A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.

Background: Congenital disorders of glycosylation (CDGs) are genetic diseases caused by pathogenic variants of genes involved in protein or lipid glycosylation. De novo variants in the SLC35A2 gene, which encodes a UDP-galactose transporter, are responsible for CDGs with an X-linked dominant manner. Common symptoms related to SLC35A2 variants include epilepsy, psychomotor developmental delay, hypotonia, abnormal facial and skeletal features, and various magnetic resonance imaging (MRI) findings.

Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation.

Background: Schizencephaly is a rare congenital central nervous system malformation characterized by linear, thickened clefts of the cerebral mantle. Recently, germline mutations in collagen type IV alpha 1 (COL4A1) have been reported to be a genetic cause of schizencephaly as a result of prenatal stroke. Patients with COL4A1 mutation demonstrate a variety of disease phenotypes.

[Posterior Quadrantectomy for Infant with Refractory Epilepsy:A Case Report].

We present the case of an 11-month-old girl with linear nevus sebaceous syndrome who underwent posterior quadrantectomy(PQ)for intractable epilepsy due to cortical dysplasia extending from the temporal, parietal, and occipital lobes in the right hemisphere. Epileptic spasms started at 4 months after birth, and the frequency of her seizures gradually increased to 10 episodes per day. Electroencephalograms in the interictal periods showed hypsarrhythmia.

Neuropsychiatric Disorder Associated with Group G Infection.

Immune-mediated central nervous system manifestations of group A -hemolytic (GABHS) infection include Sydenham's chorea, pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS)-which includes tic and obsessive compulsive disorders-and a variety of neurobehavioral disorders. We report a case of subspecies (group G ) (GGS) infection associated with involuntary movements, complex tics, and emotional lability in an 11-year-old Japanese girl. Serum IgM and IgG antibodies to lysoganglioside were positive, and she responded rapidly to intravenous immunoglobulin treatment.

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

Objective: Recent studies have elucidated causative roles for genetic abnormalities in early-onset epileptic encephalopathies (EOEE). Accompanying characteristic features, in addition to seizures, have also been suggested to provide important clues for an early and accurate genetic diagnosis of affected patients. In this study, we investigated the underlying genetic causes in patients with EOEE associated with infantile movement disorders.

Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.

We report a female patient who presented with intractable epileptic seizures, profound developmental delay since early infancy, and hyperkinetic movements with hand stereotypies. The patient initially developed focal seizures with multiple foci at 3 months of age. Thereafter, the seizures evolved to frequent episodes of hyperthermia-induced status epilepticus.

Genotype-phenotype correlations in alternating hemiplegia of childhood.

Objective: Clinical severity of alternating hemiplegia of childhood (AHC) is extremely variable. To investigate genotype-phenotype correlations in AHC, we analyzed the clinical information and ATP1A3 mutations in patients with AHC.

Methods: Thirty-five Japanese patients who were clinically diagnosed with AHC participated in this study.

Effect of mental processing on low back load while lifting an object.

Study Design: Biomechanical study using a 3D motion analysis system conducted in a laboratory setting.

Objective: To determine the effect of mental processing on low back load during lifting.

Summary Of Background Data: In addition to ergonomic factors such as frequent lifting, work-related psychosocial factors are significant in the onset of disabling back pain.

Visual cognitive function in infants with intractable epilepsy before and after surgery.

Purpose: One purpose of pediatric epilepsy surgery is to improve psychomotor development. However, few methods are available for evaluating cognitive function in infants with severe developmental delays. We used the following battery of tests to evaluate visual cognitive function of infants following surgery for intractable epilepsy.

Early-onset absence epilepsy at eight months of age.

Early-onset absence epilepsy refers to patients with absence seizures beginning before age four and comprises a heterogeneous group of epilepsies. Onset of absence seizures in the first year of life is very rare. We report a girl with intractable absence seizures with onset at age eight months.

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2.

Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT.

West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.

FOXG1 on chromosome 14 has recently been suggested as a dosage-sensitive gene. Duplication of this gene could cause severe epilepsy and developmental delay, including infantile spasms. Here, we report on a female patient diagnosed with maternal uniparental disomy of chromosome 14 and West syndrome who carried a small supernumerary marker chromosome.

Acquired opercular epilepsy with oromotor dysfunction: magnetoencephalographic analysis and efficacy of corticosteroid therapy.

The authors describe herein the magnetoencephalographic findings and long-term outcome of a girl with acquired opercular epilepsy with oromotor dysfunction. She presented with brief episodes of unconsciousness, tremulous movements of the upper limbs, and negative myoclonus, in addition to convulsive seizures. She also had prolonged episodes of dysarthria and oral motor dysfunction, a gradual decrease in speech output, impairment of finger movements, and deterioration in cognitive performance over several years.

Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient.

We report on a female patient with Dandy-Walker malformation possibly caused by heterozygous loss of ZIC1 and ZIC4. The patient presented with mental retardation, epilepsy, and multiple congenital malformations including spina bifida, mild dysmorphic facial features including, thick eyebrows, broad nose, full lips, macroglossia, and hypoplasia of the cerebellar vermis with enlargement of the fourth ventricle on brain magnetic resonance imaging, which is consistent with Dandy-Walker malformation. A chromosome analysis showed interstitial deletion of chromosome 3q23-q25.