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.
Child* ; Humans ; Mycoplasma pneumoniae* ; Mycoplasma* ; Pneumonia* ; Pneumonia, Mycoplasma*

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*

Hereditary fructose intolerance (HFI) is a carbohydrate metabolic disease of autosomal recessive inheritance. The basic deficit is deficiency of aldolase B, the enzyme catalyzing catabolism of fructose-1-phosphate, which is found only in intestinal mucosa, liver and kidney. Its main symptoms are abdominal pain, vomiting, hypoglycemia, and severe liver disease following the ingestion of fructose. Neurologic impairment is not typical in HFI, but it can occur in the acute phase of the disease. Neurologic impairment is related to the acute hepatic toxicity of fructose (hypoglycemia, abnormal coagulation, cardiovascular collapse). The 7 year-old German girl admitted because of generalized tonic clonic seizure. She had the first seizure at the age of 2, and was diagnosed as Lennox-Gastaut syndrome. Thereafter, frequent morning and midnight seizures were developed following indigestion of milk, sweety cake and cookies. Her family history was unknown because she was adopted from India at the 4 months of age. She showed developmental delay. After the ingestion of fructose, the patient experienced hypoglycemic episode within 60-90 minutes of the intake. Based on this finding, she was diagnosed as HFI. With fructose free diet, the patient became free of seizure even without the anticonvulsant, and improved in growth and development.
Abdominal Pain ; Child ; Diet ; Dyspepsia ; Eating ; Female ; Fructose ; Fructose Intolerance* ; Fructose-Bisphosphate Aldolase ; Growth and Development ; Humans ; Hypoglycemia ; India ; Intestinal Mucosa ; Kidney ; Liver ; Liver Diseases ; Metabolic Diseases ; Metabolism ; Milk ; Seizures ; Vomiting ; Wills

Headache can be divided into two categories: primary and secondary. Secondary headaches are associated with central nervous system or other pathology, and the underlying cause of a secondary headache can lead to death. For that reason, a thorough history and examination is key to determining the cause of headache. Other investigations including neuroimaging studies should be strongly considered in children with a history worrisome for intracranial pathology or an abnormal neurologic examination. We present a case of headache with diffuse hypertrophy of the dura mater due to lymphomatous dural infiltration. MRI revealed diffusely enhancing dural thickening. Biopsy of the dura mater found precursor B-cell lymphoblastic lymphoma. The patient was diagnosed with acute lymphoblastic leukemia and the headache was the initial presentation of acute leukemia. In this case, the rapid expansion of the dura mater resulted in elevation of intracranial pressure and caused an acute onset, progressive headache.
Biopsy ; Central Nervous System ; Child ; Dura Mater ; Headache ; Humans ; Hypertrophy ; Intracranial Pressure ; Leukemia ; Meninges ; Neuroimaging ; Neurologic Examination ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma ; Precursor Cell Lymphoblastic Leukemia-Lymphoma

No abstract available.

No abstract available.
Headache*

PURPOSE: Recent neonatal care unit survival rates have improved. These increasing survival rates have resulted in increased neurologic disorders. So we investigated the sorts and frequency of neurologic disorders at neonatal intensive care unit, association between gestational age and birthweight, neonatal mortality and tendency of neurologic disorders in survivors. METHODS: Retrospective reviews were made on 156 cases with one or more neurologic disorder of 1,399 neonates, who were admitted to the neonatal intensive care unit, Soonchunhyang Hospital from January 1997 to December 2001. Neurologic disorders were categorized into five groups:intraventricular hemorrhage, neonatal seizures, hypoxic- ischemic encephalopathy, central nervous system infection and central nervous system congenital malformations and chromosomal aberrations. RESULTS: Over the study period, 156 cases with neurologic disorders had a total of 193 neurologic disorders. The frequency of neurologic disorders increased from 3.2% in 1997 to 11.5% in 2001, while the neonatal mortality rates in intensive care unit have declined from 4.8% in 1997 to 3.7% in 2001. In 156 neonates, 134 had intraventricular hemorrhage, 28 had seizures, 24 had hypoxic-ischemic encephalopathy, 2 had central nervous system infections and 5 had congenital central nervous system malformation and chromosomal aberration. Frequencies of intraventricular hemorrhage and seizure has increased, but, that of hypoxic-ischemic encephalopathy has not changed, for the 5 years. CONCLUSION: Neonatal intensive care unit survival rates have improved for 5 years, but, the neurologic morbidity rates have increased. Because neurologic disorders have great influence on the long-term neurologic disability, early detection and treatment of neurologic disorders is important.
Brain Ischemia ; Central Nervous System ; Central Nervous System Infections ; Chromosome Aberrations ; Gestational Age ; Hemorrhage ; Humans ; Hypoxia-Ischemia, Brain ; Infant ; Infant Mortality ; Infant, Newborn ; Intensive Care Units ; Intensive Care, Neonatal* ; Nervous System Diseases* ; Retrospective Studies ; Seizures ; Survival Rate ; Survivors