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BMC Neuroscience May 2024Incontinentia pigmenti (IP) is a rare neuroectodermal dysplasia caused by a defect in the IKBKG gene. The pathogenesis of central nervous system injury is believed to be...
INTRODUCTION
Incontinentia pigmenti (IP) is a rare neuroectodermal dysplasia caused by a defect in the IKBKG gene. The pathogenesis of central nervous system injury is believed to be related to microvascular ischemia. Currently, few treatment strategies are available for the inflammatory phase.
MATERIALS AND METHODS
This retrospective descriptive analysis included the clinical data of 41 children with IP collected from 2007 to 2021 in Xi'an, China, comprising clinical characteristics, imaging findings, blood cell analysis, skin histopathology, and genetic data.
RESULTS
Fourteen children (34%) aged 4 days to 5 months exhibited clinical signs and symptoms, including convulsions, delayed psychomotor development following neurological damage, and revealed significant MRI abnormalities, including ischemia, hypoxia, cerebral hypoperfusion, hemorrhage, encephalomalacia, and cerebral atrophy. Eight of the 24 patients (33%) presented with retinal vascular tortuosity and telangiectasis, accompanied by neovascularization and hemorrhage. Thirty-eight children (93%) had elevated eosinophils (mean: 3.63 ± 4.46 × 10), and 28 children (68%) had significantly elevated platelets (mean: 420.16 ± 179.43 × 10). Histopathology of skin revealed microvascular extravasation and vasodilation with perivascular and intravascular eosinophilic infiltration.
CONCLUSION
Brain injury in IP occurs during infancy until 5 months of age, which is also the acute dermatitis phase accompanied by eosinophilia and an increased platelet count. This study provides evidence of microvascular damage to the skin and fundus during the inflammatory phase. The mechanism of microvascular damage may be similar to that in the brain.
Topics: Humans; Incontinentia Pigmenti; Infant; Female; Retrospective Studies; Male; China; Infant, Newborn; Magnetic Resonance Imaging; Brain; Child, Preschool; East Asian People
PubMed: 38773385
DOI: 10.1186/s12868-024-00872-1 -
Biomolecules Apr 2024Neonatal brain injury (NBI) is a critical condition for preterm neonates with potential long-term adverse neurodevelopmental outcomes. This prospective longitudinal...
Serum Neuron-Specific Enolase as a Biomarker of Neonatal Brain Injury-New Perspectives for the Identification of Preterm Neonates at High Risk for Severe Intraventricular Hemorrhage.
Neonatal brain injury (NBI) is a critical condition for preterm neonates with potential long-term adverse neurodevelopmental outcomes. This prospective longitudinal case-control study aimed at investigating the levels and prognostic value of serum neuron-specific enolase (NSE) during the first 3 days of life in preterm neonates (<34 weeks) that later developed brain injury in the form of either periventricular leukomalacia (PVL) or intraventricular hemorrhage (IVH) during their hospitalization. Participants were recruited from one neonatal intensive care unit, and on the basis of birth weight and gestational age, we matched each case ( = 29) with a neonate who had a normal head ultrasound scan ( = 29). We report that serum NSE levels during the first three days of life do not differ significantly between control and preterm neonates with NBI. Nevertheless, subgroup analysis revealed that neonates with IVH had significantly higher concentrations of serum NSE in comparison to controls and neonates with PVL on the third day of life ( = 0.014 and = 0.033, respectively). The same pattern on the levels of NSE on the third day of life was also observed between (a) neonates with IVH and all other neonates (PVL and control; = 0.003), (b) neonates with II-IV degree IVH and all other neonates ( = 0.003), and (c) between control and the five ( = 5) neonates that died from the case group ( = 0.023). We conclude that NSE could be an effective and useful biomarker on the third day of life for the identification of preterm neonates at high risk of developing severe forms of IVH.
