In pediatric intractable epilepsy, surgical intervention must be considered at an appropriate time for seizure suppression and its impact on development. However, referrals from pediatricians to neurosurgeons who perform epilepsy surgeries are not always smooth. In this article, we present neurosurgeons’views on the issues faced by pediatricians and discuss the ideal form of clinical collaboration between the two. Several issues have emerged as reasons for the difficulty in clinical collaboration. First, epilepsy surgery is an unknown world for many pediatricians. Second, there is difficulty in determining the appropriate timing of referral. Lastly, the lack of information about facilities performing epilepsy surgery makes it difficult to know where to refer patients. Solving these issues will lead to better collaboration between the two departments. Although the decision of performing surgical treatment is made by the neurosurgeon, it is important that the final decision on the appropriate treatment intervention be made in consultation with the pediatrician, which is essential for a true clinical collaboration. Further, some great strides have been made in epilepsy surgery over the past few decades, including improving the accuracy of diagnosing epileptic foci, accumulating data on surgical outcomes, and introducing neurostimulation therapies. It is also important to share this information properly. Thus, a compromise should be made between the two, with neurosurgeons providing information to pediatricians and pediatricians deepening their understanding of epilepsy surgeries. The most efficient way is for pediatricians to observe the postoperative progress of their patients who have been referred for neurosurgery, which can be a major factor in deciding referral for the next patient.

  Objective: Seizure type diagnosis is important in epilepsy treatment, and long-term video electroencephalography (VEEG) is performed for diagnosis. However, no reports have examined the direct correspondence between patient/caregiver symptom expressions and seizure types. This study aimed to analyze the relationship between patient/caregiver symptom expressions and seizure types and investigate the possibility of identifying seizure types based on these expressions. Methods: This study included patients who underwent VEEG at our hospital between April 2015 and March 2022. We specifically included patients whose seizure symptoms were captured corresponding to the expressions of the patient/caregiver and whose seizure types were identified. Data on expressions were obtained from medical records and by using a record table during VEEG. The relationship between the expressions and seizure types was visualized using the text mining software KH Coder3, and logistic regression analysis was applied to examine their association. Results: A total of 151 cases were included in this study. The logistic regression analysis suggested a strong relationship between the expressions and seizure types in epileptic spasms, tonic seizures, focal impaired awareness seizures, and behavior arrest seizures. Conclusion: Although several patient/caregiver seizure symptom expressions were noted, some were strongly related to the seizure type. Consequently, verifying these expressions holds potential for aiding in the diagnosis of the seizure type.

  Aberrations in the COL4A1 gene lead to the faulty secretion of type IV collagen, resulting in damage to vascular basement membrane and various symptoms affecting multiple organs. Epilepsy associated with COL4A1-related disorder is often challenging to treat. We report a 5-year-old boy with developmental delay, congenital ocular abnormalities diagnosed with Peters anomaly, and abnormal neuroimaging findings. The patient had epileptic spasms starting at the age of 10 months and was diagnosed with West syndrome. Initial treatment, including adrenocorticotropic hormone (ACTH), was only transiently effective. At 1 year 9 months of age, vigabatrin (VGB) administration was introduced cautiously considering its potential adverse effects that might worsen ocular lesions. His seizures were suppressed with a modest dose (100 mg/kg/day) of VGB with no signs of electroretinogram abnormalities on repeated ophthalmological examinations. VGB was discontinued successfully at 3 years 6 months of age with no recurrence of seizures. A de novo pathogenic variant NM_001845.6:c.3620G>A (p.G1207E) was found in COL4A1. These findings suggest that VGB may be used effectively and safely in treating refractory West syndrome, even in patients with congenital ocular abnormalities associated with COL4A1-related disorder.

  Aicardi-Goutières syndrome (AGS) is encephalopathy characterized by intracranial calcification and cerebrospinal fluid lymphocytosis. The pathogenesis of AGS is considered to be an overproduction of type I interferon (IFN). Recently, AGS has been classified as an autoinflammatory disease and named as interferonopathy. IFN signature, which represents the expression level of some IFN-stimulated genes, has attracted attention as a biomarker for diagnosis and disease status. To date, nine genes responsible for the metabolism and sensing of nucleic acids in AGS have been identified. The disease spectrum has been expanded to include late-onset and milder cases in contrast to early infantile-onset classic cases. Here, we report a case of a girl with late-onset AGS, who developed normally until 11 months of age, but onset symptoms triggered by the fever, and thereafter gradually developed spastic quadriplegia over several years. Whole-exome sequencing revealed a heterozygous variant with a dominant negative effect on ADAR (NM_001111.5:c.3019G>A:p.G1007R). Although brain CT was normal at the time of onset, calcification gradually became apparent in the globus pallidus and other areas. MRI showed only signal changes reflecting calcification. The cognitive functions did not regress in contrast to the motor functions. Moreover, she had mixed hypopigmented and hyperpigmented macules on the dorsal side of the fingers, which indicated the co-occurrence of dyschromatosis symmetrica hereditaria caused by a heterozygous variant of ADAR. AGS caused by ADAR is relatively more common in late-onset forms in many cases, including those showing bilateral striatal necrosis and those with spastic paraplegia with normal cognitive functions. The efficacy of Janus kinase inhibitors targeting the signaling pathway of type I IFN has also been reported. Thus, we must keep in mind that AGS shows a various phenotypes for its occurrence.

