Sturge-Weber Syndrome and Haematuria: a Case Report of an Unusual Presentation
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MEDICINE
Sturge-Weber Syndrome and Haematuria: a Case Report of an Unusual Presentation Ethan Mar 1
&
Cuong Do 2
Accepted: 4 November 2020 / Published online: 11 November 2020 # Springer Nature Switzerland AG 2020
Abstract Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous disorder. SWS is the most commonly described as a ‘triad’ of a facial port-wine naevus in the trigeminal nerve ophthalmic distribution, leptomeningeal angiomatosis and glaucoma. Renal infarcts have not previously been described in patients with SWS. The association behind SWS and renal infarcts is unclear, however, may be a result of the same cerebrovascular malformations occurring in the renal vasculature. We report on a patient with known SWS presenting with a first episode of frank haematuria, subsequently found to be a result of a renal infarct with preserved kidney function. This proposes new challenges in the investigation and management of comorbidities associated with SWS, most notably with regard to the use of radiological imaging and anticoagulation in younger patients. Keywords Sturge-Weber syndrome . Haematuria . Renal infarct
Background Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous disorder. It is most commonly described as a ‘triad’ of a facial port-wine naevus in the ophthalamic distribution of the trigeminal nerve, leptomeningeal angiomatosis and glaucoma [1, 2]. Cerebral vascular malformations result in the neurological manifestations of SWS, including seizures, stroke-like episodes and intellectual disabilities [3]. Disease progression has been associated with thrombotic events and venous stasis which perpetuates neurodegeneration [4]. The presence of leptomeningeal capillary-venous malformations affecting the occipital lobes or optic tract has also been described in literature as causing visual field defects [5]. The guanine-nucleotide-binding protein G(q) subunit alpha (GNAQ) gene, involved in G protein-coupled receptor signalling, has been associated with SWS; in particular, a somatic activating mutation in GNAQ has been found to cause This article is part of the Topical Collection on Medicine * Ethan Mar [email protected] 1
Department of Emergency Medicine, Queen Elizabeth II Jubilee Hospital, Brisbane, Queensland, Australia
2
Department of Medicine, Princess Alexandra Hospital, Brisbane, Queensland, Australia
dysregulated signalling activity [6]. In embryonic development, this leads to abnormal formation of blood vessels through dysfunction of peptide-receptor signalling, such as endothelin, leading to the malformation of the cerebral vasculature as described above [7]. More recently, GNA11 (guanine nucleotide-binding protein subunit alpha-11), the paralogue of GNAQ, has been identified as also being mutated in patients with SWS [8, 9]. In vitro, GNA11 mosaicism has been demonstrated to have downstream effects on multiple signalling pathways, which possibly explains its relevance in G protein disorders and their clinical features [10]. These encompass SWS, McCune-Albright s
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