Topics: Humans; Phosphopyruvate Hydratase; Infant, Newborn; Biomarkers; Infant, Premature; Male; Female; Case-Control Studies; Prospective Studies; Brain Injuries; Leukomalacia, Periventricular; Cerebral Hemorrhage; Cerebral Intraventricular Hemorrhage; Gestational Age; Prognosis
PubMed: 38672451
DOI: 10.3390/biom14040434 -
BMC Medical Imaging Apr 2024This study focused on analyzing the clinical value and effect of magnetic resonance imaging plus computed tomography (MRCT) and CT in the clinical diagnosis of cerebral... (Comparative Study)
Comparative Study
OBJECTIVE
This study focused on analyzing the clinical value and effect of magnetic resonance imaging plus computed tomography (MRCT) and CT in the clinical diagnosis of cerebral palsy in children.
METHODS
From February 2021 to April 2023, 94 children diagnosed with cerebral palsy were selected from our hospital for study subjects. These patients were divided into CT and MRI groups, with CT examination given to the CT group and MRI examination given to the MRI group. The positive rate of the two examination methods in the diagnosis of cerebral palsy was compared, different imaging signs in two groups of children with cerebral palsy were compared, and the diagnostic test typing results between two groups were further analyzed.
RESULTS
The diagnostic positivity rate of the children in the MRI group was 91.49%, which was significantly higher than that of the children in the CT group (70.21%) (P < 0.05). In both groups, encephalomalacia, bilateral frontal subdural effusions, and gray-white matter atrophy of the brain were the main signs, and the difference in the proportion of these three imaging signs between the two groups was not significant (P > 0.05). Differences between the two groups examined for cerebral palsy subtypes were not significant (P > 0.05).
CONCLUSION
The positive rate of pediatric cerebral palsy examined by MRI is higher than that of CT diagnosis, but the clinic should organically combine the two to further improve the detection validity and accuracy.
Topics: Humans; Tomography, X-Ray Computed; Magnetic Resonance Imaging; Male; Female; Cerebral Palsy; Child, Preschool; Child; Infant; Brain; Adolescent; Multimodal Imaging; Retrospective Studies
PubMed: 38664762
DOI: 10.1186/s12880-024-01273-w -
BioRxiv : the Preprint Server For... Mar 2024The pregnancy hormone, human chorionic gonadotropin (hCG) is an immunoregulatory and neurotrophic glycoprotein of potential clinical utility in the neonate at risk for...
Human chorionic gonadotropin decreases cerebral cystic encephalomalacia and parvalbumin interneuron degeneration in a pro-inflammatory model of mouse neonatal hypoxia-ischemia.
The pregnancy hormone, human chorionic gonadotropin (hCG) is an immunoregulatory and neurotrophic glycoprotein of potential clinical utility in the neonate at risk for cerebral injury. Despite its well-known role in its ability to modulate the innate immune response during pregnancy, hCG has not been demonstrated to affect the pro-degenerative actions of inflammation in neonatal hypoxia-ischemia (HI). Here we utilize a neonatal mouse model of mild HI combined with intraperitoneal administration of lipopolysaccharide (LPS) to evaluate the neuroprotective actions of hCG in the setting of endotoxin-mediated systemic inflammation. Intraperitoneal treatment of hCG shortly prior to LPS injection significantly decreased tissue loss and cystic degeneration in the hippocampal and cerebral cortex in the term-equivalent neonatal mouse exposed to mild HI. Noting that parvalbumin immunoreactive interneurons have been broadly implicated in neurodevelopmental disorders, it is notable that hCG significantly improved the injury-mediated reduction of these neurons in the cerebral cortex, striatum and hippocampus. The above findings were associated with a decrease in the amount of Iba1 immunoreactive microglia in most of these brain regions. These observations implicate hCG as an agent capable of improving the neurological morbidity associated with peripheral inflammation in the neonate affected by HI. Future preclinical studies should aim at demonstrating added neuroprotective benefit by hCG in the context of therapeutic hypothermia and further exploring the mechanisms responsible for this effect. This research is likely to advance the therapeutic role of gonadotropins as a treatment for neonates with neonatal brain injury.