  Gaucher disease is an inborn error of metabolism that causes hematological abnormalities such as thrombocytopenia, hepatosplenomegaly, and bone symptoms due to decreased activity of glucocerebrosidase (GBA). We reported a case of Gaucher disease, who was diagnosed after the onset of symptoms suggesting PME, in the course bone symptoms from infancy. In the present case, the patients was a 16-year-old male. He was diagnosed with Perthes’disease due to recurring bilateral hip pain in infancy, and valproate was started for epilepsy due to generalized tonic-clonic seizures at the age of 10 years. Myoclonic seizures began at around 12 years of age and his school performance declined. After perampanel were added, generalized tonic-clonic seizures disappeared, but myoclonic seizures were not controlled. Therefore, he was referred to our hospital at the age of 14. The initial examination revealed no ocular motility disorder and no cerebellar ataxia symptoms, but myoclonus of the right upper limb was observed on a daily basis. At the age of 15, onset of cerebellar ataxia symptoms led to diagnosis of PME. GBA activity in lymphocytes was low, and analysis of the GBA gene revealed compound heterozygous mutations of NM_000157.4 (GBA1) :c.680A>G (p.N227S) and NM_000157.4 (GBA1) :c.94C>T (p.Q32*), leading to the diagnosis of Gaucher’s disease. In patients showing neurological symptoms such as epileptic seizures and poor learning performance after recurring bone symptoms, Gaucher disease should be suspected even when there are few characteristic hematological findings such as thrombocytopenia, and detailed investigations should be performed.

  Hyperventilation-induced high-amplitude rhythmic slowing with altered awareness (HIHARSAA) is an age-dependent nonepileptic physiological phenomenon induced by hyperventilation, in which rhythmic high-amplitude slow-wave activity appears on electroencephalogram (EEG) and transiently alters the consciousness. Here, we report the case of a 4-year-old girl who was diagnosed with HIHARSAA by EEG video recording. She showed transient loss of consciousness during hyperventilation followed by crying and was subsequently admitted to our hospital for detailed examination. She was alert and had no neurological abnormalities. Head MRI and MRA showed no significant abnormal findings such as stenosis of the main cerebral arteries. Electroencephalography showed no abnormalities during the interictal period. During hyperventilation, a sudden occurrence of rhythmic high-amplitude 3-3.5 Hz slow-wave activity was observed on EEG, and she became dazed, started to mumble, moved her hands, and began to fidget, consistent with the appearance of EEG abnormalities. Although it was difficult to differentiate the seizures from typical absence seizures, the patient was diagnosed with HIHARSAA because the ictal EEG was a rhythmic high-amplitude slow wave without spikes. Hence, she was followed up without medication. Although HIHARSAA is a rare phenomenon, it should be differentiated from typical absence seizure by means of EEG video recording.

  We report a case in which rizatriptan oral disintegrating tablet was effective in the prodromal phase. In this case, rizatriptan was superior in efficacy and tolerability compared with sumatriptan. Cyclic vomiting syndrome is associated with migraine, however, the etiology and pathogenesis remain unknown. Supportive therapy is common during the attack phase. In some cases, sumatriptan nasal spray/subcutaneous injection during the attack phase was effective. We discuss the possibility that rizatriptan can be a therapeutic option for severe cyclic vomiting syndrome.

  Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is one of the most frequent acute encephalopathies in Japanese children, and presents with abnormal speech and behavior, impaired consciousness, and convulsions. Most cases of MERS recover without neurological sequelae. We experienced a 2-year-old boy who was diagnosed with MERS following urinary retention, and recovered without neurological sequelae spontaneously. The combination of MERS and acute urinary retention is rare. The pathological condition was considered based on the physiological test results.

  Molybdenum cofactor deficiency (MoCoD) is caused by neurotoxic substrate accumulation in the brain due to the loss of activation of molybdenum cofactor-dependent enzymes and its symptoms and neuroimaging findings are similar to those of hypoxic-ischemic encephalopathy. The recognition of specific findings in MoCoD, such as no history of hypoxia in the perinatal period, time required for symptoms to stabilize, persistent hypouricemia, positive urinary sulfite, and relatively preserved thalamus and cerebellar atrophy on brain MRI, may facilitate an early diagnosis and treatment. We describe characteristic findings through our experience of siblings with MoCoD.

  Here we report the first Japanese case of microlissencephaly caused by a novel compound heterozygous variant in the WDR81 gene (NM_001163809.2:c.3929T>A [p.Val1310Asp] and NM_001163809.2:c.4861T>C [p.Trp1621Arg]). Microlissencephaly cases caused by WDR81 variants were first reported in 2017 ; however, it has not been reported in Japan, and its frequency remains unclear. WDR81 variants should be considered in the differential diagnosis of cases of severe microcephaly in which neurological development is extremely impaired without any other congenital anomalies or growth failure. Since the WDR81 variant involves autosomal recessive inheritance and there is a possibility of recurrence in the next child, appropriate and prompt genetic testing and counseling are required.