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Child neurology

This section is dedicated to all aspects of pediatric neurology. Topics of interest include, but are not limited to, pediatric neuroradiology including MRI, fetal MRI, autism, epilepsy and beta thalassemia.

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  1. A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant (NM_001076683.1:c.628G>A, hg19). Phen...

    Authors: Filipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, Beryl Royer-Bertrand, Heidi Fodstad, Carlo Rivolta, Claudia Poloni, Andrea Superti-Furga, Eliane Roulet-Perez and Sebastien Lebon

    Citation: BMC Neurology 2020 20:17

    Content type: Case report

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  2. X-linked agammaglobulinaemia (XLA) is a rare inherited primary immunodeficiency disease characterized by the B cell developmental defect, caused by mutations in the gene coding for Bruton’s tyrosine kinase (BT...

    Authors: Ya-Ni Zhang, Yuan-Yuan Gao, Si-Da Yang, Bin-Bin Cao, Ke-Lu Zheng, Ping Wei, Lian-Feng Chen and Wen-Xiong Chen

    Citation: BMC Neurology 2019 19:320

    Content type: Case report

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  3. Cerebral palsy (CP) is considered as the main cause of severe physical impairment and malnutrition in children. This cross-sectional study intended to survey the nutritional status of children cerebral palsy i...

    Authors: Abdul Rahman Almuneef, Ali Almajwal, Iftikhar Alam, Mahmoud Abulmeaty, Bader Al Bader, Mohamed Farouq Badr, May Almuammar and Suhail Razak

    Citation: BMC Neurology 2019 19:317

    Content type: Research article

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  4. Lumbosacral lipomas (LLs) may remain asymptomatic or lead to progressive neurological deterioration. However, sudden neurological deterioration is a rare and severe event. Herein, we report rare occurrences of...

    Authors: Luca Massimi, Thailane Maria Feitosa Chaves, François Yves Legninda Sop, Paolo Frassanito, Gianpiero Tamburrini and Massimo Caldarelli

    Citation: BMC Neurology 2019 19:189

    Content type: Case report

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  5. Acquired epileptiform opercular syndrome (AEOS) with electrical status epilepticus during sleep (ESES) may be recurrent and intractable. The real-time transcranial Doppler ultrasound–sleep-deprived video elect...

    Authors: Bing-Wei Peng, Hui-Ci Liang, Jia-Ling Li, Si-Yuan Yang, Wei Liang, Feng-Qiong Zhang and Wen-Xiong Chen

    Citation: BMC Neurology 2019 19:166

    Content type: Case report

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  6. Likely duration of survival of children described as having cerebral palsy is of considerable interest to individuals with cerebral palsy, their families, carers, health professionals, health economists and in...

    Authors: Eve Blair, Katherine Langdon, Sarah McIntyre, David Lawrence and Linda Watson

    Citation: BMC Neurology 2019 19:111

    Content type: Research article

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  7. The study is intended to fill the knowledge gap about the neuropsychology and neuromotor developmental outcomes, and identify the perinatal risk factors for late preterm infants (LPIs 34~36 weeks GA) born with...

    Authors: Jia You, Bilal Haider Shamsi, Mei-chen Hao, Chun-Hong Cao and Wu-Yue Yang

    Citation: BMC Neurology 2019 19:108

    Content type: Research article

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  8. Rett syndrome (RTT) is a severe neurodevelopmental disorder mainly affecting females. One of the main clinical manifestations is hand stereotypies, which is presumed to based on dysfunction rather than on stru...

    Authors: Xiaoqing Luo, Cheng Li, Xiaolu Wang, Xiaoli Yu and Jun Jiang

    Citation: BMC Neurology 2019 19:77

    Content type: Case report

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  9. To evaluate whether a shorter time of lying supine without a pillow and fasting for solids and liquids (LSFSL) after a lumbar puncture (LP) is associated with a higher risk of post-lumbar puncture headache (PL...

    Authors: Bing Hu, Tian-ming Chen, Bing Liu, Wei Chi, Yi-qing Miao, Xiao-lu Nie, Xiao-xia Peng and Gang Liu

    Citation: BMC Neurology 2019 19:64

    Content type: Research article

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  10. Nodding syndrome is a poorly understood neurological disorder of unknown aetiology, affecting several thousand children in Africa. There has been a consistent epidemiological association with infection by the ...

