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Journal articles on the topic 'Cystic encephalomalacia'

Author: Grafiati

Published: 5 June 2025

Last updated: 2 August 2025

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1

Pereira, Júlio Leonardo Barbosa, Lucas Alverne Freitas De Albuquerque, Gerival Vieira Junior, and Bruno Silva Costa. "Post Infectious Multicystic Encephalomalacia." JBNC - JORNAL BRASILEIRO DE NEUROCIRURGIA 25, no. 2 (2018): 144–46. http://dx.doi.org/10.22290/jbnc.v25i2.1103.

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The term multicystic encephalomalacia is used to describe the presence of necrosis areas that turn into cystic lesions inside the brain. It is usually seen in the first year of life. We describe a case of a newborn with a large occipital encephalocele surgically treated. He complicated with Staphylococcus aureus meningoencephalitis that was treated with Vancomycin. Control computed tomography twenty-four days after surgery showed significant multicystic encephalomalacia, which is a uncommonly rapid progression, since it usually takes months for a complete cystic degeneration. The pathophysiolo

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2

Caballero, P., L. Del Campo, and E. Ocón. "Cystic encephalomalacia in twin embolization syndrome." Radiology 178, no. 3 (1991): 892–93. http://dx.doi.org/10.1148/radiology.178.3.1994445.

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3

Gupta, R. K., C. S. Pant, A. Sharma, and A. Khalilullah. "Ultrasound diagnosis of multiple cystic encephalomalacia." Pediatric Radiology 18, no. 1 (1988): 6–8. http://dx.doi.org/10.1007/bf02395750.

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4

Gray, P. H., D. I. Tudehope, and J. Masel. "Cystic encephalomalacia and intrauterine herpes simplex virus infection." Pediatric Radiology 22, no. 7 (1992): 529–32. http://dx.doi.org/10.1007/bf02013003.

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5

Wong, Ryan K., Aziz A. Khanifar, Grace Sun, Linda A. Heier, Norman Saffra, and R. V. Paul Chan. "ACUTE RETINAL NECROSIS AND CYSTIC ENCEPHALOMALACIA IN A PREMATURE NEONATE." Retinal Cases & Brief Reports 4, no. 2 (2010): 202–5. http://dx.doi.org/10.1097/icb.0b013e3181ad3900.

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6

Al Gharaibeh, Faris, and Vivek Narendran. "Case 3: Cystic Encephalomalacia and Hyperpigmented Plaques in a Preterm Infant." NeoReviews 22, no. 2 (2021): e125-e128. http://dx.doi.org/10.1542/neo.22-2-e125.

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7

Elsayed, H., M. Ng, M. Rutherford, and R. Gupta. "Bilateral cystic encephalomalacia following multiple intrauterine transfusions for anti-Kell isoimmunisation." Case Reports 2015, mar31 1 (2015): bcr2013202750. http://dx.doi.org/10.1136/bcr-2013-202750.

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Miller, Derryl J., Jade Davis, Whitney Gervelis, Saurabh Singhal, and Susan Conrad. "Cytomegalovirus meningoencephalitis in an immunocompetent host with evolution of cystic encephalomalacia." Radiology Case Reports 20, no. 8 (2025): 3689–92. https://doi.org/10.1016/j.radcr.2025.04.053.

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9

Suresh, Kumar, Mamta, Poonia Rajendra, Bhandari Anu, and Mendiratta Kuldeep. "Cross Sectional Study of Diagnostic Contribution of Cerebral Magnetic Resonance Imaging and Cranial USG among Patients of Infantile Seizure in a Tertiary Care Centre in Western India." International Journal of Pharmaceutical and Clinical Research 15, no. 5 (2023): 1559–72. https://doi.org/10.5281/zenodo.12600809.

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<strong>Introduction and Importance of this Study: </strong>Seizures are caused by abnormally synchronous and excessive brain activity. The causes of seizures in infancy are mostly brain structure-related, like HIE, CNS malformations, brain haemorrhage, brain infarcts, CSVT etc. These conditions are diagnosed by pediatrician by clinically but require imaging for exact diagnosis. Currently cranial US and MRI are modality for these condition for diagnosis. This study was to compare the function of MRI in determining the cause of neonatal seizures to that of C-USG in the diagnosis and manage

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Anık, Ahmet, Ayşe Anık, Tolga Ünüvar, et al. "Cystic Encephalomalacia and Infantile Spasm as a Complication of Transient and Mild Hyperinsulinemic Hypoglycemia." Journal of Pediatric Research 3, no. 2 (2016): 129–32. http://dx.doi.org/10.4274/jpr.16878.

