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1.
Shu Zhang Qian-qian Mei Jing Xin Hong-ying Zhang Shi-wen Wu Chun-feng Liu 《Brain & development》2018,40(5):391-396
Objective
Progressive weakness of respiratory muscles remains one of the leading causes of death among patients with Duchenne muscular dystrophy (DMD). Currently, there are few pulmonary function data among Chinese DMD patients. This study was carried out to evaluate the sniff nasal inspiratory pressure (SNIP) change among a group of Chinese DMD patients, and compare it with the SNIP value of patients with neuromuscular disorders in other countries.Methods
SNIP data were collected in three research groups that consists of 581 subjects: 125 DMD boys who have taken steroid (Age 5.0–13.3, DMD-steroid group), 145 DMD steroid-naive boys (Age 5.0–13.9, DMD-nonsteroid group), and 311 healthy controls (Age 5.0–14.0, Control group).Results
The SNIP for DMD-nonsteroid group, DMD-steroid group and Control group were: 56.5 (±14.3)?cm H2O,66.4 (±15.5)?cm H2O and 78.9 (±21.5) respectively. The SNIP in the DMD-nonsteroid group became significantly different from that of the healthy controls since age 7.0–8.9. The significant difference of SNIP between DMD-steroid group and DMD-nonsteroid group at age 7.0–10.9. The peak value of SNIP in the DMD-nonsteroid group appeared at age 8.7, and decreased dramatically thereafter, while in DMD-steroid group and the Control group peaked at 10.2?years and 12.2?years respectively. There was a bit difference between SNIP in this group and that in previous researches which may be due to geographical distribution and ethnic backgrounds.Conclusion
This study strengthens the previous findings that SNIP can be used to evaluate respiratory dysfunction during the early stage of young patients with neuromuscular disorders, and demonstrates that steroid is effective in slowing the decrease of SNIP in this group of Chinese DMD boys. 相似文献2.
Vykuntaraju K. Gowda Tamilarasan Udhayabanu Perumal Varalakshmi Varunvenkat M. Srinivasan Balasubramaniem Ashokkumar 《Brain & development》2018,40(7):582-586
Background
Fazio-Londe syndrome also called progressive bulbar palsy of childhood is a very rare motor neuron disease of pediatric age group characterized by progressive paralysis of lower cranial nerves.Objective
To describe Fazio-Londe syndrome in sibling with different phenotype.Methods
A 6?years old female child presented with inability to close eyes, difficulty in swallowing, respiratory muscle weakness and voice change since 5?yr of age. Examination showed lower motor neuron facial nerve palsy, absent gag reflex, tongue atrophy, fasciculation, limb wasting and exaggerated deep tendon reflexes. An 11?year old boy, elder sibling of the above child presented with similar complaints at 10?years of age, other than later onset and lack of respiratory problem. Genetic testing in both cases confirmed the diagnosis of Fazio-Londe Syndrome.Conclusion
In any child who presents with progressive bulbar palsy with lower motor neuron facial palsy a diagnosis of Fazio-Londe Syndrome should be considered and family members should also be screened. 相似文献3.
Eri Takeshita Hirofumi Komaki Hisateru Tachimori Kazuhisa Miyoshi Ikuo Yamamiya Yuko Shimizu-Motohashi Akihiko Ishiyama Takashi Saito Eiji Nakagawa Kenji Sugai Masayuki Sasaki 《Brain & development》2018,40(10):918-925
Background
Patients with Duchenne muscular dystrophy (DMD) exhibit increased prostaglandin D2 (PGD2) expression in necrotic muscle and increased PGD2 metabolites in their urine. In mouse models, inhibiting PGD2 production suppresses muscle necrosis, suggesting a possible intervention through PGD2-mediated activities.Objective
We investigated the involvement of PGD2 and its potential use as a marker of pathological progression in DMD.Methods
Sixty-one male children with DMD and thirty-five age-matched controls were enrolled in the study. DMD patients were divided into “ambulant” and “non-ambulant” groups, which were further subdivided into “steroid” and “non-steroid” therapy groups. Levels of the PGD2 metabolite tetranor-PGDM (t-PGDM) and creatinine were measured in both spot and 24-hour urine samples, with comparisons between groups made according to geometric mean values.Results
DMD patients had significantly higher levels of creatinine-corrected t-PGDM in spot urine samples as compared with the control group. Additionally, both ambulant and non-ambulant DMD groups had significantly higher levels of t-PGDM as compared with controls, with no significant difference in t-PGDM levels observed between steroid and non-steroid groups. Moreover, total creatinine excretion in 24-hour urine samples was significantly lower in DMD patients as compared with controls, and although DMD patients had lower muscle mass than controls, their overall levels of t-PGDM did not differ significantly from those in the non-ambulant and control groups.Conclusion
PGD2 might help explain the progression and symptomatic presentations (e.g., ambulatory difficulty) associated with DMD, suggesting it as a useful pathological marker and use of a selective PGD2 inhibitor as a potential treatment modality. 相似文献4.