PubMed: 38585735
DOI: 10.1101/2024.03.27.587006 -
Frontiers in Cellular and Infection... 2024To analyze the clinical epidemiological characteristics including clinical features, disease prognosis of pneumococcal meningitis (PM), and drug sensitivity of isolates...
OBJECTIVE
To analyze the clinical epidemiological characteristics including clinical features, disease prognosis of pneumococcal meningitis (PM), and drug sensitivity of isolates in Chinese children.
METHODS
A retrospective analysis was performed on the clinical, laboratory microbiological data of 160 hospitalized children less than 15 years of age with PM from January 2019 to December 2020 in 33 tertiary hospitals in China.
RESULTS
A total of 160 PM patients were diagnosed, including 103 males and 57 females The onset age was 15 days to 15 years old, and the median age was 1 year and 3 months. There were 137 cases (85.6%) in the 3 months to <5 years age group, especially in the 3 months to <3 years age group (109 cases, 68.2%); was isolated from cerebrospinal fluid (CSF) culture in 95(35.6%), and 57(35.6%) in blood culture. The positive rates of detection by CSF metagenomic next-generation sequencing (mNGS)and antigen detection method were 40.2% (35/87) and 26.9% (21/78). Fifty-five cases (34.4%) had one or more predisposing factors of bacterial meningitis; and 113 cases (70.6%) had one or more extracranial infection diseases Fever (147, 91.9%) was the most common clinical symptom, followed by vomiting (61, 38.1%) and altered mental status (47,29.4%). Among 160 children with PM, the main intracranial imaging complications were subdural effusion and (or) empyema in 43 cases (26.9%), hydrocephalus in 24 cases (15.0%), cerebral abscess in 23 cases (14.4%), intracranial hemorrhage in 8 cases (5.0%), and other cerebrovascular diseases in 13 cases (8.1%) including encephalomalacia, cerebral infarction, and encephalatrophy. Subdural effusion and (or) empyema and hydrocephalus mainly occurred in children < 1 years old (90.7% (39/43) and 83.3% (20/24), respectively). 17 cases with PM (39.5%) had more than one intracranial imaging abnormality. isolates were completely sensitive to vancomycin (100.0%, 75/75), linezolid (100.0%,56/56), ertapenem (6/6); highly sensitive to levofloxacin (81.5%, 22/27), moxifloxacin (14/17), rifampicin (96.2%, 25/26), and chloramphenicol (91.3%, 21/23); moderately sensitive to cefotaxime (56.1%, 23/41), meropenem (51.1%, 23/45) and ceftriaxone (63.5, 33/52); less sensitive to penicillin (19.6%, 27/138) and clindamycin (1/19); completely resistant to erythromycin (100.0%, 31/31). The cure and improvement rate were 22.5% (36/160)and 66.3% (106/160), respectively. 18 cases (11.3%) had an adverse outcome, including 6 cases withdrawing treatment therapy, 5 cases unhealed, 5 cases died, and 2 recurrences. was completely susceptible to vancomycin (100.0%, 75/75), linezolid (100.0%, 56/56), and ertapenem (6/6); susceptible to cefotaxime, meropenem, and ceftriaxone in the order of 56.1% (23/41), 51.1% (23/45), and 63.5 (33/52); completely resistant to erythromycin (100.0%, 31/31).
CONCLUSION
Pediatric PM is more common in children aged 3 months to < 3 years old. Intracranial complications mostly occur in children < 1 year of age with fever being the most common clinical manifestations and subdural effusion and (or) empyema and hydrocephalus being the most common complications, respectively. CSF non-culture methods can facilitate improving the detection rate of pathogenic bacteria. More than 10% of PM children had adverse outcomes. strains are susceptible to vancomycin, linezolid, ertapenem, levofloxacin, moxifloxacin, rifampicin, and chloramphenicol.