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11

Cerase, A., I. M. Vallone, A. Atesalp, A. Demirci, C. Venturi, and M. Vural. "Intracranial Aneurysm Associated with Perianeurysmal Fat Tissue Lesion and Parenchymal Cystic Changes." Rivista di Neuroradiologia 18, no. 5-6 (2005): 575–80. http://dx.doi.org/10.1177/197140090501800508.

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The purpose of this report is to describe the seven-year clinical and neuroradiological follow-up of a perianeurysmal fatty lesion and perianeurysmal parenchymal cystic changes accompanying an asymptomatic unruptured wide-neck saccular aneurysm of the right middle cerebral artery trifurcation incidentally discovered in a 27-year-old male. The possible mechanisms of development are discussed. Notably, the close anatomical association between the two malformative lesions should rule out an incidental coexistence. Possible explanations include i) congenital structural deficiency of the cerebral v

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12

Sass, Jörn Oliver, Aysegul Gunduz, Carolina Araujo Rodrigues Funayama, et al. "Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia." Brain and Development 32, no. 7 (2010): 544–49. http://dx.doi.org/10.1016/j.braindev.2009.09.005.

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13

Janzarik, Wibke, Peter Franck, Markus Hufnagel, Christopher Beck, Rudolf Korinthenberg, and Alexander Pschibul. "Cystic Encephalomalacia following Vasculopathy and Vasospasm of Proximal Intracranial Arteries Due to Pneumococcal Meningitis in a Infant." Neuropediatrics 49, no. 03 (2018): 213–16. http://dx.doi.org/10.1055/s-0038-1635075.

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AbstractDespite the availability of modern antibiotics, pneumococcal meningitis in both children and adults remains a severe disease—one known to frequently cause grave complications and residual disability. Although the appearance of arterial vasospasms in bacterial meningitis systematically has been investigated and reported on for adult patients, such research is lacking when it comes to infants. We report on a 4-week-old infant who, 6 days after onset of pneumococcal meningitis, suffered severe neurological deterioration with treatment-resistant seizures and coma. Generalized cortical and

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14

Tapadia, Shreya, Suresh Vasant Phatak, Harshith Gowda K.B, and Asish Pavanan. "Porencephalic Cyst in an Adult - A Rare Pathology." Journal of Evolution of Medical and Dental Sciences 10, no. 12 (2021): 918–19. http://dx.doi.org/10.14260/jemds/2021/198.

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Porencephalic cyst is a rare entity in adults with limited cases reported so far. It is usually congenital and seen in neonates. Here, we report a 25-year-old male who presented with post-ictal confusion following an episode of sudden onset of generalised tonic clonic seizure. He was diagnosed to have large cerebrospinal fluid (CSF) density cystic lesion in the right parieto-occipital region communicating with occipital horn on right side side of porencephaly. Porencephaly is an uncommon congenital disorder that occurs due to cystic degeneration and encephalomalacia leading to porencephalic cy

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15

Bou Ghannam, Alaa, Taeun Chang, Barbara A. Jantausch, Gilbert Vézina, and Marijean Miller. "Congenital Lymphocytic Choriomeningitis Virus in a Member of a Twin Pregnancy." Journal of Pediatric Neurology 15, no. 02 (2016): 076–79. http://dx.doi.org/10.1055/s-0036-1597654.

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AbstractWe report a male infant, twin A of a dichorionic pregnancy, with a fetal ultrasound and subsequent MRI at 29 weeks of gestation revealing a small cranium (26 cm, < 3rd percentile for gestation) and marked ex vacuo ventriculomegaly. Twin B had normal ultrasound and brain MRI. Newborn exam was unremarkable and his weight and head circumference were both at 5th percentile. Placental pathology findings included focal acute vasculitis and chronic villitis. Postnatal brain MRI showed significant cerebral volume loss with extensive large cystic parietal encephalomalacia and diffuse cerebra

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Pereira, Carlos Umberto, André Fabiano De Carvalho, Nicollas Nunes Rabelo, Gabriela Ferreira Kalkmann, Letícia Novak Crestani, and Letícia Adrielle dos Santos. "White Cerebellum Sign: case series and literature review." Archives of Pediatric Neurosurgery 2, no. 3(September-December) (2020): e512020. http://dx.doi.org/10.46900/apn.v2i3(september-december).51.