Takeshi Kouga Mariko Takagi Akihiko Miyauchi Hiroko Shimbo Mizue Iai Sumimasa Yamashita Kei Murayama Matthew B. Klein Guy Miller Tomohide Goto Hitoshi Osaka 《Brain & development》2018,40(2):145-149
Background
Leigh syndrome is a mitochondrial disease caused by respiratory chain deficiency, and there are no proven effective therapies. EPI-743 is a potent cellular oxidative stress protectant and results of clinical trials for mitochondrial diseases are accumulating.Case
At 5 months, a girl presented with the scarce eye movement and diminished muscle tone. She was diagnosed with Leigh encephalopathy from blood and cerebrospinal fluid lactate elevation and MRI findings. Sequence analysis for mitochondrial DNA revealed a T10158C mutation in the mitochondrial encoded ND3 gene in complex I.Results
At 8 months, succinate was prescribed expected to restore the electron transport chain system. After that her condition got worse and succinate was discontinued. Subsequent administration of EPI-743 improved her eye movement, fine motor movements of the extremities, and bowel movement. She is now 5 years old. Although brain atrophy has progressed, she has still respiratory free time.Conclusion
Our patient showed visible improvement with EPI-743 treatment and the only patient surviving after 4 years. There is a possibility that EPI-743 is modifying the natural course of the syndrome. 相似文献5.
Hiroyuki Awano Chieko Itoh Yasuhiro Takeshima Tomoko Lee Masaaki Matsumoto Akihiro Kida Toshihiko Kaise Takeo Suzuki Masafumi Matsuo 《Brain & development》2018,40(6):465-472
Introduction
Few long-term cohort studies have addressed changes in the ambulatory capacity of patients with Duchenne muscular dystrophy (DMD), and no reports have evaluated the factors associated with ambulatory capacity in Japanese.Methods
The longitudinal changes in 10-meter run/walk ability and associated factors were retrospectively investigated using general practice data. The factors associated with loss of this ability before the age of 10?years were explored by logistic regression analysis using parameters of genetic mutations, corticosteroid use, the manual muscle test (MMT), and the joint range of motion (ROM). Explanatory variables of MMT grade included hip flexors, knee flexors, and knee extensors; ROM included hip extension, knee extension, and ankle dorsiflexion.Results
Among 418 patients diagnosed with DMD, 145 patients underwent the 10-meter run/walk test between March 1999 and July 2015. The median age at loss of 10-meter walking ability was 10.4 (interquartile range: 9.2–11.3) years. The 10-meter run/walk speed began to decline 3?years before the loss of 10-meter walking ability, and the median was <1?m/s 1?year before the loss of 10-meter walking ability. MMT grade for knee flexors and ROM for hip and knee extension were identified as independent predictors. Based on the change over time of these three items, limitation of the hip extension ROM preceded knee flexor weakness and limitation of the knee extension ROM.Conclusions
This knowledge can be used in optimizing rehabilitation programs and evaluating effect of treatment for DMD patients. 相似文献6.
