Diagnostic challenges of primary diffuse leptomeningeal melanomatosis in early adolescence: A case report
Primary diffuse leptomeningeal melanomatosis is an extremely rare variant of primary melanoma of the central nervous system. It is characterized by a variety of nonspecific clinical, radiological, and histopathological features requiring differential diagnosis from a variety of diseases. Here, we aimed to use our own clinical case as an example of the difficulties in the diagnosis of this disease. (Source: Brain and Development)
Source: Brain and Development - March 5, 2022 Category: Neurology Authors: Syoko Yamauhci, Tetsuhiro Fukuyama, Yuji Inaba, Hideko Nakajima, Yuka Hattori, Yosuke Miyairi, Yoshihumi Ogiso Tags: Case Report Source Type: research
Editorial Board
(Source: Brain and Development)
Source: Brain and Development - March 1, 2022 Category: Neurology Source Type: research
Cover
(Source: Brain and Development)
Source: Brain and Development - March 1, 2022 Category: Neurology Source Type: research
Contents
(Source: Brain and Development)
Source: Brain and Development - March 1, 2022 Category: Neurology Source Type: research
A case of focal cortical dysplasia type IIa with pathologically suspected bilateral Rasmussen syndrome
Rasmussen syndrome (RS) is a rare neurological disorder characterized by unilateral chronic inflammation, drug-resistant epilepsy, and progressive neurological and cognitive deterioration. There has been no detailed pathological evaluation or finding, including focal cortical dysplasia, for bilateral RS. (Source: Brain and Development)
Source: Brain and Development - February 28, 2022 Category: Neurology Authors: Masataka Fukuoka, Ichiro Kuki, Yuka Hattori, Hitomi Tsuji, Asako Horino, Megumi Nukui, Takeshi Inoue, Shin Okazaki, Hisashi Kawawaki, Noritsugu Kunihiro, Takehiro Uda, Takeshi Inoue, Yukitoshi Takahashi Tags: Case Report Source Type: research
Lacosamide monotherapy for the treatment of childhood epilepsy with centrotemporal spikes
This study aimed to evaluate the efficacy of lacosamide monotherapy for the treatment of CECTS. (Source: Brain and Development)
Source: Brain and Development - February 28, 2022 Category: Neurology Authors: Tohru Okanishi, Yuji Fujii, Satoru Sakuma, Hideaki Shiraishi, Hirotaka Motoi, Kotaro Yazaki, Hideo Enoki, Ayataka Fujimoto Tags: Original article Source Type: research
Overlapping features of restless legs syndrome and growing pains in Turkish children and adolescents
Restless legs syndrome (RLS) and growing pains (GPs) share many common features and are sometimes overlapping diagnoses. The present study aims to investigate the shared features of patients with RLS, classified based on the 2013 diagnostic criteria of International Restless Legs Syndrome Study group and of patients with GPs, diagnosed based on the combined criteria proposed in 2013. (Source: Brain and Development)
Source: Brain and Development - February 24, 2022 Category: Neurology Authors: Dil şad Türkdoğan, Ramin Mahmudov Tags: Original article Source Type: research
Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy
Mutation of the SPTAN1 gene, which encodes α-fodrin (non-erythrocyte α-II spectrin), is one of the causes of developmental and epileptic encephalopathies (DEEs). SPTAN1-related DEE is radiologically characterized by cerebral atrophy, especially due to white matter volume reduction, hypomyelination, pontocerebellar hypoplasia, and a thin co rpus callosum, however, no neurochemical analysis has been reported. (Source: Brain and Development)
Source: Brain and Development - February 23, 2022 Category: Neurology Authors: Yuka Sakata, Kentaro Sano, Shintaro Aoki, Hirotomo Saitsu, Jun-ichi Takanashi Tags: Case Report Source Type: research
Differentiating early clinical features of Panayiotopoulos syndrome from acute encephalopathy
In this study, we aimed to elucidate the differences in clinical features of patients with PS and acute encephalopathy who visited our ER. (Source: Brain and Development)
Source: Brain and Development - February 10, 2022 Category: Neurology Authors: Saori Kawakami, Masaya Kubota, Hiroshi Terashima, Chie Nagata, Akira Ishiguro Tags: Original article Source Type: research
Retrocollis as the cardinal feature in a de novo ITRP1 variant
ITPR1 gene encodes inositol 1,4,5-trisphosphate-receptor-type 1, a Ca2+ channel highly expressed in cerebellar Purkinje cells. ITPR1 gene variants, through a loss-of-function mechanism, have been found to be related with the manifestation of spinocerebellar ataxia (SCA) 15, an adult-onset slow progressive cerebellar ataxia, SCA 29, a rare non-progressive congenital cerebellar ataxia and Gillepsie syndrome (SCA 29 phenotype plus aniridia). They share an heterogeneity of additional phenotypic features while no genotype-phenotype correlation has ever been found. (Source: Brain and Development)
Source: Brain and Development - February 8, 2022 Category: Neurology Authors: Athena Zachou, Danai Palaiologou, Emmanouil Kanavakis, Evangelos Anagnostou Tags: Case Report Source Type: research
Editorial Board
(Source: Brain and Development)
Source: Brain and Development - February 3, 2022 Category: Neurology Source Type: research
Cover
(Source: Brain and Development)
Source: Brain and Development - February 3, 2022 Category: Neurology Source Type: research
Contents
(Source: Brain and Development)
Source: Brain and Development - February 3, 2022 Category: Neurology Source Type: research
Subcortical infarction in a young adult with Hunter syndrome
Hunter syndrome (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disease caused by deficiency of iduronate-2-sulfatase. Recently, stroke caused by embolization with Hunter syndrome has been reported. Here, we report the case of a 23-year-old Japanese man with Hunter syndrome who developed subcortical infarction by the mechanism similar to branch atheromatous disease (BAD). (Source: Brain and Development)
Source: Brain and Development - February 3, 2022 Category: Neurology Authors: Motoya Kimura, Yoshiteru Azuma, Soutarou Taguchi, Mizuki Takagi, Hiromitsu Mori, Yasuto Shimomura, Jun-Ichi Niwa, Manabu Doyu, Akihisa Okumura Tags: Case Report Source Type: research
The effectiveness of intravenous benzodiazepine for status epilepticus in Dravet syndrome
We aimed to evaluate choice and efficacy of intravenous antiepileptic drugs (AEDs) for status epilepticus (SE) in Dravet syndrome and to find predictable clinical features demonstrating the effectiveness of benzodiazepine (BZD) for SE. (Source: Brain and Development)
Source: Brain and Development - February 1, 2022 Category: Neurology Authors: Kenjiro Kikuchi, Shin-ichiro Hamano, Ryuki Matsuura, Hazuki Nonoyama, Atsuro Daida, Yuko Hirata, Reiko Koichihara, Daishi Hirano, Atsushi Ishii, Shinichi Hirose Tags: Original article Source Type: research