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Introduction: The white cerebellum sign is a rare radiological finding, seen in severe traumatic brain injury and severe hypoxia. Radiologically, it is characterized by cerebellar hyperdensity, associated with diffuse cerebral hemispheres hypoattenuation. This paper aims to guide the white cerebellum sign diagnosis in traumatic craniocerebral injuries or not in pediatric patients. Patients and Methods: The authors present a series of five cases that showed the white cerebellum sign from the period about 2007 and 2010, associated with a literature review. Results: The white cerebellum sign was

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17

Chin, Ein Wan, Liang Chye Goh, and Aun Wee Chong. "The Diagnostic Challenge of Distinguishing Temporal Lobe Encephaloceles from Sphenoid Sinus Mucoceles." Sumatera Medical Journal 7, no. 1 (2024): 55–59. http://dx.doi.org/10.32734/sumej.v7i1.14299.

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Introduction: Temporal lobe encephaloceles are rare malformations defined as brain parenchyma herniation through a skull base structural defect into adjacent structure such as sphenoid sinus, while sphenoid sinus mucoceles are expansive cystic lesions caused by mucus buildup and thinning of the sinus wall, mostly involving the frontal and ethmoid sinus. Both illnesses may present similar clinical symptoms, such as neurological symptoms, nasal and ophthalmologic symptoms. However, misdiagnosis of temporal lobe encephaloceles can have significant clinical implications, as the best treatment plan

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18

Kang, Zhi-Lin, Keson Tay, and Poh-Heng Chong. "Should Clinically Assisted Hydration and Nutrition Ever Be Withdrawn for a Neonate with a Chronic Non-Progressive Neurological Condition? A Case Study." Children 12, no. 3 (2025): 287. https://doi.org/10.3390/children12030287.

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Background: For infants, withholding or withdrawal of feeding is ethically permissible when the child is imminently dying or chronically and irreversibly comatose. It can also be appropriate in cases of medical futility with a low chance of survival. However, there is much contention in situations where the medical prognosis is uncertain. Case presentation: Annie is a 6-week-old neonate with antenatally acquired cystic encephalomalacia, a chronic non-progressive neurological condition. Her future neurological outcome is uncertain. She is putting on weight in the NICU with stable cardiorespirat

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19

Gill, James R., Raffaella A. Morotti, Vincent Tranchida, Jacquelyn Morhaime, and Hernando Mena. "Delayed Homicides Due to Infant Head Injury Initially Reported as Natural (Cerebral Palsy) Deaths." Pediatric and Developmental Pathology 11, no. 1 (2008): 39–45. http://dx.doi.org/10.2350/07-02-0236.1.

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A spectrum of neuropathology occurs in infants who sustain traumatic brain injury. Because of a prolonged survival interval, there is a risk that these deaths may not be recognized as a sequel of trauma. We reviewed the records in New York City of 5 delayed fatalities due to nonaccidental infant head injury that had survival intervals from 2.5 to 17 years. The head injuries occurred at 2 to 3 months of age, and death occurred at 2.5 to 17 years of age. Initially, they were reported as natural deaths by treating physicians, families, and/or police. All 5 infants had unexplained or poorly explai

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20

Moon, Seok Woo, and Taeho Kim. "Cerebral Paragonimiasis Presenting with Dementia." Korean Journal of Parasitology 60, no. 5 (2022): 353–55. http://dx.doi.org/10.3347/kjp.2022.60.5.353.

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We report a case of an 80-year-old Korean man with chronic cerebral paragonimiasis who presented with progressive memory impairment. He suffered from pulmonary paragonimiasis 60 years ago and has been experiencing epilepsy since the age of 45. He began experiencing memory and cognitive deterioration 3 years ago. He visited the neuropsychiatric department of our hospital to check his symptoms and health from a year ago. Contrast-enhanced brain magnetic resonance imaging study revealed calcifications and cystic lesions encompassing the right temporo-occipital region. Encephalomalatic changes wer

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21

Fan, Lijuan, Lianying Feng, Jing Gan, Rong Luo, Haibo Qu, and Xiaolu Chen. "Clinical characteristics of cystic encephalomalacia in children." Frontiers in Pediatrics 12 (May 22, 2024). http://dx.doi.org/10.3389/fped.2024.1280489.

