AI Article Synopsis
- - Aagenaes syndrome, or lymphoedema cholestasis syndrome 1 (LSC1), is an inherited condition marked by liver issues (neonatal cholestasis) and chronic swelling (lymphoedema) mainly in the legs, which can get better with age.
- - The syndrome is inherited in an autosomal recessive manner, linked to a specific gene on chromosome 15q, particularly in a 6.6 cM region known as LCS1.
- - Angioid streaks, which are irregular cracks in the eye's membrane, can occur with Aagenaes syndrome and are generally asymptomatic unless they lead to more severe issues. They can also appear in various systemic
Article Abstract
Aagenaes syndrome, also called lymphoedema cholestasis syndrome 1 (LSC1), is characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age and severe chronic lymphoedema, mainly affecting the lower extremities. The condition is autosomal recessively inherited, and the gene is located on chromosome 15q. The locus, LCS1, was mapped to a 6.6 cM region on chromosome 15. Angioid streaks are visible irregular crack-like dehiscences in bruch's membrane that are associated with atrophic degeneration of the overlying retinal pigment epithelium. Angioid streaks have been described to be associated with pseudoxanthoma elasticum, paget's disease, sickle-cell anaemia, acromegaly, Ehlers-Danlos syndrome, and diabetes mellitus, but also appear in patients without any systemic diseases. Patients with angioid streaks are generally asymptomatic, unless the lesions extend towards the foveola or develop complications such as traumatic bruch's membrane rupture or macular choroidal neovascularization.
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