Remitted epilepsy with dysembryoplastic neuroepithelial tumor involving the thalamus.

Dysembryoplastic neuroepithelial tumors (DNT) are benign hamartomatous tumors characterized by intractable epilepsy and common localization in the supratentorial cortex, but thalamic involvement in DNT is extremely rare. A 2-year 4-month-old boy presented with intractable epilepsy due to a tumorous lesion in the frontal lobe expanding to the thalamus. Under chronic intracranial electrocorticography guidance, partial lesionectomy with adjacent cortical resection was performed, and the lesion was pathologically diagnosed as DNT, complex form. Subsequently, the seizures completely disappeared without any neurological deficits despite the presence of full residual thalamic lesions. The epileptogenicity of DNT is closely associated with various clinicopathological factors, and the thalamic contribution to the seizure activity remains unclear. Due to the essential epileptogenic characteristics of DNT, the residual thalamic lesions and associated clinical features should be strictly observed in the future in the present case.

[Electroencephalographic characteristics in patients with febrile status epilepticus].

OBJECTIVE: This study was undertaken to investigate the electroencephalographic (EEG) characteristics in patients with febrile status epilepticus. METHODS: Medical records and EEG findings were retrospectively examined in 14 patients with febrile status epilepticus, who were transferred to the Shiga University Hospital between November, 2009 and March, 2012. RESULTS: Mean time to the initial EEG examination from the cessation of febrile status epilepticus was 3.4 hours. δ waves were seen in 9 of 11 patients during awake or forced awake state, and these slow waves disappeared on or after the 2nd day. Slow waves were predominantly detected in the occipital and frontal leads in 4 and 2 patients, respectively, while diffuse slowing was seen in 4 patients. Spindle/hump waves were observed in 10 of 11 patients, but not detected in the 3 patients because only awake recordings were available. CONCLUSIONS: EEGs in the postictal state of febrile status epilepticus show slow waves, but improve early, then normal EEG sleep pattern such spindle/hump waves are commonly recognized thereafter.

[A case of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode/Leigh overlap syndrome].

We experienced a case in which mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) was identified as complications following the onset of Leigh syndrome along with a 10191 T>C mutation of the mitochondrial gene. The case pertains to a 26-year-old woman. The disease appeared when she was 11 years old due to divergent strabismus, at which point a diagnosis of juvenile Leigh syndrome was made. Many infraction images not conforming to the vessel region were observed upon a brain MRI which was performed at 26 years of age, thus leading to her being diagnosed with MELAS as a complication. Upoon bibliographical consideration, it was speculated that the clinical features of MELAS/Leigh overlap syndrome clearly differ from Leigh syndrome in terms of age of onset, symptoms, and prognosis. Pleiotropic genetic factors including heteroplasmy were presumed to be involved in the diverse phenotype of overlap syndrome.

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is a recently established subtype of neurodegeneration with brain iron accumulation (NBIA). By exome sequencing, we found de novo heterozygous mutations in WDR45 at Xp11.23 in two individuals with SENDA, and three additional WDR45 mutations were identified in three other subjects by Sanger sequencing. Using lymphoblastoid cell lines (LCLs) derived from the subjects, aberrant splicing was confirmed in two, and protein expression was observed to be severely impaired in all five. WDR45 encodes WD-repeat domain 45 (WDR45). WDR45 (also known as WIPI4) is one of the four mammalian homologs of yeast Atg18, which has an important role in autophagy. Lower autophagic activity and accumulation of aberrant early autophagic structures were demonstrated in the LCLs of the affected subjects. These findings provide direct evidence that an autophagy defect is indeed associated with a neurodegenerative disorder in humans.

A pediatric case of reversible cerebral vasoconstriction syndrome with cortical subarachnoid hemorrhage.

Reversible cerebral vasoconstriction syndrome (RCVS) is a rare disorder characterized by acute onset, severe headache, with reversible vasoconstriction of cerebral arteries often accompanied by additional neurological symptoms. This syndrome is seen mainly in middle-aged adults, predominantly women. Herein, we report on a pediatric case of RCVS with cortical subarachnoid hemorrhage (SAH). A 12-year-old boy developed acute, severe headache with paralysis of lower extremities causing gait disturbance after administration of eletriptan. Brain magnetic resonance angiography (MRA) revealed multifocal narrowing of the cerebral arteries, whereas magnetic resonance imaging (MRI) demonstrated sulcal hyperintensity on fluid-attenuated inversion recovery, consistent with cortical SAH. The patient's clinical symptoms resolved spontaneously after a few days and the MRI and MRA findings disappeared 3 months later, suggesting a diagnosis of RCVS. Eletriptan might cause vasoconstriction of cerebral arteries. Although most patients with RCVS are adults and pediatric cases are rare, RCVS should be considered in a child complaining of severe headache.