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PurposeTo investigate the primary causes and clinical characteristics of cystic encephalomalacia (CE) in children.MethodsThe clinical data of 50 children who were admitted to our hospital due to CE between January 2008 and December 2020 were retrospectively reviewed. Their primary causes, clinical manifestations and cranial magnetic resonance imaging features were analyzed.ResultsAmong all patients, 5 had prematurity, 19 had hypoxic-ischemic encephalopathy (HIE), 13 had intracranial infection, 14 had traumatic brain injury and hemorrhage, 4 had cerebral infarction, 2 had congenital genetic dis

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22

Khan, Naheed. "Incidental Cystic Encephalomalacia from a Silent Cerebral Infarct." Open access Journal of Neurology & Neurosurgery 4, no. 2 (2017). http://dx.doi.org/10.19080/oajnn.2017.04.555635.

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23

A., Ebinesh, Alpana Manchanda, Prerana Saraswat, Dheeman Futela, and Ajay Kumar. "Cystic Neuronal Necrosis of Posterior Thalami in Neonatal Hypoxic Ischemic Encephalopathy: A Case Report of an Unusual Radiological Finding." Journal of Neonatology, May 24, 2022, 097321792211004. http://dx.doi.org/10.1177/09732179221100473.

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Background: Neonatal hypoxic ischemic encephalopathy (HIE) occurs as a result of any event that causes hypoxia and hypoperfusion to the developing neonatal brain. In addition to being a major cause of neonatal mortality, it is also associated with significant long-term neurological deficits. Multicystic encephalomalacia is a sequelae to global hypoxic ischemic injury which is characterized by cortical atrophy, basal ganglia/thalamic atrophy, and cystic necrosis of cerebral white matter. In this report, we present an unusual finding of cystic necrosis of thalami in HIE. Case Presentation: We pr

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Alkhulaifat, Dana, Shyam Sunder B. Venkatakrishna, César Augusto Pinheiro Ferreira Alves, et al. "Distinguishing multicystic from focal encephalomalacia on delayed MRI in children with term hypoxic ischemic injury." Journal of Neuroimaging, January 12, 2024. http://dx.doi.org/10.1111/jon.13190.

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AbstractBackground and PurposeTo define cystic patterns resulting from term hypoxic ischemic injury (HII) on delayed Magnetic Resonance Imaging (MRI) and determine associated HII patterns and lesions that reflect the severity of injury, from a database of African children with cerebral palsy.MethodsRetrospective review of 1175 children with cerebral palsy due to term HII diagnosed on late MRI, identifying those with cystic changes. These were classified as multicystic or (multi‐) focal‐cystic, and were evaluated for associated injuries—thalami, basal ganglia, hippocampi, cerebellum, and presen

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Rasuli, Bahman. "Multicystic encephalomalacia following intrauterine single fetal death in second-trimester and subsequent fetofetal transfusion syndrome in monochorionic twin pregnancy: A case report." Journal of Clinical Images and Medical Case Reports 4, no. 7 (2023). http://dx.doi.org/10.52768/2766-7820/2503.

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Multicystic encephalomalacia is a condition of cerebral necrosis followed by the formation of cystic lesions of varying sized starting from the periventricular area and may extending to the cerebral cortex. This disorder may happens in surviving cotwins after the second and third-trimester intrauterine fetal death of one twin in monochorionic pregnancies.

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Kurukumbi, Mohankumar, Mansoor Nasim, Dulara Hussain, Roger Weir, and Annapurni Jayam‐Trouth. "Intraventricular Meningioma and Post surgical Cystic Encephalomalacia : a Case Report." FASEB Journal 23, S1 (2009). http://dx.doi.org/10.1096/fasebj.23.1_supplement.740.12.

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27

Lucas, Nadja, Gregor Dückers, Carsten Speckmann, et al. "NAXD Deficiency Associated with Perinatal Autoinflammation, Pancytopenia, Dermatitis, Colitis, and Cystic Encephalomalacia." Journal of Pediatric Neurology, July 20, 2020. http://dx.doi.org/10.1055/s-0040-1713682.