Topics: Adolescent; Child; Female; Humans; Infant; Male; Anti-Bacterial Agents; Cefotaxime; Ceftriaxone; Chloramphenicol; Empyema; Ertapenem; Erythromycin; Hydrocephalus; Levofloxacin; Linezolid; Meningitis, Bacterial; Meningitis, Pneumococcal; Meropenem; Microbial Sensitivity Tests; Moxifloxacin; Retrospective Studies; Rifampin; Subdural Effusion; Vancomycin; Infant, Newborn; Child, Preschool
PubMed: 38558854
DOI: 10.3389/fcimb.2024.1353433 -
Cureus Feb 2024Parieto-occipital encephalomalacia is a macroscopic appearance of the brain with loss of cerebral parenchyma associated with gliosis in the brain's anatomical...
Parieto-occipital encephalomalacia is a macroscopic appearance of the brain with loss of cerebral parenchyma associated with gliosis in the brain's anatomical structures. It occurs because of the liquefaction of brain parenchymal necrosis after cerebral ischemia, infection, and haemorrhages. It is often surrounded by glial cell proliferation in response to damage. Rehabilitation after the manifestation of neurological function must be tailored, and well-coordinated intervention must be formulated. We present a case study of a 77-year-old male with parieto-occipital encephalomalacia associated with genu varum deformity with a complaint of generalized weakness, vertigo, giddiness, and fall with one episode of a seizure attack. Further, bilateral genu varum deformity was noted on the knees. Encephalomalcia is associated with vitamin D deficiency. The physiotherapy rehabilitation consisted of resolving the symptoms of the patient, along with working on strengthening weak muscles of the genu varum deformity of the patient. The proprioceptive neuromuscular facilitation (PNF) method is a popular rehabilitation strategy for regaining motor function. Numerous outcome measures were used to monitor the patient's progress. Outcome measures such as the tone grading scale (TGS), motor assessment scale (MAS), dynamic gait index (DGI), Barthel index (BI), and world health-related quality-of-life (WHORQOL) scales were used. The rehabilitation lasted for six weeks. Tele-rehabilitation also plays a crucial impact in the recovery of patients. By the end of our rehabilitation, the patient significantly improved in performing activities of daily living and improved his quality of life. Tele-rehabilitation helped us stay connected with the patient.
PubMed: 38558677
DOI: 10.7759/cureus.55115 -
Indian Pediatrics May 2024We estimated the incidence of intraventricular hemorrhage (IVH) and/or periventricular leukomalacia/echogenicity (PVL/E) in Rhesus isoimmunized infants. Seventy-one... (Observational Study)
Observational Study
We estimated the incidence of intraventricular hemorrhage (IVH) and/or periventricular leukomalacia/echogenicity (PVL/E) in Rhesus isoimmunized infants. Seventy-one infants underwent cranial ultrasound within the first 3 days of life or discharge, whichever was earlier. Of these, 27 (38%) infants had IVH/ PVL/E. On multivariate analysis, lower gestational age (P = 0.035), small for gestational age [aOR (95% CI) 10.6 (1.9, 58.9)], and sepsis [aOR (95% CI) 4.5 (1.1, 18.4)] were independently associated with IVH/PVL.
Topics: Humans; Infant, Newborn; Prospective Studies; Male; Female; Leukomalacia, Periventricular; Erythroblastosis, Fetal; Rh Isoimmunization; Ultrasonography
PubMed: 38517007
DOI: No ID Found -
Scientific Reports Feb 2024Two Jack-Russell Terrier × Chihuahua mixed-breed littermates with Leigh syndrome were investigated. The dogs presented with progressive ataxia, dystonia, and increased...
Two Jack-Russell Terrier × Chihuahua mixed-breed littermates with Leigh syndrome were investigated. The dogs presented with progressive ataxia, dystonia, and increased lactate levels. Brain MRI showed characteristic bilateral symmetrical T2 hyperintense lesions, histologically representing encephalomalacia. Muscle histopathology revealed accumulation of mitochondria. Whole genome sequencing identified a missense variant in a gene associated with human Leigh syndrome, NDUFS7:c.535G > A or p.(Val179Met). The genotypes at the variant co-segregated with the phenotype in the investigated litter as expected for a monogenic autosomal recessive mode of inheritance. We investigated the functional consequences of the missense variant in a Drosophila melanogaster model by expressing recombinant wildtype or mutant canine NDUFS7 in a ubiquitous knockdown model of the fly ortholog ND-20. Neither of the investigated overexpression lines completely rescued the lethality upon knockdown of the endogenous ND-20. However, a partial rescue was found upon overexpression of wildtype NDUFS7, where pupal lethality was moved to later developmental stages, which was not seen upon canine mutant overexpression, thus providing additional evidence for the pathogenicity of the identified variant. Our results show the potential of the fruit fly as a model for canine disease allele validation and establish NDUFS7:p.(Val179Met) as causative variant for the investigated canine Leigh syndrome.