Hiroo Tani Nobutsune Ishikawa Yoshiyuki Kobayashi Shohei Yamaoka Yuji Fujii Kimihiko Kaneko Toshiyuki Takahashi Masao Kobayashi 《Brain & development》2018,40(10):943-946
Background
Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, resulting in developmental regression after normal development during infancy. Transient presentation of many autistic features is also commonly seen in RTT. Anti-myelin oligodendrocyte glycoprotein (MOG)-antibody encephalitis is an acquired relapsing demyelinating syndrome characterized by a variety of neuroinflammatory symptoms. Here, we report a case of anti-MOG antibody encephalitis in a patient with genetically confirmed RTT, which mimicked many of the features of RTT.Case report
A three-year-old girl presented with subacute verbal and motor dysfunction, along with involuntary movements and marked irritability. Magnetic resonance imaging (MRI) revealed extensive white matter lesions, with anti-MOG antibodies detected in the serum and cerebrospinal fluid, resulting in an initial diagnosis of anti-MOG antibody encephalitis. However, additional testing of the MECP2 gene was performed in response to persistent involuntary hand movements in combination with progressive verbal and motor deterioration. Sequencing analysis revealed a known pathogenic mutation in MEPC2, indicating a concurrent diagnosis of RTT.Conclusion
Both RTT and anti-MOG antibody encephalitis are rare conditions. Similarities in disease presentation suggest that anti-MOG antibody encephalitis may mimic many of the symptoms of RTT. 相似文献7.
Tetsushi Yamamoto Mariko Taniguchi-Ikeda Hiroyuki Awano Masaaki Matsumoto Tomoko Lee Risa Harada Takamitsu Imanishi Nobuhide Hayashi Yoshitada Sakai Ichiro Morioka Yasuhiro Takeshima Kazumoto Iijima Jun Saegusa Tatsushi Toda 《Brain & development》2017,39(10):861-868
Background
One of the main complications in patients with muscular dystrophies is cardiac dysfunction. The literature on cardiac involvement in patients with Fukuyama congenital muscular dystrophy (FCMD) is limited.Aim
To compare cardiac involvement between patients with FCMD and Duchenne muscular dystrophy (DMD).Methods
We compared cardiac involvement between 30 patients with FCMD and 181 patients with DMD using echocardiography and serum biomarkers. All patients were receiving regular checkups at Kobe University Hospital. We used single regression analysis to compare echocardiographic parameters, age, and serum biomarkers.Results
Almost all clinical and echocardiographic parameters were lower in patients with FCMD than DMD. The brain natriuretic peptide concentration in patients with FCMD showed no correlation with age or left ventricular ejection fraction (r = 0.231, p = 0.22 and r = 0.058, p = 0.76, respectively). A log-rank test revealed that the risk of left ventricular systolic dysfunction was lower in patients with FCMD than DMD (p = 0.046, hazard ratio = 0.348).Conclusion
The clinical progression of cardiac dysfunction is significantly milder in patients with FCMD than DMD, while skeletal muscle involvement is significantly worse in patients with FCMD. These data suggest that the pathophysiological findings of FCMD can be explained by less severe cardiac dysfunction in FCMD than DMD. 相似文献8.
9.
Yukari Miyakawa Tatsuo Fuchigami Masako Aoki Yusuke Mine Junichi Suzuki Tatsuhiko Urakami Shori Takahashi 《Brain & development》2018,40(7):592-595
Background
Neurological manifestations caused by hypoglycemia range from reversible focal deficits and transient encephalopathy to irreversible coma or death. Recently, high signal intensity lesions in the splenium of the corpus callosum on diffusion-weighted magnetic resonance imaging were reported in adults experiencing hypoglycemia. However, patients presenting with agraphia are rare.Subject and methods
We examined a 17-year-old left-handed female patient with type 1 diabetes who exhibited transient left agraphia with a reversible splenium lesion of the corpus callosum on diffusion-weighted imaging caused by hypoglycemia, which was improved with blood glucose management alone.Conclusion
This rare case indicates that agraphia, a sign of callosal disconnection syndrome, can result from a reversible splenial lesion of the corpus callosum caused by hypoglycemia. 相似文献10.