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AbstractNAD(P)HX dehydratase (NAXD) catalyzes the recovery of toxic derivatives of nicotinamide adenine dinucleotides which play an essential role in mitochondrial metabolism. Mutations in NAXD were recently shown to cause early-onset neurodegeneration exacerbated by febrile illness. Here, we report a novel homozygous stop-gain variant in NAXD in an infant who presented with a fulminant course of autoinflammation, dermatitis, colitis, and cystic encephalomalacia beginning at 3 weeks of age. Our findings support the central role of NAXD-mediated metabolite repair for normal tissue function and

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Shah, Dipti A., and Vaishali Sanghrajka. "A Rare Case Report: Imaging Features of Cystic encephalomalacia of Infancy following Antenatally Detected Intraparenchymal and Intraventricular Hemorrhage." International Journal of Contemporary Medicine, Surgery and Radiology 4, no. 4 (2019). http://dx.doi.org/10.21276/ijcmsr.2019.4.4.25.

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Henderson, Robert, Rahul Lakshmanan, Aden McLaughlin, Omar Bangash, Snigdha Saha, and Richard Carey-Smith. "A complicated Chiari type 1 malformation and holocord syrinx as a likely cause for heel pain." Child's Nervous System, February 1, 2024. http://dx.doi.org/10.1007/s00381-024-06299-7.

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Abstract Background Chiari malformations are a rare group of rhomboencephalic abnormalities involving the brain, craniocervical junction and spine. They may manifest in a variety of clinical presentations which relate to the variable involvement of the cerebellum, brainstem, lower cranial nerves, spinal cord and altered CSF flow dynamics. Method We report an unusual case of incidental diagnosis of a type I Chiari malformation with secondary cystic cerebellar tonsillar encephalomalacia and holocord syrinx following investigation of a 5YO girl presenting with heel swelling related to progressive

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30

"Congenital Externally Communicating Porencephaly Presenting as Hemiplegic Cerebral Palsy: Imaging Study of a Rare Condition." SunKrist Journal of Neonatology and Pediatrics, January 18, 2021, 1–4. http://dx.doi.org/10.46940/sjnp.03.1013.

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Congenital porencephaly is a very rare condition characterized by cystic degeneration encephalomalacia and cysts or cavities within the brain. Porencephalic cysts have a variable size and site and therefore it result in a variable clinical presentations including asymptomatic, various forms of cerebral palsy, seizures and cognitive impairment. The disorder is heterogeneous in nature and the brain lesions can be caused by developmental abnormalities, infection, perinatal brain ischemia, trauma and hemorrhage. Genetic factors have been suggested and familial cases have been reported. Congenital

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Chang, Cheng-Hsun, Hung-Wei Lian, and Yueh-Feng Sung. "Cystic Encephalomalacia in a Young Woman After Cardiac Arrest Due to Diabetic Ketoacidosis and Thyroid Storm." Cureus, March 31, 2022. http://dx.doi.org/10.7759/cureus.23707.

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Smitka, M., J. Schallner, K. Brocke, G. Hahn, M. von der Hagen та A. Hübner. "Case report of a 1-year old girl with β-ureidopropionase deficiency and development of cystic encephalomalacia". Neuropediatrics 41, № 02 (2010). http://dx.doi.org/10.1055/s-0030-1265551.

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Tabarani, Christy, Alex Deyanov, Gloria P. Heresi, et al. "Paenibacillus dendritiformis Meningitis, Brain Abscesses and Cystic Encephalomalacia in An Infant: Case Presentation and Review of the Literature." Pediatric Infectious Disease Journal Publish Ahead of Print (August 31, 2022). http://dx.doi.org/10.1097/inf.0000000000003684.

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Tian, Qi, Yang Cao, Li Shu, et al. "Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency." Frontiers in Genetics 12 (April 8, 2021). http://dx.doi.org/10.3389/fgene.2021.651878.

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Background: The molybdenum cofactor (Moco) deficiency in humans results in the inactivity of molybdenum-dependent enzymes and is caused by pathogenic variants in MOCS1 (Molybdenum cofactor synthesis 1), MOCS2 (Molybdenum cofactor synthesis 2), and GPHN (Gephyrin). These genes along with MOCS3 (Molybdenum cofactor synthesis 3) are involved in Moco biosynthesis and providing cofactors to Moco-dependent enzymes. Until now, there was no study to confirm that MOCS3 is a causative gene of Moco deficiency.Methods: Detailed clinical information was collected in the pedigree. The Whole-exome sequencing

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Smith, Danielle, Kristen Bastug, Kathy Burgoine, et al. "A Systematic Review of Human Paenibacillus Infections and Comparison of Adult and Pediatric Cases." Pediatric Infectious Disease Journal, December 18, 2024. https://doi.org/10.1097/inf.0000000000004668.

