Encephalomalacia

OBJECTIVES: Infantile spasm (IS) is an epileptic encephalopathy with ongoing neurological damage due to seizures and epileptiform abnormalities. Epilepsy surgery is considered for children refractory to drug therapy, especially when there is a focal brain lesion. In this study, we investigated the feasibility and efficacy of intraventricular stereotactic electroencephalography (SEEG) and laser ablation for the treatment of IS children with focal brain lesions. METHODS: We performed the first reported study using ventriculoscopic laser ablation to treat IS...

BACKGROUND: Dyskinesia is a movement disorder categorized by involuntary movement of muscle. Although dyskinesia can be brought on by taking medications, it can also be a symptom of a variety of diseases. Antiepileptic drug-induced involuntary movements have been well researched. Rare reports have been made for dyskinesia, a type of dystonia caused by phenytoin. The mechanism of its occurrence must be succinctly studied. CASE PRESENTATION: A 53-year-old Asian patient taking phenytoin (100 mg twice daily) experienced symptoms of perioral muscle involuntary movement, impaired speech, and generalized tremors and was admitted to the hospital...

Suleiman-El-Hattab syndrome (SULEHS, OMIM #618950) is an autosomal recessive multisystem developmental disorder characterized by distinctive facial appearance, global developmental delay/intellectual disability, poor expressive speech and happy demeanor. SULEHS is an ultra-rare disorder associated with biallelic loss-of-function variants of the TASP1 gene, and up-to-date, seven patients from five families have been reported in the literature. Loss of TASP1 function has been reported to alter H3K4 histone modifications and expression of TFIIA and HOX transcription factors in the SULEHS phenotype...

OBJECTIVE: To simplify the electroencephalogram (EEG) diagnosis and guide the treatment of electrical status epilepticus during sleep (ESES). METHODS: We recruited 54 children with ESES from December 2019 to December 2020 and compared various spike-wave index (SWI) calculation methods. Time-frequency analysis assessed the correlation between high-frequency oscillations energy and the SWI. We divided 42 children into responder and non-responder treatment groups based on the observations made during a 12-month follow-up period and evaluate different treatment and the independent risk factors of refractory ESES...

Molybdenum cofactor deficiency (MoCD) is a rare and severe autosomal recessive in-born error of metabolism caused by the mutation in MOCS1, MOCS2, MOCS3 or GEPH genes, with an incidence ranging between 1 in 100,000 and 200,000 live births. The clinical presentation with seizures, lethargy and neurologic deficits reflects the neurotoxicity mediated via sulphite accumulation, and it occurs within the first hours or days after birth, often leading to severe neurodegeneration and the patient's death within days or months...

We report the case of a boy (aged 3 years and 7 months) with severe growth failure (length: -9.53 SDS; weight: -9.36 SDS), microcephaly, intellectual disability, distinctive craniofacial features, multiple skeletal anomalies, micropenis, cryptorchidism, generalized hypotonia, and tendon retraction. Abdominal US showed bilateral increased echogenicity of the kidneys, with poor corticomedullary differentiation, and a slightly enlarged liver with diffuse irregular echotexture. Initial MRI of the brain, performed at presentation, showed areas of gliosis with encephalomalacia and diffused hypo/delayed myelination, and a thinned appearance of the middle and anterior cerebral arteries...

Sulfite oxidase deficiency (SOD) and related disorders, especially molybdenum cofactor deficiency (MoCD), are a group of rare and severe neurometabolic disorders caused by gene mutations that affect the sulfur-containing amino acid catabolic pathway. These disorders are characterized by distinctive neuroimaging features such as diffuse cerebral atrophy, multicystic encephalomalacia, and ventriculomegaly in early infancy. These features are essential for early diagnosis and treatment. Moreover, the genetics of these disorders are complex but have been increasingly elucidated in the era of molecular medicine...

BACKGROUND: Accurate diagnosis of efferent visual system disease in neuro-ophthalmology involves the classification of clinical signs as prenuclear, nuclear, or infranuclear in origin. Over many years, I have come to recognize ocular torsional instability as a clinical sign of prenuclear disease. METHODS: Retrospective chart review of patients in whom ocular torsional instability was diagnosed using indirect ophthalmoscopy. RESULTS: Twenty patients were diagnosed as having ocular torsional instability (OTI)...

The first author was a left-handed, 51-year-old nephrologist who experienced a neurologic event. She underwent neurosurgery complicated by hemorrhage. Post-operatively, she developed persistent vertigo and unilateral tongue pain which persisted for over five years. Early neuroimaging revealed expected encephalomalacia but no neuroanatomical basis for my symptoms. A functional neurological disorder was suspected, and she was seen by several psychiatrists and psychotherapists. However, she suspected a neuroanatomical lesion would better explain her unrelenting symptoms...

