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refsum disease/seizures
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6 risultati
A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy.
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Rud syndrome formerly was considered as a genetically heterogeneous but distinct clinical entity with the manifestations of ichtyosis, hypogonadism, small stature, mental retardation, epilepsy and, infrequently, retinitis pigmentosa. The existence of such a syndrome has recently been dismissed based
Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections.
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Peroxisome biogenesis disorders are related to a spectrum of genetic diseases that range from severe Zellweger syndrome to milder infantile Refsum disease. Zellweger syndrome is characterised by dysmorphic features, severe hypotonia, seizures, failure to thrive, liver dysfunction and skeletal
Dysmyelinating and demyelinating conditions in infancy.
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The myelin membrane is essential for rapid conduction of nerve impulses through the central nervous system. Failure of myelination--dysmyelination--may arise through several mechanisms. The synthesis of a particular myelin protein can be defective, as occurs for proteolipid protein in
Child neurology: Zellweger syndrome.
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Zellweger syndrome (ZS) is a severe manifestation of disease within the spectrum of peroxisome biogenesis disorders that includes neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondroplasia punctata. Patients with ZS present in the neonatal period with a characteristic
Late onset white matter disease in peroxisome biogenesis disorder.
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OBJECTIVE
To report late onset cerebral white matter disease as a distinctive phenotype in peroxisome biogenesis disorder (PBD).
BACKGROUND
There is phenotypic and genetic overlap among the PBD known as Zellweger syndrome (ZS), infantile Refsum disease (IRD), and neonatal adrenoleukodystrophy
Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency.
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BACKGROUND
Several forms of ichthyosis are associated with neurologic manifestations, including Sjögren-Larsson syndrome, Refsum disease, and mental retardation-enteropathy-deafness-neuropathy-ichthyosis-keratoderma (MEDNIK) syndrome. We report a case of X-linked steroid sulfatase deficiency,
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