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The gray matter remains normal in all characteristics while the white matter changes texture, becoming soft and gelatinous. Rarefaction of the white matter is seen through light microscopy and the small number of axons and U-fibers that were affected can also be seen. Numerous small cavities in the white matter are also apparent.
Leukodystrophies are a group of, usually, inherited disorders, characterized by degeneration of the white matter in the brain. [1] The word leukodystrophy comes from the Greek roots leuko, "white", dys, "abnormal" and troph, "growth".
Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. [2] It is characterized by hypotonia, intellectual disability, and macrocephaly. [3] Children with JS may also have epilepsy or meet criteria for diagnosis with autism ...
Leukoencephalopathy (leukodystrophy-like diseases) is a term that describes all of the brain white matter diseases, whether their molecular cause is known or unknown. [1] It can refer specifically to any of these diseases: Progressive multifocal leukoencephalopathy; Toxic leukoencephalopathy
The white matter in preterm born children is particularly vulnerable during the third trimester of pregnancy when white matter developing takes place and the myelination process starts around 30 weeks of gestational age. [3]
These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control. Adult-onset forms of Alexander disease are less common. The symptoms sometimes mimic those of Parkinson's disease or multiple sclerosis , or may present primarily as a psychiatric disorder .
However, more recent research shows that cerebral softening in newborns and the degeneration of white matter is caused by asphyxia and/or later infection. There is no causal evidence to support the hypothesis that problems in labor contribute to the development of softening in infant white matter. [ 8 ]
Schilder disease or diffuse myelinoclastic sclerosis: is a rare disease that presents clinically as a pseudotumoural demyelinating lesion; and is more common in children. [56] [57] Solitary sclerosis: This variant was proposed (2012) by Mayo Clinic researchers. [58] though it was also reported by other groups more or less at the same time.