Abstract
Craniosynostosis syndromes are rare and prognosis would benefit from early diagnosis and treatment. We tried to establish a fast molecular diagnosis method to detect craniosynostosis syndromes.One patient aged 6 months was observed and diagnosed at first, and then another 10 patients were included in this study. All of them suffered from congenital hydrocephalus with normal head circumference. Karyotype analysis, chromosome genome microarray analysis and whole exome sequencing were used.The first patient was diagnosed as Apert Syndrome based on his clinical features and whole exome sequencing. The other 10 patients were also detected by the same protocol and one of them was found to be with Crouzon Syndrome. Both of the patients with craniosynostosis syndrome were treated in time and benefited from this new diagnosis protocol.Craniosynostosis syndromes cause hearing loss and deformity. It is worthy to detect mutations on FGFR1, FGFR2 and FGFR3 for children who suffer from congenital hydrocephalus with normal head circumference.
Highlights
Functional brain imaging modalities have been used as key tools for studying brain regional and global processes in healthy adults, as well as the pathophysiology and course of neurologic and psychiatric disorders
The mechanism is related to the disturbed brain insulin metabolism by the alteration in insulin/insulin-like growth factor-1 signaling in the affected patients [2,3]
We focused on FDG PET findings in normal brain aging process, on glucose metabolism in particular regions of brain
Summary
Functional brain imaging modalities have been used as key tools for studying brain regional and global processes in healthy adults, as well as the pathophysiology and course of neurologic and psychiatric disorders. Age-related neurodegenerative diseases such as Alzheimer’s diseases are associated with the functional and structural changes. Glucose regional cerebral metabolic rate (rCMRglc) is considered a determinant of brain functional activity. PET is a conventional nuclear imaging modality, which allows conducting semi-quantitative investigations based on the body’s uptake of a radioactive labeled molecule (in contrast to CMRglc which is quantitative). In brain studies this is often FDG, a radioactive labeled molecule, which is a marker of glucose metabolism. We focused on FDG PET findings in normal brain aging process, on glucose metabolism in particular regions of brain.
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