    Authors: Richard Idro, Ronald Anguzu, Rodney Ogwang, Pamela Akun, Catherine Abbo, Amos Deogratius Mwaka, Bernard Opar, Phyellister Nakamya, Mark Taylor, Alison Elliott, Angela Vincent, Charles Newton and Kevin Marsh

    Citation: BMC Neurology 2019 19:35

    Content type: Study protocol

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  11. Posterior reversible encephalopathy syndrome (PRES) is a complication that occurs during various diseases’ treatment. Imaging examination is the gold standard for diagnosis. PRES frequently occurrence in patie...

    Authors: Li-Ping Zou, Li-Ying Liu, Hui Li, Yang-Yang Wang, Ying Liu, Jing Chen, Lin-Yan Hu, Meng-Jia Liu, Meng-Na Zhang, Qian Lu and Shu-Fang Ma

    Citation: BMC Neurology 2019 19:30

    Content type: Research article

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  12. Autism prevalence continues to grow, yet a universally agreed upon etiology is lacking despite manifold evidence of abnormalities especially in terms of genetics and epigenetics. The authors postulate that the...

    Authors: Frank H. Duffy and Heidelise Als

    Citation: BMC Neurology 2019 19:27

    Content type: Research article

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  13. Several neuroimaging studies have reported neurophysiological alterations in patients with benign childhood epilepsy with centrotemporal spikes (BCECTS). However, reported outcomes have been inconsistent, and ...

    Authors: Ye-Hwa Jun, Tae-Hoon Eom, Young-Hoon Kim, Seung-Yun Chung, In-Goo Lee and Jung-Min Kim

    Citation: BMC Neurology 2019 19:3

    Content type: Research article

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  14. Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by visual loss consequent to optic nerve atrophy. In some cases, LHON is associated with heterogeneous neurological extraocul...

    Authors: Eleonora Mauri, Robertino Dilena, Antonio Boccazzi, Dario Ronchi, Daniela Piga, Fabio Triulzi, Delia Gagliardi, Roberta Brusa, Irene Faravelli, Nereo Bresolin, Francesca Magri, Stefania Corti and Giacomo P. Comi

    Citation: BMC Neurology 2018 18:220

    Content type: Case report

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  15. The evaluation of children with cerebral palsy (CP) focuses on activity level measurement to examine the effect of health-care interventions on their physical functioning in the home, school, and community set...

    Authors: Soojung Chae, Eun-Young Park and Yoo-Im Choi

    Citation: BMC Neurology 2018 18:151

    Content type: Research article

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  16. Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2) is an extremely rare disease caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23. The syndrome causes not only numerous dysmor...

    Authors: Chien-Heng Lin, Wei-De Lin, I-Ching Chou, Inn-Chi Lee, Hueng-Chuen Fan and Syuan-Yu Hong

    Citation: BMC Neurology 2018 18:150

    Content type: Case report

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  17. Down syndrome (DS) is a common developmental disorder resulting from the presence of an additional copy of chromosome 21. Abnormalities in dopamine signaling are suggested to be involved in cognitive dysfuncti...

    Authors: Thanh Thi Mai Pham, Hiroki Kato, Haruyoshi Yamaza, Keiji Masuda, Yuta Hirofuji, Hiroshi Sato, Huong Thi Nguyen Nguyen, Xu Han, Yu Zhang, Tomoaki Taguchi and Kazuaki Nonaka

    Citation: BMC Neurology 2018 18:132

    Content type: Research article

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  18. Perinatal stroke (PS) affects up to 1/2300 infants and frequently leads to unilateral cerebral palsy (UCP). Preterm-born infants affected by unilateral haemorrhagic parenchymal infarction (HPI) are also at ris...

    Authors: Anna Purna Basu, Janice Pearse, Rose Watson, Pat Dulson, Jessica Baggaley, Blythe Wright, Denise Howel, Luke Vale, Dipayan Mitra, Nick Embleton and Tim Rapley

    Citation: BMC Neurology 2018 18:102

    Content type: Research article

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  19. Leigh Syndrome (LS, OMIM 256000) is an early-onset, progressive neurodegenerative disorder characterized by broad clinical and genetic heterogeneity; it is the most frequent disorder of mitochondrial energy pr...

