No abstract available.
Child* ; Humans ; Mycoplasma pneumoniae* ; Mycoplasma* ; Pneumonia* ; Pneumonia, Mycoplasma*

Xeroderma pigmentosum is autosomal recessive, degenerative disease generated by abnormal repair of DNA damaged by ultraviolet radiation and environmental mutagens. DeSanctis-Cacchione syndrome is the most severe form of xeroderma pigmentosum variant. This syndrome is characterized with microcephaly, progressive mental retardation and deterioration, retarded growth and sexual development, sensorineural deafness, and cerebellar ataxia, choreoathetsis, quadriparesis. We describe the case of a 17 year old female patient, which fits into Desanctis-Cacchione syndrome clinically.
Adolescent ; Cerebellar Ataxia ; Deafness ; DNA ; Female ; Humans ; Intellectual Disability ; Microcephaly ; Mutagens ; Quadriplegia ; Sexual Development ; Xeroderma Pigmentosum

No abstract available.
Carcinoma, Hepatocellular*

BACKGROUND: Leukocytes, both polymorphonuclear leukocytes(PMNL) and monocytes/macrophages have been implicated in the pathogenesis of the cerebral ischemia and stroke. Neutrophils accumulate in post-hypoxic-ischemic neonatal rat brain prior to the evolution of necrosis and neutrophil depletion attenuates hypoxic-ischemic brain injury. However, the mechanisms leading to post-hypoxic-ischemic neutrophil accumulation are unknown yet. We hypothesized that Intercellular Adhesion Molecule-1 might mediate post-hypoxic-ischemic injury in the immature brain; thus, we evaluated ICAM-1 gene expression in post-hypoxic-ischemic neonatal(postnatal day 7) rat brain. METHODS: Neonatal rats(n=36) underwent right carotid ligation followed by exposure in 8% O2 for 2.5 hours; this procedure typically produces ipsilateral striatal, hippocampal and cortical infarction. Control groups are included by carotid ligation alone, hypoxia alone, and neither hypoxia nor ligation. For RNA extraction, rats were killed 0, 1, 2, 4, 8, 12, 24 and 48 h post- hypoxia-ischemia and RT-PCR was carried out. RESULTS: ICAM-1 mRNA was barely detected in the controls including normal and sham operated animals. In the cortex, striatum and hippocampus, ICAM-1 mRNA was significantly induced in the ipsilateral(right) side compared to the contralateral(left) side just after hypoxia-ischemia. The elevated ICAM-1 mRNA gradually reached a peak at 4 or 8 h and then decreased to an almost basal level by 24 to 48 h. In contrast, the less pronounced contralateral(left-sided) ICAM-1 mRNA expression appeared to peak earlier, within 2 h post-hypoxia-ischemia. CONCLUSION: The temporal profiles of post-hypoxic-ischemic ICAM-1 mRNA expression are consistent with a role in post-hypoxic-ischemic neutrophil recruitment and in the evolution of subsequent brain injury.
Animals ; Anoxia ; Brain Injuries* ; Brain Ischemia ; Brain* ; Gene Expression ; Hippocampus ; Infarction ; Intercellular Adhesion Molecule-1* ; Leukocytes ; Ligation ; Necrosis ; Neutrophil Infiltration ; Neutrophils ; Rats* ; RNA ; RNA, Messenger* ; Stroke

No abstract available.
Cholesterol* ; Triglycerides*

Cytomegalovirus(CMV) is the most common cause of congenital viral infections. CMV infection occurs in 0.4% to 2.4% of all live births. CMV causes thin cerebral cortices, diminished volume of white matter, and delayed myelination, bringing on encephalopathy, which may be manifested as seizures in some cases. CT findings in CMV encephalopathy present as irregular intracranial calcifications of the periventricular area. Recently, there are increasingly more reports about MRI findings in CMV encephalopathy and common findings of the encephalopathy are periventricular cysts and dilated lateral ventricles. We experienced a case of congenital CMV encephalopathy with patchy, nodular lesions of the periventricular area on magnetic resonance imaging(MRI). We report this case with a review of associated literature.
Brain* ; Cerebral Cortex ; Cytomegalovirus* ; Lateral Ventricles ; Live Birth ; Magnetic Resonance Imaging* ; Myelin Sheath ; Seizures

Guillain-Barre syndrome(GBS), characterized by Landry's ascending paralysis, has been known to be caused by some viruses and some vaccinations. We report a case of GBS caused by swine influenza vaccination. The patient presented with rapidly progressive ascending paralysis after vaccination. After intravenous immunoglobulin therapy and other conservative treatments, he recovered without any complications. Whilst the patient did not exhibit typical GBS features, we still suspect that this case represents a variant of GBS. GBS secondary to vaccination is rare and the association has yet to be proven. We therefore recommend that swine influenza vaccination continue despite this apparent case of secondary GBS.
Guillain-Barre Syndrome ; Humans ; Immunization, Passive ; Influenza A virus ; Influenza, Human ; Paralysis ; Swine ; Vaccination

Epilepsy is the most common paroxysmal disorders seen in the childhood. But other nonepileptic paroxysmal events are confused with epileptic seizures or have unusual clinical features. Nonepileptic paroxysmal disorders tend to recur episodically. So differential diagnosis between epileptic and nonepileptic disorders in fundamental not only to allow correct management of patients and but also avoid of unnecessary antiepileptic medications. To accurate diagnosis of nonepileptic paroxysmal disorders, the patients' age and accurate description of the events are need.
Diagnosis ; Diagnosis, Differential ; Epilepsy ; Humans

No abstract available.
Guillain-Barre Syndrome ; Plasmapheresis*

Neonatal seizures are the most common and distinctive clinical sign of prenatal and/or neonatal brain disorders. Newborn infants with seizures are at risk of mortality and survivors at risk for neurologic impairment, developmental delay, and subsequent epilepsy. Fifteen reports on neonatal seizures in Korea from 1983 to 2009 were analyzed. A total of 731 neonatal seizure cases were reported. Day of seizure onset, etiology, type of seizures, electroencephalogram findings, and outcomes were analyzed. It is necessary to establish a basic report for a future nationwide study of neonatal seizures.
Brain Diseases ; Electroencephalography ; Epilepsy ; Humans ; Infant, Newborn ; Korea ; Seizures ; Survivors