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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. Headache and Attention Deficit Hyperactivity Disorder (ADHD) are two relatively common, neuropsychiatric conditions seen in children. Recent studies have shown an association between these two disorders, which...

    Authors: Udena Ruwindu Attygalle, Gemunu Hewawitharana and Champa Jayalakshmie Wijesinghe

    Citation: BMC Neurology 2020 20:275

    Content type: Research article

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  2. KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involveme...

    Authors: Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose Gelineau-Morel, Shimul Chowdhury and Jennifer Friedman

    Citation: BMC Neurology 2020 20:246

    Content type: Case report

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  3. Cerebral palsy (CP), which is the leading cause of motor disability during childhood, can produce sensory and cognitive impairments at different degrees. Most recent therapeutic interventions for these patient...

    Authors: Rodrigo Araneda, Stephane V. Sizonenko, Christopher J. Newman, Mickael Dinomais, Gregoire Le Gal, Daniela Ebner-Karestinos, Julie Paradis, Anne Klöcker, Geoffroy Saussez, Josselin Demas, Rodolphe Bailly, Sandra Bouvier, Emmanuel Nowak, Andrea Guzzetta, Inmaculada Riquelme, Sylvain Brochard…

    Citation: BMC Neurology 2020 20:243

    Content type: Study protocol

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  4. To our knowledge, the exposed nerve roots in thoracic spine are usually sacrificed to facilitate osteotomy during posterior vertebral column resection (PVCR) for severe spinal deformity. Currently we report a ...

    Authors: Shujie Wang, Zhifu Ren, Zhen Yang and Jianguo Zhang

    Citation: BMC Neurology 2020 20:203

    Content type: Case report

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  5. Perinatal asphyxia, more appropriately known as hypoxic-ischemic encephalopathy (HIE), is a condition characterized by clinical and laboratory evidence of acute or sub-acute brain injury resulting from systemi...

    Authors: Beatrice Ezenwa, Chinyere Ezeaka, Iretiola Fajolu, Anne Ogbenna, Omodele Olowoyeye, Obiyo Nwaiwu, Zainab Opoola and Gbenga Olorunfemi

    Citation: BMC Neurology 2020 20:171

    Content type: Study protocol

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  6. Short-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme involved in the second step of mitochondrial fatty acid β-oxidation. Mitochondrial diseases resulting from ECHS1 mutations ...

    Authors: Miaojuan Wu, Wenqi Gao, Zhifang Deng, Zhisheng Liu, Jiehui Ma, Han Xiao, Yu Xu and Dan Sun

    Citation: BMC Neurology 2020 20:165

    Content type: Case report

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  7. To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible for ...

    Authors: Rosaria Nardello, Giorgia Plicato, Giuseppe Donato Mangano, Elena Gennaro, Salvatore Mangano, Filippo Brighina, Vincenzo Raieli and Antonina Fontana

    Citation: BMC Neurology 2020 20:155

    Content type: Case report

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  8. Fragile X syndrome (FXS) is the most frequent cause of inherited intellectual disability and the most commonly identified monogenic cause of autism. Recent studies have shown that long-term pathological conseq...

    Authors: Anke Van Dijck, Susana Barbosa, Patricia Bermudez-Martin, Olfa Khalfallah, Cyprien Gilet, Emanuela Martinuzzi, Ellen Elinck, R. Frank Kooy, Nicolas Glaichenhaus and Laetitia Davidovic

    Citation: BMC Neurology 2020 20:138

    Content type: Research article

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  9. Cerebral palsy (CP) causes motor, cognitive and sensory impairment at different extents. Many recent rehabilitation developments (therapies) have focused solely on the upper extremities (UE), although the lowe...

    Authors: R. Araneda, S. V. Sizonenko, C. J. Newman, M. Dinomais, G. Le Gal, E. Nowak, A. Guzzetta, I. Riquelme, S. Brochard and Y. Bleyenheuft

    Citation: BMC Neurology 2020 20:133

    Content type: Study protocol

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  10. IncobotulinumtoxinA (Xeomin®) is a botulinum neurotoxin type A with established efficacy in the treatment of upper-limb spasticity in adults. This retrospective case series in a university hospital setting aim...

    Authors: Angel León-Valenzuela, Juan Sánchez Palacios and Rogelio del Pino Algarrada

    Citation: BMC Neurology 2020 20:126

    Content type: Research article

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  11. Cytokines are possible mediators of neuroinflammation and associated with adverse outcome in neonatal encephalopathy (NE). Our aim was to explore cytokine response in children with Neonatal Encephalopathy (NE)...

    Authors: Zunera Zareen, Tammy Strickland, Victoria Mc Eneaney, Lynne A. Kelly, Denise McDonald, Deirdre Sweetman and Eleanor J. Molloy

    Citation: BMC Neurology 2020 20:115

    Content type: Research article

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  12. The search for noninvasive biomarkers of neuroinflammation and neurodegeneration has focused on various neurological disorders, including epilepsy. We sought to determine whether α-synuclein and cytokines are ...

    Authors: Jieun Choi, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Sohee Oh, Eun Young Kim and Jeon-Soo Shin

    Citation: BMC Neurology 2020 20:85

    Content type: Research article

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  13. Primary microcephaly is defined as reduced occipital-frontal circumference noticeable before 36 weeks of gestation. Large amount of insults might lead to microcephaly including infections, hypoxia and genetic ...

    Authors: Vincent Picher-Martel, Yvan Labrie, Serge Rivest, Baiba Lace and Nicolas Chrestian

    Citation: BMC Neurology 2020 20:58

    Content type: Case report

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  14. Craniopharyngiomas are defined by the WHO as “benign” tumours, but their location and surgical treatment may be associated with major complications, one being chemical meningitis. Although rare, especially in ...

    Authors: Magdalena Chrościńska-Krawczyk, Ewa Zienkiewicz, Arkadiusz Podkowiński and Maria Klatka

    Citation: BMC Neurology 2020 20:56

    Content type: Case report

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  15. Autoimmune encephalitis is characterized by neuropsychiatric symptoms associated with brain inflammation. The differential is usually broad and Psychiatry often collaborates with Neurology in diagnostic clarif...

    Authors: Julia Shekunov, Caren J. Blacker, Jennifer L. Vande Voort, Jan-Mendelt Tillema, Paul E. Croarkin and Magdalena Romanowicz

    Citation: BMC Neurology 2020 20:44

    Content type: Case report

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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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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  47. 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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  48. 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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