INTRODUCTION: Here we present a case of Depersonalisation-Derealisation Disorder which involves an unusual environmental trigger and profile of symptoms in a patient with an underlying left frontal encephalomalacia. METHODS: The clinical information has been collected from multiple neurological, psychiatric, neuropsychological examinations and from the patient's medical records. RESULTS: The neuropsychiatric assessment showed depersonalisation, derealisation, de-somatisation and de-affectualisation, along with a good response to SSRI + Lamotrigine; all typical features of DPD...

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 showed 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 increased blood inflammatory markers...

BACKGROUND: National institutes of health stroke scale (NIHSS) is used, since its appearance in analysis of stroke in any national or international single center or multicenter study. It is also the golden standard assessment scale for stroke patients whether by emergency medical services on the way to hospital or by emergency room staff and by neurologists whether juniors or senior consultants. Yet, it is not capable of identifying all stroke cases. Along the current case report a relatively rare case of cortical deafness is presented highlighting its rarity and its vascular mechanism as well as how defective is NIHSS in recognizing it...

Postictal psychosis (PIP) is one of the most common types of psychosis in epileptic patients. By virtue of the paucity of research on PIP, its pathophysiology remains not completely understood. Our case report describes a clinical picture of PIP, characterized by pleomorphic features, with neither Schneider's first - rank symptoms nor negative symptoms of schizophrenia, in a longstanding epileptic female patient with a history of nonadherence to antiepileptic treatment and poorly controlled seizures. Additionally, she had previous cognitive impairment and encephalomalacia in the right parietooccipital region as a sequela of a moderate-to-severe traumatic brain injury known to precede the emergence of the epilepsy...

[This corrects the article DOI: 10.3389/fped.2022.1066114.].

Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes. At present, most published studies have focused on the types of gene mutations associated with NDM and the therapeutic effect of sulfonylureas (SUs) on the disease; few studies on NDM-associated intracranial hemorrhage (ICH) exist. In addition, p.V59M mutations generally lead to intermediate DEND (iDEND: intermediate developmental delay and neonatal diabetes) syndrome without epilepsy. Here, we present a case of a 1-month-old male infant who was diagnosed with NDM caused by a KCNJ11 missense mutation (p...

Here, we performed molecular and pathogenic characterization of a Newcastle disease virus (NDV) isolate from pigeons in Bangladesh. Molecular phylogenetic analysis based on the complete fusion gene sequences classified the three study isolates into genotype XXI (sub-genotype XXI.1.2) together with recent NDV isolates obtained from pigeons in Pakistan (2014-2018). The Bayesian Markov Chain Monte Carlo analysis revealed that the ancestor of Bangladeshi pigeon NDVs and the viruses from sub-genotype XXI.1.2 existed in the late 1990s...

Animal experiments have shown that injectable collagen scaffold with human umbilical cord-derived mesenchymal stem cells can promote recovery from spinal cord injury. To investigate whether injectable collagen scaffold with human umbilical cord-derived mesenchymal stem cells can be used to treat spontaneous intracerebral hemorrhage, this non-randomized phase I clinical trial recruited patients who met the inclusion criteria and did not meet the exclusion criteria of spontaneous intracerebral hemorrhage treated in the Characteristic Medical Center of Chinese People's Armed Police Force from May 2016 to December 2020...

In winter 2016/2017, the highly pathogenic avian influenza virus H5N8 was detected in backyard poultry in Serbia for the first time. The second HPAI outbreak case in backyard poultry was reported in 2022, caused by subtype H5N1. This is the first study that documents the laboratory identification and pathology associated with highly pathogenic avian influenza in poultry in Serbia during the first and second introduction waves. In both cases, the diagnosis was based on real-time reverse transcriptase PCR. The most common observed lesions included subepicardial hemorrhages, congestion and hemorrhages in the lungs, and petechial hemorrhages in coelomic and epicardial adipose tissue...

Parkinson's disease (PD) is a progressive neurodegenerative disorder of the central nervous system. In different studies, it has been investigated that boric acid has positive effects on different mechanisms that are important in PD. The aim of our study was to investigate the pharmacological, behavioral and biochemical effects of boric acid on rats with experimental PD with Rotenone. For this purpose, Wistar-albino rats were divided into 6 groups. Only normal saline was applied subcutaneously (s.c) to the first control and sunflower oil to the second control group...

Background: Infantile epileptic spasms syndrome is an epileptic encephalopathy, characterized by spasms, hypsarrhythmia, and developmental regression. Appropriately selected patients with infantile epileptic spasms syndrome may be candidates for epilepsy surgery. Methods: This is a single-center retrospective case series of children 0-18 years with a current or previous diagnosis of infantile epileptic spasms syndrome with a lesion on magnetic resonance imaging (MRI) and/or positron emission tomography scan who underwent epilepsy surgery at The Hospital for Sick Children (HSC) in Toronto, Canada...