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Background: Neonatal infections due to Paenibacillus species have increasingly been reported over the last few years. Methods: We performed a structured literature review of human Paenibacillus infections in pediatric and adult patients to compare the epidemiology of infections between these distinct patient populations. Results: Forty reports describing 177 infections were included. Two additional cases were brought to our attention by colleagues. There were 38 Paenibacillus infections occurring in adults caused by 23 species. The clinical presentations of infections were quite variable. In c

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Abdel‐Hamid, Mohamed S., Ghada M. H. Abdel‐Salam, Sherif F. Abdel‐Ghafar, and Maha S. Zaki. "Delineating the phenotype of PNPLA8‐related mitochondriopathies." Clinical Genetics, September 6, 2023. http://dx.doi.org/10.1111/cge.14421.

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AbstractPathogenic variants in PNPLA8 have been described either with congenital onset displaying congenital microcephaly, early onset epileptic encephalopathy and early lethality or childhood neurodegeneration with progressive microcephaly. Moreover, a phenotype comprising adulthood onset cerebellar ataxia and peripheral neuropathy was also reported. To our knowledge, only six patients with biallelic variants in PNPLA8 have been reported so far. Here, we report the clinical and molecular characterizations of three additional patients in whom exome sequencing identified a loss of function vari

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Brady, Lauren, Rashmi Yadav, Andrew C. Edmondson, and Mark Tarnopolsky. "Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect‐1 (GPIBD1)." American Journal of Medical Genetics Part A, August 9, 2024. http://dx.doi.org/10.1002/ajmg.a.63833.

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AbstractGlycosylphosphatidylinositols (GPIs) are a type of glycolipid responsible for anchoring many important proteins to the cell membrane surface. Defects in the synthesis of GPIs can lead to a group of multisystem disorders known as the inherited GPI deficiencies (IGDs). Homozygosity for the c.‐270C > G variant in the promoter of PIGM has been associated with a IGD subtype known as glycosylphosphatidylinositol biosynthesis defect‐1 (GPIBD1). The several cases reported in the literature have been described to have a milder neurologic phenotype in comparison to the other IGDs and have bee

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Lee, Hsiu-Fen, Chia-Chi Hsu, Ching-Shiang Chi, and Chi-Ren Tsai. "Genotype-Phenotype Dissociation in Two Taiwanese Children with Molybdenum Cofactor Deficiency Caused by MOCS2 Mutation." Neuropediatrics, October 21, 2021. http://dx.doi.org/10.1055/s-0041-1736181.

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Abstract Background To describe the genotype-phenotype dissociation in two Taiwanese patients with molybdenum cofactor deficiency (MoCoD) caused by MOCS2 gene mutations. Patient Description Patient 1 exhibited early-onset neurological symptoms soon after birth, followed by subsequent myoclonic seizures and movement disorder. The brain magnetic resonance imaging (MRI) showed diffuse brain injury with cystic encephalomalacia along with bilateral globus pallidi involvement, hypoplasia of corpus callosum, and cerebellar atrophy. Patient 2 had a mild phenotype with prominent movement disorder after

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Gudipati, Mary A., Elizabeth Waters, Carol Greene, et al. "Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis." Molecular Cytogenetics 12, no. 1 (2019). http://dx.doi.org/10.1186/s13039-019-0455-z.

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Abstract Background Chromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly complex chromosomal rearrangements derived from ‘all-at-once’ catastrophic cellular events. The complexity of these rearrangements and the original descriptions in cancer cells initially led to the assumption that it was an acquired anomaly. While rare, these phenomena involving chromosome 1 have been reported a few individuals in a constitutional setting. Case presentation Here, we describe a newborn baby who was initially referred for

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40

Nóbrega, Paulo Ribeiro, Francisco Bruno Santana da Costa, Pedro Gustavo Barros Rodrigues, et al. "Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia—Occam’s razor or Hickam’s dictum: a case report." BMC Neurology 22, no. 1 (2022). http://dx.doi.org/10.1186/s12883-022-02912-x.

