Paula and Bobby
Parents of Lillie
Cavitating Leukoencephalopathy - Early Onset - Type Naidu (2005)
What is Cavitating Leukoencephalopathy - Early Onset - Type Naidu (2005)?
Cavitating Leukoencephalopathy - Early Onset - Type Naidu (2005) is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Naidu et al., (2005) reported 19 cases of a cavitating leukoencephalopathy with onset between 2 months and 3.5 years. Seven died between 11 months and 14 years of age. MRI showed patchy leukoencephalopathy with cavities and vascular permeability. Initially there was involvement of the corpus callosum,cerebral and cerebellar white matter (sparing U-fibres) and the cord. These lesions progressed and coalesced to form larger cavities. Macroscopically some were 1cm in diameter and microscopically, these were confined to the white matter. Occasionally, clusters of foamy macrophages could be seen in the cavities. Blood and CSF lactates were increased in some. Clinically, the condition resembled an infection and in the acute stages of the encephalopathy there was irritability, opisthotonus, fever and then some degree of recovery before the next episode. Spasticity and ataxia were other featuresRead More
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What gene changes cause Cavitating Leukoencephalopathy - Early Onset - Type Naidu (2005)?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Cavitating Leukoencephalopathy - Early Onset - Type Naidu (2005)?
The typical symptoms of the syndrome are:
How does someone get tested for Cavitating Leukoencephalopathy - Early Onset - Type Naidu (2005)?
The initial testing for Cavitating Leukoencephalopathy - Early Onset - Type Naidu (2005) can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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