Publications by authors named "Jihua Xie"

Article Synopsis
  • A case of neonatal tuberous sclerosis syndrome (TSC) was misdiagnosed as intracranial hemorrhage due to atypical early symptoms in a female infant who experienced convulsions shortly after birth.
  • Despite initial treatment for what was believed to be intracranial hemorrhage, further testing confirmed TSC, revealing no known genetic mutations.
  • The patient was treated with a combination of antiepileptic medications, but seizures were not fully controlled, highlighting the need for careful differentiation between TSC and other conditions like hemorrhage in neonates.
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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.

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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.

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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.

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