Efficacy and safety of phenobarbital for benign convulsions with mild gastroenteritis: A prospective randomized controlled study.

Background: previous studies have shown that phenobarbital (PB) is a effective and safe drug in the treatment of benign convulsions with mild gastroenteritis (CwG), but there is a lack of large sample prospective randomized controlled study of different doses. This study was a prospective randomized controlled study on the efficacy and safety of different doses of phenobarbital for CwG. There has been no similar study.

Case report of two affected siblings in a family with thiamine metabolism dysfunction syndrome 5: a rare, but treatable neurodegenerative disease.

Background: Thiamine metabolism dysfunction syndrome 5 (THMD5) is a rare inherited metabolic disorder due to thiamine pyrophosphokinase 1(TPK1) deficiency, caused by mutations in TPK1. The core symptoms of the disease is acute or subacute onset encephalopathy, ataxia, muscle hypotonia, and regression of developmental milestones in early infancy, repeatedly triggered by acute infectious illness. However, we report two brothers of THMD5 with compound heterozygous for the mutations c.

A case report of atypical hemiplegic migraine with nonheadache onset in a Chinese child.

Background: Hemiplegic migraine (HM) is an uncommon subtype of migraine with aura including motor weakness. The core symptoms of HM are headache and motor weakness. However, we report a rare case of atypical HM with nonheadache onset in a Chinese child who was misdiagnosed several times.

Balamuthia mandrillaris encephalitis in a child: case report and literature review.

Balamuthia mandrillaris encephalitis is a rare disease with high mortality in the children. Due to the lack of specificity in clinical manifestations, laboratory tests, and neuroimaging, the diagnosis of the disease is difficult, especially the diagnosis of etiology. Currently, the evidence shows that the diagnosis of the disease depends on local brain biopsy or autopsy, and it is difficult to detect the pathogens by traditional etiological detection methods in blood and cerebrospinal fluid.

High-dose prednisone therapy for infantile spasms and late-onset epileptic spasms in China: The addition of topiramate provides no benefit.

Purpose: To compare the clinical efficacy of high-dose prednisone monotherapy and the combination of hormone and moderate-dose topiramate (TPM) therapy in children with infantile spasms (IS) and late-onset epileptic spasms (ES), and to evaluate whether the addition of TPM would provide more benefits for patients.

Methods: All patients were assigned to receive either high-dose prednisone alone (the maximum doses was 60 mg a day) or high-dose prednisone with TPM (the moderate doses was 5 mg/kg/day). The primary outcome was the proportion of children who achieved cessation of spasms at day-49 or day-56 after initial treatment (the minimum duration of treatment were 49 days).

Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.

Background: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity.

Methods: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers.

[Immunological mechanism of prednisone in the treatment of infantile spasm].

Objective: To investigate the immunological mechanism of prednisone in the treatment of infantile spasm (IS) by evaluating the immune function of IS children before and after treatment.

Methods: Thirty children with IS were enrolled as IS group. Thirty healthy infants who underwent physical examination were enrolled as healthy control group.

Efficacy and tolerability of high-dose prednisone in Chinese children with infantile spasms.

Objectives: The aim of this study is to preliminarily evaluate the clinical efficacy and safety of high-dose prednisone in the treatment of infantile spasms (IS) in China, and to provide additional choice of the therapy of IS.

Methods: Twenty patients aged 3-53 months with IS were collected in the Department of Neurology of Jiangxi Children's Hospital from May in 2011 to December in 2012, who were placed on high-dose prednisone (took prednisone tablet of 10mg four times a day) for 2 weeks during admission to our hospital. The assessment of spasms seizure and video-EEG monitoring were preformed before treatment and after 2 weeks and the end of treatment of the regimen (7 weeks), respectively.