Cerebellar Hypoplasia - Lymphoedema-Neuronal Migration Defect

What is Cerebellar Hypoplasia - Lymphoedema-Neuronal Migration Defect?

Cerebellar Hypoplasia - Lymphoedema-Neuronal Migration Defect is a rare disease. It is also known as Cobblestone lissencephaly, isolated.

Three males including a pair of monozygotic twins, were floppy from birth and were later ataxic (Hourihane et al., (1993). They also had clonic/tonic seizures and were mentally handicapped. One had a duodenal atresia. The fundi were pale and the VEP showed only a small response. Imaging of the brain revealed cerebellar hemisphere and vermis hypoplasia, a paucity of cerebral white matter and a neuronal migration defect including pachygyria. At least one had a Dandy-Walker cyst. The head circumference was on the 50th centile. The parents were half second cousins and the condition might be recessive rather than X-linked. The condition in the Hourihane et al., (1993) family has been mapped to 7q22 and mutations found in the RELN gene (Hong et al., 2000). A second family in the Hong et al., (2000) paper did not have the lymphoedema, but mutations in the same gene were found.

See elsewhere for:
Lissencephaly - cerebellar hypoplasia - myoclonus (Farah et al.,1997)
Lissencephaly type III (Attia-Sobol et al., 2001)
Lissencephaly - cleft palate - cerebellar hypoplasia (Kerner et al., 1999)
Cerebro-cerebellar lissencephaly (Kroon et al., 1996)
Lissencephaly - agenesis of the corpus callosum - dysplastic cerebellum (Miyata et al., 2004).

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* This information is courtesy of the L M D.

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What gene changes cause Cerebellar Hypoplasia - Lymphoedema-Neuronal Migration Defect?

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.

X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.

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 Cerebellar Hypoplasia - Lymphoedema-Neuronal Migration Defect?

The typical symptoms of the syndrome are:

How does someone get tested for Cerebellar Hypoplasia - Lymphoedema-Neuronal Migration Defect?

The initial testing for Cerebellar Hypoplasia - Lymphoedema-Neuronal Migration Defect 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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