try to explore predictive factors of VNS treatment effectiveness. METHODS: This retrospective study collected data from December 2007 to December 2014. Patient variables included gender, age, VNS implantation date, epilepsy duration, seizure frequency, seizure type, etiology, and antiepileptic drug (AED) history. We divided patients into three groups: Group I as seizure frequency >80 times per month, Group II as seizure frequency 24-80 times per month, and Group III as seizure frequency <24 times per month. Multivariate regression analysis was performed to determine predictors of seizure frequency reduction after VNS treatment. RESULTS: A total of 80 patients were included in this study. Three or more AED types were prescribed for 61 (77.1%) patients. Seizure frequency decreased significantly at 12 and 24 months after VNS treatment. The mean seizure reduction rates were 44.6% and 50.1% at 12 and 24 months after VNS treatment, with the difference between them reaching statistical significance (p = 0.001). In multivariate linear regression, high seizure frequency (Group I) was a positive predictor of seizure frequency reduction (p < 0.001). The most common complication was coughing (eight patients, 10%) and no patient had early withdrawal or premature termination of VNS use due to complications. CONCLUSION: VNS is an effective palliative treatment for children with RE for different seizure types. Seizure reduction rate at 24 months after VNS was better than at 12 months after VNS. High seizure frequency can be regarded as a positive predictor for seizure frequency reduction in children with RE treated with VNS.

Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome.

BACKGROUND: Chromosome 22q11 deletion syndrome (22q11DS) causes a developmental disorder during the embryonic stage, usually because of hemizygous deletions. The clinical pictures of patients with 22q11DS vary because of polymorphisms: on average, approximately 93% of affected individuals have a de novo deletion of 22q11, and the rest have inherited the same deletion from a parent. Methods using multiple genetic markers are thus important for the accurate detection of these microdeletions. METHODS: We studied 12 babies suspected to carry 22q11DS and 18 age-matched healthy controls from unrelated Taiwanese families. We determined genomic variance using microarray-based comparative genomic hybridization (array-CGH), quantitative real-time polymerase chain reaction (qPCR) and multiplex ligation-dependent probe amplification (MLPA). RESULTS: Changes in genomic copy number were significantly associated with clinical manifestations for the classical criteria of 22q11DS using MPLA and qPCR (p < 0.01). An identical deletion was shown in three affected infants by MLPA. These reduced DNA dosages were also obtained partially using array-CGH and confirmed by qPCR but with some differences in deletion size. CONCLUSION: Both MLPA and qPCR could produce a clearly defined range of deleted genomic DNA, whereas there must be a deleted genome that is not distinguishable using MLPA. These data demonstrate that such multiple genetic approaches are necessary for the unambiguous molecular detection of these types of complicated genomic syndromes.

Acute flaccid myelitis associated with enterovirus D68 infection: A case report.

RATIONALE: We present the first case of enterovirus (EV) D68, lineage B3 infection, associated with acute flaccid myelitis (AFM) in Taiwan. AFM caused by EV D68 is relatively rare. This report highlights the importance of clinical recognition of the disease and discusses treatments that can benefit such patients. PATIENT CONCERNS: A 5-year-old boy experienced sudden onset of acute flaccid paralysis (AFP) involving left arm after fever and respiratory symptoms for 3 days. DIAGNOSES: Magnetic resonance imaging (MRI) of the spinal cord revealed signal changes over segments C1 to T5 on a T2-weighted image (T2WI), compatible with the diagnosis of AFM. The EV D68 strain, cultured from the throat of the patient was identified. INTERVENTIONS: We administered intravenous immunoglobulin (IVIG, 1g/kg, twice), pulse steroid therapy (methylprednisolone, 30 mg/kg, twice) and oral prednisolone (1mg/kg/day). Rehabilitation was also arranged. OUTCOMES: The patient still had mild muscle atrophy over left arm after following-up for 1 year. LESSONS: Early diagnosis and prompt management are essential for managing this kind of patient. IVIG, pulse therapy, and oral prednisolone may play crucial roles in controlling its clinical course.

Seizure remission and improvement of neurological function in sialidosis with perampanel therapy.

A 15-year-old boy experienced myoclonic seizures for 3 years. He initially had occasional myoclonus, gradually progressive ataxia, tremors, and psychomotor and speech regression developed. Eventually, he exhibited nearly continuous myoclonus. He received treatment of sodium valproate, levetiracetam, clobazam, and phenobarbital, without efficacy. A ketogenic diet also proved ineffective. Adjunctive therapy with 4 mg/day of perampanel was started and was gradually titrated to 10 mg/day. The remission of myoclonic seizures was achieved within one month. The patient's neurological and cognitive functions improved to a certain degree during the following 20 months. Sialidosis was confirmed by the mutations of NEU1 gene.