Continuous ictal discharges with high frequency oscillations confined to the non-sclerotic hippocampus in an epileptic patient with radiation-induced cavernoma in the lateral temporal lobe

Intraoperative electrocorticography recording is recommended for treating cavernoma-related epilepsy. However, interictal paroxysmal epileptiform activity is generally able to be recorded, but is not always identical to the epileptogenic zone.We surgically treated a 15-year-old girl with drug-resistant epilepsy associated with radiation-induced cavernoma in the right lateral temporal lobe. Electrocorticography revealed paroxysmal activities in the cortex around the cavernoma. Additionally, continuous subclinical “ictal” discharges with high-frequency oscillations confined to the histologically non-sclerotic hippocampus were recorded. Following additional hippocampectomy, a good seizure outcome was obtained.Intraoperative electrocorticography and high-frequency oscillation analysis revealed high epileptogenicity in the non-sclerotic hippocampus of this patient. Keywords: Cavernous malformation, Intraoperative electrocorticography, Hippocampal sclerosis, High-frequency oscillation

Sustained endocrine profiles of a girl with WAGR syndrome

Abstract Background Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined. Case presentation We report a 5-year-old girl with the typical phenotype of WAGR syndrome. She showed profound delays in physical growth, motor and cognitive development without signs of obesity. Array comparative genome hybridization (CGH) revealed that she carried a 14.4 Mb deletion at 11p14.3p12, encompassing the WT1, PAX6 and BDNF genes. She experienced recurrent hypoglycemic episodes at 5 years of age. Insulin tolerance and hormonal loading tests showed normal hypothalamic responses to the hypoglycemic condition and other stimulations. Methylation analysis for freshly prepared DNA from peripheral lymphocytes using the pyro-sequencing-based system showed normal patterns of methylation at known imprinting control regions. Conclusions Children with WAGR syndrome may manifest profound delay in postnatal growth through unknown mechanisms. Epigenetic factors and growth-associated genes in WAGR syndrome remain to be characterized

A childhood-onset intestinal toxemia botulism during chemotherapy for relapsed acute leukemia

Abstract Background Botulism is a potentially fatal infection characterized by progressive muscle weakness, bulbar paralysis, constipation and other autonomic dysfunctions. A recent report suggested that cancer chemotherapy might increase the risk for the intestinal toxemia botulism in both adults and children. Case presentation We report a 5-year-old boy, who developed general muscle weakness, constipation, ptosis and mydriasis during the third induction therapy for relapsed acute myeloid leukemia. He had recent histories of multiple antibiotic therapy for bacteremia and intake of well water at home. Repeated bacterial cultures identified Clostridium botulinum producing botulinum neurotoxin A. Botulinum toxin A was isolated from his stools at 17, 21, and 23 days after the onset. Symptoms were self-limiting, and were fully recovered without anti-botulinum toxin globulin therapy. Conclusion This is the second report of a pediatric case with cancer chemotherapy-associated intestinal toxemia botulism. Our case provides further evidence that the immunocompromised status due to anti-cancer treatments increases the risk for the development of botulism at all ages in childhood

The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S

Abstract Background Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disease characterized by the episodic weakness of skeletal muscles and hypokalemia. More than half patients with HypoPP carry mutations in CACNA1S, encoding alpha‐1 subunit of calcium channel. Few reports have documented the non‐neuromuscular phenotypes of HypoPP. Methods The proband is a Japanese woman who developed HypoPP at 6 years of age. An excessive insulin secretion with the oral glucose tolerance test rationalized that she had experienced frequent attacks of paralysis on high‐carbohydrate diets. Results Voglibose and acetazolamide effectively controlled her paralytic episodes. Her 8‐year‐old son and 2‐year‐old daughter started showing the paralytic symptoms from 4 and 2 years of age, respectively. Laboratory tests revealed high concentrations of creatinine kinase in serum and elevated renin activities in plasma of these children. The targeted sequencing confirmed that these three patients had an identical heterozygous mutation (p.V876E) in CACNA1S. Conclusion Our data indicate that the p.V876E mutation in CACNA1S contributes to the early onset of neuromuscular symptoms and unusual clinical phenotypes of HypoPP

Yonemoto_SM_0214_2018 – Supplemental material for Early Intervention With Adrenocorticotropin for Acute Encephalopathy-Associated Epileptic Spasms: Report of Two Cases

<p>Supplemental material, Yonemoto_SM_0214_2018 for Early Intervention With Adrenocorticotropin for Acute Encephalopathy-Associated Epileptic Spasms: Report of Two Cases by Kousuke Yonemoto, Yuko Ichimiya, Masafumi Sanefuji, Noriyuki Kaku, Ayumi Sakata, Rieko Baba, Fumiya Yamashita, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Yoshihiko Maehara, Yasunari Sakai and Shouichi Ohga in Clinical EEG and Neuroscience</p

Additional file 1: of Sustained endocrine profiles of a girl with WAGR syndrome

For cytogenetics, quantitative PCR for copy number and gene expression analyses, methylation analysis, and ethics statement. Figure S1. Neuro-endocrine profile of the present case. Table S1. Methylation profile of the present case. Additional file References 1–3. (PDF 652 kb

Additional file 1: of De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis

This file contains supplementary methods with one table (Table S1), the clinical course of this case (one supplementary figure 1), and supplementary data for whole-exome sequencing analysis (Tables S2-5 and supplementary figure 2). (PDF 1180 kb