Brain & development
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Brain & development · Sep 2014
Serum tau protein level serves as a predictive factor for neurological prognosis in neonatal asphyxia.
Tau protein is a microtubule-associated protein that is present in axons. Elevated tau protein levels in cerebrospinal fluid or serum are associated with several central nervous system diseases and can indicate neuronal injury. ⋯ The present findings indicate serum tau protein levels measured on postnatal days 3 and 7 can predict neurological prognosis following neonatal asphyxia.
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Brain & development · Sep 2014
Case ReportsA female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder.
Many females who are heterozygous for ornithine carbamoyltransferase (OTC) deficiency are asymptomatic or intermittently symptomatic with great phenotypic variability. Therefore, the diagnosis of this condition is occasionally a challenge and is often delayed. A 12-year-old girl who was initially diagnosed as having attention deficit-hyperactivity disorder (ADHD) became comatose and developed right-sided hemiparesis during her psychiatric admission. ⋯ Genetic analysis revealed a heterozygous mutation of N47I in the X-linked OTC gene. Her mental status and hemiparesis improved after hyperammonemia treatment. Here, we report a rare case of a manifestating female carrier with severe symptoms of OTC deficiency masquerading as ADHD.
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Brain & development · Sep 2014
Case ReportsA case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child.
Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and renal anomaly that are caused by ciliary dysfunction. 16 genes have been associated with the BBS phenotype. Although recent pathophysiological studies using animal models have shown that ciliary dysfunction may induce hydrocephalus, there have been no reports of BBS with intracranial hypertension. We here describe a 9-year-old Japanese girl who was diagnosed as having BBS and later received renal transplantation due to chronic renal failure. ⋯ No genetic abnormalities were detected by DNA chip analysis or exome sequencing. Her papilledema improved following administration of acetazolamide. This is the first report of a case of BBS complicated with intracranial hypertension and its treatment.