    Authors: Paolo Aretini, Chiara Maria Mazzanti, Marco La Ferla, Sara Franceschi, Francesca Lessi, Veronica De Gregorio, Claudia Nesti, Angelo Valetto, Veronica Bertini, Benedetta Toschi, Roberta Battini and Maria Adelaide Caligo

    Citation: BMC Neurology 2018 18:99

    Content type: Case report

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  20. The treatment of cognitive deficits is challenging in pediatric onset multiple sclerosis (POMS) and in patients with attention deficit hyperactivity disorder (ADHD). We performed a pilot double-blind RCT to ev...

    Authors: Marta Simone, Rosa Gemma Viterbo, Lucia Margari and Pietro Iaffaldano

    Citation: BMC Neurology 2018 18:82

    Content type: Research article

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  21. Sarcoidosis is a multi-organ disease of unknown etiology characterised by the presence of epithelioid granulomas, without caseous necrosis. Systemic sarcoidosis is rare among children, while neurosarcoidosis i...

    Authors: Katsunori Shijo, Nobuhiro Moro, Mari Sasano, Mitsuru Watanabe, Hiroshi Yagasaki, Shori Takahashi, Taku Homma and Atsuo Yoshino

    Citation: BMC Neurology 2018 18:77

    Content type: Case report

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  22. Dyke-Davidoff-Masson syndrome is a rare condition of unknown frequency resulting from brain injury due to a multitude of causes; especially in early life. Characteristics include cerebral hemiatrophy/hypoplasi...

    Authors: Anna Misyail Abdul Rashid and Mohamad Syafeeq Faeez Md Noh

    Citation: BMC Neurology 2018 18:76

    Content type: Case report

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  23. Hopkins syndrome (HS) is a rare disorder presenting with acute flaccid paralysis of the limbs following an asthma attack. Neurologists encounter a diagnostic challenge if patients without a history of bronchia...

    Authors: Fumie Hayashi, Shintaro Hayashi, Dai Matsuse, Ryo Yamasaki, Keiji Yonekura and Jun-ichi Kira

    Citation: BMC Neurology 2018 18:71

    Content type: Case report

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  25. Motor outcomes of children with unilateral cerebral palsy are clearly documented and well understood, yet few studies describe the cognitive functioning in this population, and the associations between the two...

    Authors: Brian Hoare, Michael Ditchfield, Megan Thorley, Margaret Wallen, Jenny Bracken, Adrienne Harvey, Catherine Elliott, Iona Novak and Ali Crichton

    Citation: BMC Neurology 2018 18:63

    Content type: Study protocol

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  26. Pediatric autoimmune neuropsychiatric disorder after streptococcal infection (PANDAS) is a specific autoimmune response to group-A streptococcal infections in children and adolescents with a sudden onset of ob...

    Authors: A. H. Nave, P. Harmel, R. Buchert and L. Harms

    Citation: BMC Neurology 2018 18:60

    Content type: Case report

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  27. Acute autonomic neuropathy (AAN) is rare disorder with anecdotal report, especially for childhood onset patients. Misdiagnosis or delays in treatment can always be found in clinical practice. We conducted this...

    Authors: Ling-Yu Pang, Chang-Hong Ding, Yang-Yang Wang, Li-Ying Liu, Qiao-Jun Li and Li-Ping Zou

    Citation: BMC Neurology 2017 17:164

    Content type: Research article

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  28. Cerebral Palsy (CP) is the most common cause of motor disabilities in children and young adults and it is also often associated with cognitive and physiological challenges. Climbing requires a multifaceted rep...

    Authors: Mark Schram Christensen, Thor Jensen, Camilla B. Voigt, Jens Bo Nielsen and Jakob Lorentzen

    Citation: BMC Neurology 2017 17:112

    Content type: Research article

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  29. This qualitative study examined how individuals with Spinal Muscular Atrophy (SMA), their caregivers, and clinicians defined meaningful change, primarily in the Type II and non-ambulant type III patient popula...

    Authors: Sarah McGraw, Ying Qian, Jeff Henne, Jill Jarecki, Kenneth Hobby and Wei-Shi Yeh

    Citation: BMC Neurology 2017 17:68

    Content type: Research article

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  30. Wilson's disease with osseomuscular type is a rare condition, which often lacks typical hepatic and neurological symptoms and causes misdiagnoses easily. During the past 10 years, eight Chinese patients of ...

