Family misfortune caused by hereditary bias: a reflection on mitochondrial disease diagnosis in a family.

Aim: Assisted reproductive technology (ART) is an invaluable strategy for preventing the inheritance of genetic disorders and promoting the birth of healthy children. Nevertheless, the general public's limited understanding of genetics and low awareness of available services obstruct effective utilization of genetic counseling. Our analysis of a family affected by mitochondrial genetic disease aims to improve public understanding of genetic knowledge and the importance of genetic counseling.

Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndrome.

Background: Glucose transporter 1 deficiency syndrome (Glut1DS) was initially reported by De Vivo and colleagues in 1991. This disease arises from mutations in the SLC2A1 and presents with a broad clinical spectrum. It is a treatable neuro-metabolic condition, where prompt diagnosis and initiation of ketogenic dietary therapy can markedly enhance the prognosis.

Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation.

Perforin is essentially involved in the granule-dependent killing activities of cytotoxic T lymphocytes and NK cells. Monoallelic PRF1 mutation increases the risk of autoimmune diseases, and biallelic PRF1 mutation causes familial hemophagocytic lymphohistiocytosis-2. Here, we report a case of a 12-year-old girl with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), followed by a rapidly progressive onset of hemophagocytic lymphohistiocytosis (HLH) 9 months later, alongside manifestations of demyelinating encephalopathy.

Adrenocorticotropic hormone combined with magnesium sulfate therapy for infantile epileptic spasms syndrome: a real-world study.

Background: Infantile epileptic spasms syndrome (IESS) is a serious disease in infants, and it usually evolves to other epilepsy types or syndromes, especially refractory or super-refractory focal epilepsies. Although adrenocorticotropic hormone (ACTH) is one of the first-line and effective treatment plans for IESS, it has serious side effects and is not sufficiently effective.

Methods: A retrospective study of the clinical outcomes of ACTH combined with magnesium sulfate (MgSO) therapy for IESS in two hospital centers was conducted.

Both epilepsy and anti-seizure medications affect bone metabolism in children with self-limited epilepsy with centrotemporal spikes.

Objective: Bone metabolism can be influenced by a range of factors. We selected children with self-limited epilepsy with centrotemporal spikes (SeLECTS) and lifestyles similar to those of healthy children to control for the confounding factors that may influence bone metabolism. We aimed to identify the specific effects of epilepsy and/or anti-seizure medications (ASMs) on bone metabolism.

Vigabatrin-associated brain abnormalities on MRI in tuberous sclerosis complex patients with infantile spasms: are they preventable?

Background: Vigabatrin (VGB) is currently the most widely prescribed first-line medication for individuals with infantile spasms (IS) and especially for those with tuberous sclerosis complex (TSC), with demonstrated efficacy. Meanwhile, its adverse events, such as vigabatrin-associated brain abnormalities on magnetic resonance imaging (MRI; VABAM), have also been widely reported.

Objectives: The objectives of this study were to observe the occurrences of VABAM in patients with IS caused by TSC (IST) and further explore the associated risk factors.

Integration of multiscale entropy and BASED scale of electroencephalography after adrenocorticotropic hormone therapy predict relapse of infantile spasms.

Background: Even though adrenocorticotropic hormone (ACTH) demonstrated powerful efficacy in the initially successful treatment of infantile spasms (IS), nearly half of patients have experienced a relapse. We sought to investigate whether features of electroencephalogram (EEG) predict relapse in those IS patients without structural brain abnormalities.

Methods: We retrospectively reviewed data from children with IS who achieved initial response after ACTH treatment, along with EEG recorded within the last two days of treatment.

Risk of vigabatrin-associated brain abnormalities on MRI: A retrospective and controlled study.

Objective: Vigabatrin (VGB) is the first-line treatment for infantile spasms (IS). Previous studies have shown that VGB exposure may cause vigabatrin-associated brain abnormalities on magnetic resonance imaging (MRI) (VABAM). Based on previous studies, this study aimed to go further to explore the possible risk factors and the incidence of VABAM.

Cesarean Section Due to Social Factors Affects Children's Psychology and Behavior: A Retrospective Cohort Study.

Cesarean section (CS) use has reached a frequency well-above what is expected on the basis of obstetric indications. The large increase in CS use, often for non-medical indications, is of concern given the risks for both women and children. Research about the influence of CS on children's behavior is not new, but most studies didn't differentiate CS due to social factors (such as fear of labor pain, auspicious dates, etc.

The Efficacy of Fecal Microbiota Transplantation for Children With Tourette Syndrome: A Preliminary Study.

Therapies for Tourette syndrome (TS) are insufficient, and novel therapies are needed. Fecal microbiota transplantation (FMT) has been a potential therapy for several neurological diseases. Here, we report a preliminary study to investigate the effects of FMT on patients with TS.

Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a.

Developmental and epileptic encephalopathy (DEE) is a severe encephalopathy in infants and early childhood. In this study we reported a recurrent de novo variant (c.3985C>T, p.

The Instigation of the Associations Between Melatonin, Circadian Genes, and Epileptic Spasms in Infant Rats.

Infantile spasm (IS) is one of the most common catastrophic epilepsy syndromes in infancy characterized by epileptic spasm. While adrenocorticotropic hormone (ACTH) is the first-line treatment for IS, it is evident that the seizures associated with IS exhibit a clear circadian rhythm; however, the precise mechanisms underlying such seizures remain unclear. Melatonin is an important amine hormone and is regulated by circadian rhythm.

Juvenile xanthogranuloma as a new type of skin lesions in tuberous sclerosis complex.

Objective: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient with new type skin lesions.

Methods: A 7-month-old TSC boy with multiple cutaneous nodules was admitted in our hospital.

Diffuse Leptomeningeal Glioneuronal Tumor Presented with Language Developmental Delay.

Diffuse leptomeningeal glioneuronal tumor (DLGNT) is a new central nervous system tumor defined by the WHO in 2016 characterized mainly by hydrocephalus, headache, and epilepsy. We reported the case of a patient diagnosed with DLGNT who presented with language developmental delay and positive but subtle changes in imaging two years before the emergence of typical clinical symptoms. Few studies were conducted on early tumor symptoms due to the limited number of cases.

Cobb Syndrome Manifesting as Repetitive Seizures in a 10-Year-Old Girl: A Case Report and Literature Review.

Cutaneous vertebral medullary angiomatosis, also known as Cobb syndrome, is a rare segmental neurocutaneous syndrome. This syndrome is considered to be a non-hereditary congenital disease that is usually associated with arteriovenous malformations in the skin and spine. The clinical manifestations are complex because the lesions can involve the spine, spinal cord, skin, and even the viscera.

Regulatory role of hippocampal PI3K and mTOR signaling pathway in NMDA-induced infant spasm rats.

: To explore the role of mTOR signaling pathway in modulating epileptogenesis in an N-methyl-D-aspartic acid (NMDA)-induced infant spasm (IS) rat model. : After inducing IS successfully, the phosphorylation status of PI3K, Akt, mTOR and S6K of brain and hippocampus tissues was assessed using western blot and immunochemistry analysis, respectively. The possible mechanism of mTOR signaling pathway was evaluated by the, inhibitors for mTOR and PI3K, rapamycin and wortmannin, respectively.

[Factors in first-time adrenocorticotropic hormone therapy and their influence on spasm control time in infantile spasms: a Cox proportional-hazards regression model analysis].

Objective: To investigate the factors in first-time adrenocorticotropic hormone (ACTH) therapy and their influence on spasm control time in infants with infantile spasms.

Methods: A total of 72 infants with infantile spasms who were admitted from January 2008 to October 2013 were enrolled. Their clinical data were collected, and the exposure factors for infantile spasms were selected.

[Psychomotor retardation with neutropenia for more than one year in a toddler].

A boy was admitted at the age of 17 months. He had psychomotor retardation in early infancy. Physical examination revealed microcephalus, unusual facies, and a single palmar crease on his right hand, as well as muscle hypotonia in the extremities and hyperextension of the bilateral shoulder and hip joints.

Intermittent oral levetiracetam reduced recurrence of febrile seizure accompanied with epileptiform discharge: a pilot study.

Background: In previous study, we have found intermittent oral levetiracetam (LEV) can effectively prevent recurrence of febrile seizure (FS). This study aimed to analyze the effects of the preventive on the patients with frequent FS accompanied with epileptiform discharge.

Methods: Patients with frequent FS were assigned to undergo Electroencephalogram (EEG).

Hypercapnia-induced brain acidosis: Effects and putative mechanisms on acute kainate induced seizures.

Aims: This study investigated the mechanism of the anticonvulsant effects of carbogen containing 5% CO in a kainic acid (KA) rat model.

Main Methods: Four-week-old Sprague-Dawley rats were divided into four groups: control, carbogen, KA+air, and KA+carbogen. Carbogen containing 5% CO was applied immediately after KA injection, and cortical pH was recorded.

Epileptic seizure, as the first symptom of hypoparathyroidism in children, does not require antiepileptic drugs.

Objective: Patients with hypoparathyroidism exhibit metabolic disorders (hypocalcemia) and brain structural abnormalities (brain calcifications). Currently, studies have determined whether antiepileptic drug (AED) treatment is required for epileptic seizures in children with hypoparathyroidism.

Method: This study aims to evaluate the data of two medical centers in Beijing based on the diagnosis of epileptic seizures as the first symptom of hypoparathyroidism in children.