Polymorphisms of interleukin-1beta promoter in simple febrile seizures / 소아과

PURPOSE: Febrile seizure (FS) is the most common type of seizure. The role of genetic factors in FSs has long been recognized. A positive family history can be elicited in 25-40% of patients with FSs; nonetheless, the genes responsible for FSs in the majority of the population remain unknown. Interleukin-1beta (IL-1beta) is a pro-inflammatory cytokine that acts as an endogenous pyrogen. Thus, IL-1beta could be involved in the pathophysiology of FSs. METHODS: To determine whether or not single nucleotide polymorphisms of the IL-1beta gene are associated with susceptibility to simple FSs, IL-1beta promoter -31 and -511 genotyping was performed by means of polymerase chain reaction-restriction fragment (PCR-RF) length polymorphism in 40 FS patients (20 sporadic and 20 familial FS patients) and 33 controls. RESULTS: There were no significant differences in the frequencies of -31 C/T and -511 C/T in the IL-1beta promoter gene, between simple FS patients and controls. CONCLUSION: The frequency of CT/CT increased relatively in familial FS patients. A study examining a larger number of FS patients is needed.

Correlation of inhalant MAST on chronically coughing children / 소아과

PURPOSE: Recently, incidences of chronic cough with allergic disease have been increased. The identification of specific allergens for chronically coughing children is significant for diagnosis, proper treatment and prevention. The aim of this study was to identify significant contributors for sensitization in chronically coughing children. METHODS: A total of 106 children, aged 1-6 years, visiting for chronic cough(>3 weeks), were tested for inhalant multiple allergosorbent assay(MAST), eosinophil count and total IgE. Parents completed a questionnaire on past history of atopy(infantile eczema) and bronchiolitis, family history of allergy, breastfeeding, smoking, pets and floor coverings at home. RESULTS: Significant contributors for sensitization were:age(4-6 years), infantile eczema, positive family history of allergy and smoking by family. CONCLUSION: We were able to identify significant contributors for sensitization in chronically coughing children.

A Case of Intracranial Lipoma / 대한소아신경학회지

Intracranial lipomas are rare lesions, which represent 0.1-1.7% of all intracranial tumors. They preferentially occur near the midline, most frequently in the pericallosal cistern, and are often associated with various neurologic and systemic anomalies. Magnetic resonance imaging and computerized tomography together with clinical trials are of crucial importance for diagnosis. We report a rare case of intracranial lipoma of the body of corpus callosum in a child, who has had cyclic headache, vertigo, with a review of the literature.

A Case of Chiari III Malformation / 대한소아신경학회지

Chiari malformations are brain stem anomalies with or without spinal canal involvement. Type III is the rarest of the Chiari malformations and is characterized by a low occipital or high cervical encephalocele in combination with multiple cerebellar and brain stem anomalies. We report a case of Chiari III malformation of a newborn, who underwent repair of occipital meningoencephalocele and endoscopic third ventriculostomy. We present the case with a review of related literature.