    Authors: Hao Yu, Juan-Juan Xie, Yu-Chao Chen, Qin-Yun Dong, Yi Dong, Wang Ni and Zhi-Ying Wu

    Citation: BMC Neurology 2017 17:34

    Content type: Research article

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  31. Kikuchi-Fujimoto disease is a self-limited clinicopathologic entity that is increasingly recognized worldwide. Kikuchi-Fujimoto disease is characterized by cervical lymphadenopathy occurring in young adults. N...

    Authors: Hidenori Kido, Osamu Kano, Asami Hamai, Hiroyuki Masuda, Yutaka Fuchinoue, Masaaki Nemoto, Chiaki Arai, Teppei Takeda, Fumihito Yamabe, Toshihiro Tai, Mizuki Kasahara, Kenichi Suzuki, Nobuyuki Shiraga, Sota Sadamoto, Megumi Wakayama, Yukitoshi Takahashi…

    Citation: BMC Neurology 2017 17:22

    Content type: Case report

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  32. Many aspects of pharmacological treatment of Lyme neuroborreliosis in children, such as choice of drug, dosage, and duration are subject to intense debates, leading to uncertainties in patients’ parents and he...

    Authors: Rick Dersch, Tilman Hottenrott, Stefanie Schmidt, Harriet Sommer, Hans-Iko Huppertz, Sebastian Rauer and Joerg J. Meerpohl

    Citation: BMC Neurology 2016 16:189

    Content type: Research article

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  33. As little is known of association(s) between gut microbiota profiles and host immunological markers, we explored these in children with and without multiple sclerosis (MS).

    Authors: Helen Tremlett, Douglas W. Fadrosh, Ali A. Faruqi, Janace Hart, Shelly Roalstad, Jennifer Graves, Collin M. Spencer, Susan V. Lynch, Scott S. Zamvil and Emmanuelle Waubant

    Citation: BMC Neurology 2016 16:182

    Content type: Research article

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  34. Stroke is a major complication of sickle cell anaemia (SCA). It occurs commonly in childhood with about 10 % of children with sickle cell anaemia getting affected by this complication. In Uganda, there is pauc...

    Authors: Deogratias Munube, Elly Katabira, Grace Ndeezi, Moses Joloba, Samden Lhatoo, Martha Sajatovic and James K. Tumwine

    Citation: BMC Neurology 2016 16:175

    Content type: Research article

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  35. Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that manifests recurrent attacks of hemiplegia, oculogyric, and choreoathetotic involuntary movements. De novo mutations in ATP1A3 cause t...

    Authors: Hikaru Kanemasa, Ryoko Fukai, Yasunari Sakai, Michiko Torio, Noriko Miyake, Sooyoung Lee, Hiroaki Ono, Satoshi Akamine, Kei Nishiyama, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Hirotomo Saitsu, Naomichi Matsumoto and Toshiro Hara

    Citation: BMC Neurology 2016 16:174

    Content type: Case report

    Published on:

  36. In children with bilateral cerebral palsy (CP) maintaining a standing position can be difficult. The fundamental motor task of standing independently is achieved by an interaction between the visual, somatosen...

    Authors: Cecilia Lidbeck, Åsa Bartonek, Priti Yadav, Kristina Tedroff, Per Åstrand, Kerstin Hellgren and Elena M. Gutierrez-Farewik

    Citation: BMC Neurology 2016 16:151

    Content type: Research article

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  37. Children and youth with non-traumatic brain injury (nTBI) are often overlooked in regard to the need for post-injury health services. This study provided population-based data on their burden on healthcare ser...

    Authors: Vincy Chan, Jason D. Pole, Michelle Keightley, Robert E. Mann and Angela Colantonio

    Citation: BMC Neurology 2016 16:110

    Content type: Research article

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  39. Robot assisted gait training (RAGT) is considered to be a promising approach for improving gait-related gross motor function of children and youth with cerebral palsy. However, RAGT has yet to be empirically d...