Toru Takaori Akira Kumakura Atsushi Ishii Shinichi Hirose Daisuke Hata 《Brain & development》2017,39(1):72-74
Background
SCN1A is the gene that codes for the neuronal voltage-gated sodium-channel alpha-subunit 1. It is generally considered that an SCN1A truncating mutation causes the severe phenotype of Dravet syndrome.Patients
We describe 11- and 4-year-old male patients presenting with mild Dravet syndrome with a truncating mutation of SCN1A. The former patient showed moderate mental retardation; however, seizure was controlled to almost one incident a year by levetiracetam and topiramate. Carbamazepine was also effective, which is atypical of Dravet syndrome. The latter patient showed a borderline developmental quotient and did not have episodes of afebrile seizure.Conclusion
Two patients presented with mild Dravet syndrome, even though they had a truncating mutation of SCN1A. Not all truncating mutations of SCN1A cause the severe phenotype of Dravet syndrome. 相似文献11.
Introduction
SLC13A5-related epileptic encephalopathy is a recently described autosomal recessive disorder that is characterized by infantile epilepsy and developmental delay. Seizures are markedly drug resistant and often induced by fever; they mainly occur in clusters, sometimes evolving into status epilepticus.Methods and results
We report the use of stiripentol as an adjunctive therapy in three siblings with drug-resistant SLC13A5-related epilepsy. The three patients showed remarkable improvement in the severity and frequency of seizures, status epilepticus, emergency department visits, and alertness.Conclusion
These observations extend the use of stiripentol beyond the classical Dravet syndrome, and further studies on the use of this drug in drug-resistant epilepsy, mainly of genetic origin, are warranted. 相似文献12.
Yohane Miyata Ken Saida Satoko Kumada Noriko Miyake Hideaki Mashimo Yuya Nishida Ikuko Shirai Eiji Kurihara Yasuhiro Nakata Naomichi Matsumoto 《Brain & development》2018,40(7):566-569
Background
Coffin-Lowry syndrome is a rare X-linked disease, caused by loss-of-function mutations in the RPS6KA3 gene. Patients exhibit severe intellectual disability with characteristic dysmorphism. As there are no specific laboratory findings to support the diagnosis of Coffin-Lowry syndrome, it may be difficult to diagnose—especially in young children, where the characteristic craniofacial features are less discernible.Case
Here we report on a 2-year-old boy with Coffin-Lowry syndrome with a novel missense mutation in the RPS6KA3 gene. On magnetic resonance imaging, his brain exhibited periventricular signal abnormalities with multiple small cystic lesions. These findings may aid in diagnosis of Coffin-Lowry syndrome. 相似文献13.
Daisuke Sawada Katsunori Fujii Sonoko Misawa Tadashi Shiohama Tomoyuki Fukuhara Mayuko Fujita Satoshi Kuwabara Naoki Shimojo 《Brain & development》2018,40(9):830-832
Background
Guillain-Barré syndrome is an acute immune-mediated peripheral polyneuropathy. Neuroimaging findings from patients with this syndrome have revealed gadolinium enhancement in the cauda equina and in the anterior and posterior nerve roots, but intra-spinal lesions have never been described.Aim
Herein, we report, for the first time, bilateral spinal anterior horn lesions in a patient with an acute motor axonal neuropathy form of Guillain-Barré syndrome.Case
The patient was a previously healthy 13-year-old Japanese girl, who exhibited acute-onset flaccid tetraplegia and loss of tendon reflexes.Results
Nerve conduction studies revealed motor axonal damage, leading to the diagnosis of acute motor axonal neuropathy. Notably, spinal magnetic resonance imaging revealed bilateral anterior horn lesions on T2-weighted imaging at the Th11–12 levels, as well as gadolinium enhancement of the cauda equina and anterior and posterior nerve roots. The anterior horn lesions were most prominent on day 18, and their signal intensity declined thereafter. Although intravenous treatment with immunoglobulins was immediately administered, the motor function was not completely regained.Conclusion
We propose that anterior spinal lesions might be responsible for the prolonged neurological disability of patients with Guillain-Barré syndrome, possibly produced by retrograde progression from the affected anterior nerve roots to the intramedullary roots, and the anterior horn motor neurons. 相似文献14.
