Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report acute encephalopathy in two cases with severe congenital hydrocephalus. Case 1 was a 23-month-old girl, born at of 36weeks gestation and delivered by cesarean section due to congenital hydrocephalus. Magnetic resonance imaging (MRI) showed prominent ventricular dilation associated with hydrocephalus, Dandy-Walker variant and cortical malformation. The blood test for toxoplasmosis, syphilis, varicella-zoster, rubella, cytomegalovirus, and herpes simplex virus (TORCH) complex and various metabolic tests of blood and urine specimens yielded unremarkable results. She was admitted to our hospital for respiratory failure with fever and her clinical course deteriorated, progressing to hemiconvulsion hemiplegia epilepsy syndrome. Case 2 was a 17-month-old boy, born by spontaneous vertex delivery at 39weeks. Severe, asymmetrical ventricular dilation associated with hydrocephalus, cerebellar and brainstem hypoplasia, and punctuate calcifications of the thalamus, third and fourth ventricles, around the aqueduct, were observed on computed tomography (CT). The blood test for TORCH complex and various metabolic tests of blood and urine specimens yielded unremarkable results. He was admitted to our hospital for status epilepticus with fever and his clinical course progressed to hemorrhagic shock and encephalopathy syndrome. In patients with brain disorders, diagnosis and treatment are likely to be delayed and prognosis may thereby be worsened. When status epileptics or prolonged coma manifests even in patients with severe brain disorders, we must consider encephalopathy in the differential diagnosis.
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PMID:Acute encephalopathy in two cases with severe congenital hydrocephalus. 2109 88

This report describes a case of congenital toxoplasmosis in a newborn in Southern Italy. A pregnant mother had been admitted at the 20th week of her pregnancy on account of pharyngodynia and laterocervical lymphadenopathy. Although serological testing of the mother's serum documented a seroconversion with positive IgG and IgM anti-Toxoplasma antibodies during II trimester, the woman refused to perform prenatal diagnosis for congenital toxoplasmosis. Fetal ultrasound scan already showed mild asymmetrical triventricular hydrocephaly and cerebral calcifications. After birth, real-time PCR on cerebrospinal fluid and blood samples of the newborn showed a positive result for 529bp-repeat element DNA of T. gondii, In addition brain magnetic resonance imaging and computed tomography showed a characteristic diffuse brain tissue loss associated with hydrocephalus. For the first time molecular characterization of T. gondii isolate was performed directly from the newborn's CSF samples by using nested-PCR-RFLP of sag-2 and pk1 genes. The PCR-RLFP analysis revealed that the isolate belongs to the clonal type II, the predominant lineage causing human toxoplasmosis, as confirmed by DNA sequencing.
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PMID:Genotyping of Toxoplasma gondii strain directly from human CSF samples of congenital toxoplasmosis clinical case. 2836 78