    Authors: Lesley Wiart, Rhonda J. Rosychuk and F. Virginia Wright

    Citation: BMC Neurology 2016 16:86

    Content type: Study protocol

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  40. Mutations in proteins involved in the glycosylphosphatidylinositol anchor biosynthesis and remodeling pathway are associated with autosomal recessive forms of intellectual disability. Recently mutations in the PG...

    Authors: Matthias Kettwig, Orly Elpeleg, Eike Wegener, Steffi Dreha-Kulaczewski, Marco Henneke, Jutta Gärtner and Peter Huppke

    Citation: BMC Neurology 2016 16:74

    Content type: Case report

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  41. Cerebral palsy (CP) is the main cause of severe physical impairment during childhood and has commonly shown oral motor association. It has been considered as the main cause of the high prevalence of problems i...

    Authors: Vanessa Vieira Pinto, Levy Anderson César Alves, Fausto M. Mendes and Ana Lídia Ciamponi

    Citation: BMC Neurology 2016 16:55

    Content type: Research article

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  42. Mutant rodent models have highlighted the importance of the ventricular ependymal cells and the subcommissural organ (a brain gland secreting glycoproteins into the cerebrospinal fluid) in the development of f...

    Authors: Eduardo Ortega, Rosa I. Muñoz, Nelly Luza, Francisco Guerra, Monserrat Guerra, Karin Vio, Roberto Henzi, Jaime Jaque, Sara Rodriguez, James P. McAllister and Esteban Rodriguez

    Citation: BMC Neurology 2016 16:45

    Content type: Case report

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  43. Previous studies have shown that the predictive control of movements is impaired in children with Developmental Coordination Disorder (DCD), most likely due to a deficit in the internal modeling of movements. ...

    Authors: Imke L. J. Adams, Bert Steenbergen, Jessica M. Lust and Bouwien C. M. Smits-Engelsman

    Citation: BMC Neurology 2016 16:5

    Content type: Study protocol

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  44. Home-based training is becoming ever more important with increasing demands on the public health systems. We investigated whether individualized and supervised interactive home-based training delivered through...

    Authors: Jakob Lorentzen, Line Z. Greve, Mette Kliim-Due, Betina Rasmussen, P. E. Bilde and Jens B. Nielsen

    Citation: BMC Neurology 2015 15:75

    Content type: Research article

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  46. Youth with spina bifida (SB) are less fit and active than other groups with childhood disability. While recent studies have shown benefits of exercise training, the increased fitness levels do not sustain or l...

    Authors: Manon AT Bloemen, Olaf Verschuren, Claudia van Mechelen, Hanneke E Borst, Arina J de Leeuw, Marsha van der Hoef and Janke F de Groot

    Citation: BMC Neurology 2015 15:11

    Content type: Research article

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  47. Minocycline, a member of the tetracycline family, has a low risk of adverse effects and an ability to improve behavioral performance in humans with cognitive disruption. We performed a single-arm open-label tr...

    Authors: Joseph C Grieco, Stephanie L Ciarlone, Maria Gieron-Korthals, Mike R Schoenberg, Amanda G Smith, Rex M Philpot, Helen S Heussler, Jessica L Banko and Edwin J Weeber

    Citation: BMC Neurology 2014 14:232

    Content type: Research article

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  48. Children with unilateral Cerebral Palsy (CP) often show diminished awareness of the remaining capacity of their affected upper limb. This phenomenon is known as Developmental Disregard (DD). DD has been explai...

    Authors: Ingar M Zielinski, Bert Steenbergen, C Marjolein Baas, Pauline BM Aarts and Marijtje LA Jongsma

    Citation: BMC Neurology 2014 14:221

    Content type: Research article

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  49. Cerebral palsy is the most common physical disability of childhood and early detection is possible using evidence based assessments. Systematic reviews indicate early intervention trials rarely demonstrate eff...

    Authors: Catherine Morgan, Iona Novak, Russell C Dale, Andrea Guzzetta and Nadia Badawi

    Citation: BMC Neurology 2014 14:203

    Content type: Study protocol

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  50. Cerebral palsy (CP) and brain injury (BI) are common conditions that have devastating effects on a child’s ability to use their hands. Hand splinting and task-specific training are two interventions that are o...

    Authors: Michelle Jackman, Iona Novak and Natasha Lannin

    Citation: BMC Neurology 2014 14:144

    Content type: Study protocol

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