Yusuke Takezawa Hiromi Fujie Atsuo Kikuchi Tetsuya Niihori Ryo Funayama Matsuyuki Shirota Keiko Nakayama Yoko Aoki Masayuki Sasaki Shigeo Kure 《Brain & development》2018,40(10):934-938
Background
IARS2 encodes isoleucine-tRNA synthetase, which is aclass-1 amino acyl-tRNA synthetase. IARS2 mutations are reported to cause Leigh syndrome or cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysphasia syndrome (CAGSSS). To our knowledge, IARS2 mutations and diseases related to it have only been reported in three families. Here we report a case of two Japanese siblings with Leigh syndrome, some features of CAGSSS, and West syndrome that are found to have compound heterozygous novel IARS2 mutations.Case report
A 7-month-old Japanese girl presented with infantile spasms. Brain magnetic resonance imaging (MRI) revealed diffuse brain atrophy and hyperintensity in the bilateral basal ganglia. Three years later, her younger sister also presented with infantile spasms. MRI revealed diffuse brain atrophy and hyperintensity of the bilateral ganglia, suggesting Leigh syndrome. The siblings were identified with compound heterozygous missense mutations in IARS2, p.[(Phe227Ser)];[(Arg817His)].Conclusion
This is the first case study reporting Leigh syndrome concomitant with some features of CAGSSS in siblings with novel IARS2 mutations, thereby broadening the phenotypic spectrum of IARS2-related disorders. Further studies are warranted to elucidate the nature of these disorders. 相似文献15.
Hiroyuki Miyahara Tomoyuki Akiyama Kenji Waki Yoshio Arakaki 《Brain & development》2018,40(9):781-785
Background
Nonepileptic twilight state with convulsive manifestations (NETC) is a nonepileptic state following a febrile seizure (FS), which may be misdiagnosed as a prolonged seizure and result in overtreatment. We aimed to describe clinical manifestations of NETC and to determine characteristics that are helpful to distinguish NETC from other pathological conditions.Methods
We conducted a retrospective chart review from January 2010 to December 2016 and selected the patients who presented with symptoms resembling status epilepticus with fever and a confirmed diagnosis using an electroencephalogram (EEG). We compared the NETC clinical features and venous blood gas analysis results with those of other conditions that mimic NETC. We also compared the characteristics of NETC with past reports.Results
Our NETC patients presented with short durations of the preceding generalized convulsions followed by tonic posturing, closed eyes, no cyanosis, responsiveness to painful stimulation, and no accumulation of CO2 in the venous blood gas. Most of these characteristics were consistent with past reports. Prolonged FS or acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) showed several of these features, but all the characteristics were not consistent with our study.Conclusions
Prolonged FS and AESD need to be differentiated from NETC, and close clinical observation makes it possible to partially distinguish NETC from the other conditions. EEG is recommended for patients with symptoms that are inconsistent with these features. 相似文献16.
Yuko Hirata Shin-ichiro Hamano Satoru Ikemoto Atsuko Oba Ryuki Matsuura 《Brain & development》2018,40(10):841-849
Objective
To quantitatively evaluate regional cerebral blood flow (rCBF) and regional developmental changes during childhood using 123I-N-isopropyl-iodoamphetamine single-photon emission computed tomography (SPECT) and autoradiography.Methods
We retrospectively analyzed quantitative values of rCBF in 75 children (29 girls) aged between 16?days and 178?months (median: 12?months), whose brain images, including magnetic resonance imaging and SPECT data, were normal under visual inspection at Saitama Children’s Medical Center between 2005 and 2015. The subjects had normal psychomotor development, no focal neurological abnormalities, and neither respiratory nor cardiac disease at the time of examination. Regions of interest were placed automatically using a three-dimensional stereotactic template.Results
rCBF was lowest in neonates, who had greater rCBF in the lenticular nucleus, thalamus, and cerebellum than the cerebral cortices. rCBF increased rapidly during the first year of life, reaching approximately twice the adult levels at 8?years, and then fell to approximately adult levels in the late teenage years. Cerebral cortex rCBF sequentially increased in the posterior, central, parietal, temporal, and callosomarginal regions during infancy and childhood.Conclusions
rCBF changed dramatically throughout childhood and ranged from lower than adult values to approximately two times higher than adult values. It had different trajectories in each region during brain development. Understanding this dynamic developmental change is necessary for SPECT image evaluation in children. 相似文献17.
