Paula and Bobby
Parents of Lillie
What is Sneddon syndrome?
Sneddon syndrome is a rare disease. It is also known as Divry-Van Bogaert syndrome Livedo Reticularis And Cerebrovascular Accidents.
The onset of this condition varies from 10-33 years and the skin condition usually precedes the cerebrovascular disease by some years. There are exceptions to this and some cases might present with dementia alone (Devuyst et al., 1996). The skin lesion consists of linear blue markings identical to those seen in people with poor circulation on a cold day and there is also evidence of peripheral vascular disease in the form of Raynaud's phenomenon. The intracranial lesions consist of endarteritis obliterans of the small and medium-sized arteries leading to strokes; many of those affected have arterial hypertension. Despite this, prognosis for life-expectancy is good, although progressive deterioration in mental function occurs. In the prospective, 6-year study reported by Boesch et al., (2003), there was a low incidence of territorial stroke, although the leukoencephalopathy was progressive. Weissenborn et al., (1989) point out a high female to male sex ratio. Some authors believe that this is the same condition as that described by Divry and Van Bogaert.
Inheritance has been suggested as autosomal dominant, however Zelger et al., (1993), in a good review of 21 patients, found no family history of the condition. Also, some cases with the Divry-Van Bogaert phenotype have been suggested to be recessive. Pettee et al., (1994) reported two brothers with Sneddon's syndrome. Both were shown to have antiphospholipid antibodies. This has been reported previously (Levine et al., 1988; Kalashnikova et al., 1990; Jura et al., 1994) but the significance is uncertain.In a series of 46 patients 27 were antiphospholipid negative and the rest were positive (Frances et al., 1999). One of the brothers reported by Pettee et al., (1994) was shown to have anticardiolipin antibodies and the other lupus anticoagulant. The condition has also been associated with rheumatoid arthritis (Butt and Burge, 1995).
Baxter et al., (1993) reported three cases with onset of neurological problems in childhood.
* This information is courtesy of the L M D.
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What gene changes cause Sneddon syndrome?
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.
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
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.
OMIM Number - 182410 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
ADA2 - 22q11.1
What are the main symptoms of Sneddon syndrome?
The typical symptoms of the syndrome are:
Cutis marmorata, Dysarthria, Developmental regression, Facial palsy, Autoimmunity, Behavioral abnormality, Stroke, Cerebral ischemia, Chorea, Acrocyanosis, Amaurosis fugax, Intracranial hemorrhage, Tremor, Nephropathy, Neurological speech impairment, Migraine, Mental deterioration, Muscle weakness, Autosomal dominant inheritance, Seizure, Antiphospholipid antibody positivity, Sporadic, Progressive, Vertigo, Hypertension, Memory impairment, Headache, Visual impairment, Hemiplegia/hemiparesis, Hemiplegia
How does someone get tested for Sneddon syndrome?
The initial testing for Sneddon syndrome 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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