Topics: Animals; Dogs; Drosophila melanogaster; Dystonic Disorders; Leigh Disease; Mutation, Missense
PubMed: 38316835
DOI: 10.1038/s41598-024-53314-7 -
Child's Nervous System : ChNS :... Apr 2024Chiari malformations are a rare group of rhomboencephalic abnormalities involving the brain, craniocervical junction and spine. They may manifest in a variety of... (Review)
Review
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 neuropathic osteoarthropathy of the posterior calcaneal body and apophysis.
RESULT
The child was treated with decompressive suboccipital craniectomy and C1 laminectomy and tonsillar resection. Cerebellar tonsillar gliosis and cystic degeneration were confirmed on histopathology. Referral for ongoing engagement with occupational and physical therapy.
CONCLUSION
Most type I Chiari malformations in the paediatric population are incidental and asymptomatic. Neurological symptoms are typically mild and relate to altered CSF flow dynamics; however, we present a complex case of type I Chiari malformation with an unusual constellation of associated complications.
Topics: Child; Female; Humans; Heel; Arnold-Chiari Malformation; Syringomyelia; Cerebellum; Pain; Magnetic Resonance Imaging
PubMed: 38302572
DOI: 10.1007/s00381-024-06299-7 -
BMC Neurology Jan 2024Epilepsy contributes to high morbidity among children and adolescents in developing countries. A quarter of all children with epilepsy will be resistant to anti-seizure...
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 Muhimbili National Hospital (MNH), Dar es Salaam Tanzania.
METHODS
This cross-sectional study was conducted from June 2020 to June 2021. Children with epilepsies and who had been treated with ASMs for at least 3 months were eligible for inclusion. Exclusion criteria included children whose caregivers denied consent and those who exhibited acute medical conditions necessitating admission on the scheduled visit day. Data on demographic characteristics, perinatal history, detailed history of the seizures semiology, drug history, magnetic resonance imaging (MRI), and electroencephalography (EEG) results were obtained from caregivers and medical records available during recruitment. Seizures and epilepsies were classified using the 2017 International League Against Epilepsy (ILAE) classification. Logistic regression was used to determine factors associated with DRE.
RESULTS
A total of 236 children and adolescents aged between 4 months and 15 years (Median age 72 months (IQR = 42-78)) were enrolled in this study. We found the proportion of DRE to be 14.8% in this cohort. Of the thirty-five patients with DRE, 60% had generalized epilepsy and almost 25% had a diagnosis of an epilepsy syndrome, the most common being Lennox-Gastaut syndrome (LGS). Structural abnormalities on brain MRI were seen in almost 80% of all patients with DRE, the most prevalent being cystic encephalomalacia, which was observed in 34% of patients. Patients using both ASMs and alternative therapies accounted for 9% of this cohort. The onset of seizures during the first month of life (aOR = 1.99; 95%CI 1.7-4.6; p = 0.031) and high initial seizure frequency (aOR = 3.6; 95%CI 1.6-8;p = 0.002) were found to be independently associated with DRE.
CONCLUSION
The proportion of DRE in Tanzania is high. Patients with neonatal onset seizures and high initial seizure frequency should be followed up closely to ensure early diagnosis of DRE.
Topics: Child; Adolescent; Infant, Newborn; Humans; Drug Resistant Epilepsy; Cross-Sectional Studies; Tanzania; Epilepsy; Seizures
PubMed: 38166885
DOI: 10.1186/s12883-023-03508-9