Aya Wada Kazuhiro Muramatsu Yasuo Sunaga Takahisa Mizuno Mariko Takei Satoshi Ogasawara Miho Uchida Kiwako Tsukida Masahiko Tashiro 《Brain & development》2018,40(3):242-246
Introduction
The relevant literature includes several case reports on cerebral infarction in children with HHV-6 infection; however, there is no report of brain stem infarction.Case
An 11-month-old girl was hospitalized because of fever. She was unable to stand up and meet her mother’s gaze. Magnetic resonance imaging (MRI) indicated a right pons and mid-brain lesion; a diagnosis of brainstem infarction was made. After her fever subsided, a rash developed on her trunk and limbs; blood examination results indicated a primary HHV-6 infection. She was treated with aspirin, edaravone, and mannitol to prevent further complications. At the age of 18 months, the auditory brainstem response (ABR) was unremarkable and she is developing well.Discussion and conclusion
A limited number of studies have reported HHV-6 infection-associated infarction, and no cases of brainstem infarction have been reported. One possible cause of cerebral infarction is antiphospholipid antibody syndrome (APS) triggered by the infection. HHV-6 may also directly infect vascular endothelial cells and cause angiopathy. However, the real mechanism of infarction remains unclear. Our patient had a favorable prognosis despite brainstem infarction. 相似文献18.
Objective
We aimed to evaluate diaphragm spasticity by measuring diaphragm compound muscle action potentials (CMAPs) to phrenic nerve stimulation at end-expiration (exp) and at full-inspiration (insp) in amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS) and aged-matched controls. We also compared diaphragmatic responses of ALS patients with and without spasticity.Methods
Diaphragm CMAPs were recorded from 111 ALS patients, 15 PLS patients and 36 controls. Percentage of change (%insp-exp) was calculated for each neurophysiological measure. Clinical evaluation included: functional ALS scale, spasticity and forced vital capacity.Results
Diaphragmatic exp and insp CMAPs in ALS patients had longer latency, lower peak-to-peak amplitude and smaller negative-peak area (all p?<?0.05). ANCOVA analysis for %insp-exp differences across groups, taking into account end-expiration values, revealed a group effect for peak-to-peak amplitude (all p?<?0.001) and negative-peak area (all p?<?0.01). For both measures, the change in ALS and PLS patients was smaller than controls (all p?<?0.05). Among ALS patients, those without spasticity (74%) had longer latency, lower peak-to-peak amplitude and smaller negative-peak area (all p?<?0.05).Conclusions
Upper motor neuron involvement changes physiological variability of diaphragmatic CMAPs, likely due to decreased muscle shortening and mobility.Significance
Spasticity impacts on diaphragm electrophysiology, with potential implications in respiratory function. 相似文献19.
Tushar Issar Ria Arnold Natalie C.G. Kwai Bruce A. Pussell Zoltan H. Endre Ann M. Poynten Matthew C. Kiernan Arun V. Krishnan 《Clinical neurophysiology》2018,129(5):889-894
Objective
To demonstrate construct validity of the Total Neuropathy Score (TNS) in assessing peripheral neuropathy in subjects with chronic kidney disease (CKD).Methods
113 subjects with CKD and 40 matched controls were assessed for peripheral neuropathy using the TNS. An exploratory factor analysis was conducted and internal consistency of the scale was evaluated using Cronbach’s alpha. Construct validity of the TNS was tested by comparing scores between case and control groups.Results
Factor analysis revealed valid item correlations and internal consistency of the TNS was good with a Cronbach’s alpha of 0.897. Subjects with CKD scored significantly higher on the TNS (CKD: median, 6, interquartile range, 1–13; controls: median, 0, interquartile range, 0–1; p?<?0.001). Subgroup analysis revealed construct validity was maintained for subjects with stages 3–5 CKD with and without diabetes.Conclusions
The TNS is a valid measure of peripheral neuropathy in patients with CKD.Significance
The TNS is the first neuropathy scale to be formally validated in patients with CKD. 相似文献20.
Jin Sook Lee Jong-Moon Choi Moses Lee Soo Yeon Kim Sangmoon Lee Byung Chan Lim Jung-Eun Cheon In-One Kim Ki Joong Kim Murim Choi Moon-Woo Seong Jong-Hee Chae 《Brain & development》2018,40(5):383-390