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Abstract Background Turner syndrome (TS) is a rare condition associated with a completely or partially missing X chromosome that affects 1 in 2500 girls. TS increases the risk of autoimmune diseases, including Graves’ disease (GD). Moyamoya disease is a rare cerebral arteriopathy of unknown etiology characterized by progressive bilateral stenosis of the internal carotid artery and its branches. Both TS and GD have been associated with Moyamoya. Type 2 spinocerebellar ataxia (SCA2) is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in ATXN2. We present the first case of

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Sreeharsha, Damam, RJ Meshram, and Amar Taksande. "Chronic Subdural Hygromas, Cerebral Atrophy, and Developmental Delay Following Paediatric Traumatic Brain Injury: A Case Report." JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, July 1, 2025. https://doi.org/10.7860/jcdr/2025/76583.21203.

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Traumatic Brain Injury (TBI) contributes significantly to the burden on healthcare systems. The variability in patient profiles and injury mechanisms complicates prevention, diagnosis and treatment, limiting advancements in the field. Although imaging modalities like Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) are essential in the diagnosis of TBI, they may miss subtle lesions. Children with TBI are at a high-risk of long-term neurological sequelae and these include seizures and developmental delays. This case report presents a six-year-old male child, fifth of birth order bo

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Benny, Merline, Emmalee S. Bandstra, Ali G. Saad, et al. "Maternal SARS-CoV-2, Placental Changes and Brain Injury in 2 Neonates." Pediatrics, April 6, 2023. http://dx.doi.org/10.1542/peds.2022-058271.

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Long-term neurodevelopmental sequelae are a potential concern in neonates following in utero exposure to severe acute respiratory syndrome coronavirus disease 2 (SARS-CoV-2). We report 2 neonates born to SARS-CoV-2 positive mothers, who displayed early-onset (day 1) seizures, acquired microcephaly, and significant developmental delay over time. Sequential MRI s howed severe parenchymal atrophy and cystic encephalomalacia. At birth, neither infant was SARS-CoV-2 positive (nasopharyngeal swab, reverse transcription polymerase chain reaction), but both had detectable SARS-CoV-2 antibodies and inc

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Samia, Pauline, Arwen Barr, Subira B. Levi, Kirsten A. Donald, Jo M. Wilmshurst, and Charles R. Newton. "Clinical characteristics of children with epilepsy managed at an urban hospital in Africa: a retrospective study." Journal of the International Child Neurology Association, December 28, 2019. http://dx.doi.org/10.17724/jicna.2019.162.

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Background Most children with epilepsy reside in resource-limited regions such as sub-Saharan Africa, where the majority of studies have been conducted in rural areas with limited investigations. Medical records from children with epilepsy seen at an urban hospital in Kenya were examined to provide a comprehensive description of epilepsy in children from this hospital.  Methods A retrospective observational study was conducted which involved reviewing medical records of 426 epilepsy patients (260 males and 166 females) aged 0 - 18 years, seen at Aga Khan University Hosp

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Urio, Obrey H., Edward Kija, Sarah Weckhuysen, Hilda Makungu, and Helga Naburi. "Drug resistant epilepsy and associated factors among children with epilepsies in tanzania: a cross-sectional study." BMC Neurology 24, no. 1 (2024). http://dx.doi.org/10.1186/s12883-023-03508-9.

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Abstract Background Epilepsy contributes to high morbidity among children and adolescents in developing countries. A quarter of all children with epilepsy will be resistant to anti-seizure medications (ASMs), with associated neurocognitive impairments and risk of higher mortality. This study aimed to estimate and characterize drug-resistant epilepsy (DRE) (defined as failure to achieve sustained remission after adequate trials of two tolerated and appropriately chosen ASMs) and its associated factors among children and adolescents with epilepsies attending the pediatric neurology clinic at Muh

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PARÇA, Nurullah, İsmail ATAŞ, Ali ÇELİK, and Özlem BİLİR. "AN UNCOMMON PRESENTATION OF SEPTUM PELLUCIDUM ANATOMICAL VARIATIONS: A CASE REPORT OF GENERALIZED TONIC-CLONIC SEIZURE IN A HEALTHY ADULT." Journal of Emergency Medicine Case Reports, February 11, 2024. http://dx.doi.org/10.33706/jemcr.1421495.

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ABSTRACT: Introduction: The septum pellucidum (SP) is a thin, transparent, dual-membrane structure located between the lateral ventricles of the brain. Incidentally identified through imaging modalities, this variation, while rare, may manifest with symptoms such as neuropsychiatric disorders, headache, dizziness, seizures, nausea, and vomiting. In this report, we present the case of a healthy middle-aged man with CV and CSP, who sought medical attention in the emergency department (ED) due to a generalized tonic-clonic seizure (GTCS). Case Report: A 40-year-old male without any kn

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