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Familial Sneddon’s syndrome with microbleeds in MRI

S Llufriu¹, A Cervera¹, S Capurro², A Chamorro¹

¹ Stroke Unit, Hospital Clinic, Barcelona, Spain
² Radiology Service, Hospital Clinic, Barcelona, Spain

Correspondence to:
achamorro{at}ub.edu

Sneddon’s syndrome is an uncommon cause of stroke in young people, characterised by livedo reticularis and cerebrovascular disease. A few familial cases have been described. We present another familial case in which MRI demonstrated small vessel ischaemia with prominent microbleeds.

A 34-year-old woman with right hemiparesia, progressive ataxia since early childhood and frequent migraine attacks was treated in our hospital. In the last year, she had experienced episodes of dizziness and dysphagia. The neurological examination disclosed mild cognitive impairment, right hemiparesia, horizontal nystagmus and left cerebellar signs. On clinical examination, prominent skin lesions, mainly in the thighs, were consistent with livedo reticularis (fig 1).

View this figure (67K): in this window | in a new window | PowerPoint for Teaching   Figure 1 Livedo reticularis on the arms and thighs.

 

MRI images were performed in a 1.5 Tesla (Symphony, Siemens) using a standard protocol of T1, T2, fluid attenuated inversion recovery (FLAIR), T2* gradient echo (GRE) and diffusion weighted sequences and arterial intracranial angio-MRI. Multiple bilateral capsule–ganglionar and left pontine infarcts, especially evident in FLAIR sequences, were observed. Confluent periventricular white matter T2 hyperintensity lesions were consistent with chronic ischaemic changes (fig 2). In T2* GRE sequences, multiple hypointense foci were compatible with microbleeds (fig 2).

View this figure (79K): in this window | in a new window | PowerPoint for Teaching   Figure 2 (A) Axial fluid attenuated inversion recovery (images show bilateral capsule–ganglionar lacunar infarcts and bilateral symmetric periventricular white matter hyperintensity, in a "butterfly pattern". (B) Axial T2* gradient echo images disclose multiple hypointense foci, located in capsule–ganglionar, cortico-subcortical and periventricular white matter, suggestive of hemosiderin deposits.

 

Angio-MRI, carotid ultrasonography and transoesophageal echocardiogram were normal. Prothrombotic states and antiphospholipid antibodies were ruled out as appropriate. A skin biopsy was non-specific.

Two sisters and one brother had livedo reticularis and a history of early onset stroke. The remaining sister had livedo reticularis and an abortion, and her father (also with livedo reticularis) died from a myocardial infarction at the age of 54 years. Autosomal dominant inheritance is suspected in this case.

Sneddon’s syndrome is a non-inflammatory arteriopathy characterised by livedo reticularis and cerebrovascular disease. It is an uncommon cause of stroke in young people and it has been associated with the antiphospholipid syndrome.¹ It mainly occurs sporadically, although a few familial cases have been reported.² In familial cases the most common pattern of inheritance is autosomal dominant, although the gene responsible is not known.

Intracranial bleeding has been described in rare cases, but as far as we know there is no previous description of microbleeds in the literature. This finding could be a marker of impending haemorrhagic stroke³ and consequently its identification could assist to individualise safer therapies to prevent stroke, discriminating between anticoagulants and antiplatelet agents.

This article has been adapted from Llufriu S, Cervera A, Capurro S, Chamorro A. Familial Sneddon’s syndrome with microbleeds in MRI Journal of Neurology, Neurosurgery and Psychiatry 2008;79:962

Competing interests: None.

Ethics approval: Ethics approval was obtained.

Patient consent: Informed consent was obtained for publication of the case details described in this report and for fig 1.

1. Boesch, SM, Plörer, AL, Auer, AJ, et al.The natural course of Sneddon syndrome: clinical and magnetic resonance imaging findings in a prospective six year observation study. J Neurol Neurosug Psychiatry 2003;74:542–4.[Abstract/Free Full Text]
2. Szmyrka-Kaczmarek, M, Daikeler, T, Benz, D, et al.Familial inflammatory Sneddon’s syndrome—case report and review of the literature. Clin Rheumatol 2005;24:79–82.[CrossRef][Medline]
3. Koennecke, HC. Cerebral microbleeds on MRI: prevalence, associations, and potential clinical implications. Neurology 2006;66:165–77.[Abstract/Free Full Text]

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