نتایج جستجو برای: pelizaeus
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Case presentation: FHTA, male, 12 years old, child of a non-consanguineous couple, history fetal distress, born at term, Apgar ⅞. Reported nystagmus since birth, difficulty controlling the head and hypotonia, despite maintaining eye contact, recognizing voices smiling. First evaluation with Pediatric Neurologist was 5 months clinical features horizontal vertical nystagmus, circumference 43.5 cm...
Pelizaeus-Merzbacher disease is a rare disease of infants and young children in which there is an arrest of myelination of the CNS. The cause of the disorder is unknown. Three cases are reported, representing the connatal and classical forms of the disease. The MR images obtained of these children are compared with histologic findings as reported in the literature. In the connatal form a comple...
In 1885, Pelizaeus described 5 boys in a single family with nystagmus, spastic quadriparesis, ataxia, and delay in cognitive development. In 1910, Merzbacher reexamined this family, which then included 14 affected individuals, including 2 girls, and found that all affected family members shared a common female ancestor. Also, he noted that the disease was passed exclusively through the female l...
The purpose of this article is to present contemporary information on the clinical and molecular diagnosis and the treatment of Pelizaeus-Merzbacher's disease (PMD) and related leukodystrophies. Various types of mutations of the X-linked proteolipid protein 1 gene (PLP1) that include copy number changes, point mutations, and insertions or deletions of a few bases lead to a clinical spectrum fro...
Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy caused by mutations or rearrangements in PLP1. It presents in infancy with nystagmus, jerky head movements, hypotonia and developmental delay evolving into spastic tetraplegia with optic atrophy and variable movement disorders. A clinically similar phenotype caused by recessive mutations in GJC2 is known as Pelizaeus-Mer...
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