Xantomatosis pada sindrom Alagille

Balquist Farida, Srie Prihianti, Triana Agustin, Julfina Bisanto, Johana W Marwoto, Indria I Kartini, Herman Cipto

Abstract


ABSTRACT Xanthomatoses are deposition of lipid in the skin and elsewhere caused by hyperlipidemia, either caused by primary genetic defect or secondary to defective metabolism. Xanthomas in children are uncommon, could be caused by Alagille syndrome, an inherited syndrome of billiary hypoplasia leading to elevated serum cholesterol. It is associated with some organ abnormalities and characteristic facial appearance., A 2-year old boy had an eruption of yellowish papules which spreaded and accompanied with itch since one year old. He had bile obstruction since he was born and jaundice since 1 week after birth. The patient was icteric, with widened forehead and hypertelorism. On the face, trunk, gluteus, and knuckles there were yellowish-skin colored papules and plaques, lenticular to plaque in size. Histopathologic examination revealed xanthoma. We found hypercholesterolemia and hyperlipidemia. There were hepatomegaly, intrahepatic cholestasis, and liver biopsy revealed Alagille syndrome. Clinical manifestation and histopathologic finding of this patient confirmed Alagille syndrome. We found several features of xanthomatoses such as xanthelasma, eruptive xanthoma and tuberous xanthoma, Treatment with lipid lowering agent and observation, it is expected the xanthoma will resolve spontaneously. Keywords: xanthomatoses , xanthelasma, eruptive xanthoma, tuberous xanthoma, Alagille syndrome

ABSTRAK Xantomatosis adalah deposit lemak pada kulit atau tempat lain karena hiperlipidemia, disebabkan oleh defek genetik primer atau sekunder pada kelainan metabolisme. Xantoma jarang pada anak, dapat disebabkan sindrom Alagille, yakni suatu kelainan genetik berupa hipoplasia saluran empedu disertai peningkatan kadar kolesterol serum. Sindrom ini terkait dengan kelainan pada beberapa organ dan wajah yang khas. Seorang anak laki-laki berusia 2 tahun, timbul banyak bintil kekuningan yang meluas dan gatal sejak usia 1 tahun. Pasien menderita sumbatan empedu sejak lahir dengan tubuh kuning mulai usia 1 pekan. Pasien ikterik, pada wajah terdapat dahi yang lebar, menonjol dan hipertelorisme. Di wajah, badan, bokong, serta sendi tangan dan kaki terdapat banyak papul dan plak, lentikuler-plakat, berkelompok, warna kekuningan. Histopatologi sesuai xantoma. Terdapat hiperkolesterolemia dan hipertrigliseridemia. Pada pemeriksaan USG ditemukan hepatomegali dan kolestasis intrahepatik dan gambaran histopatologi hati sesuai dengan sindrom Alagille. Gambaran klinis dan histopatologis pada pasien ini sesuai dengan sindrom Alagille. Ditemukan beberapa gambaran xantoma, yakni xantelasma, xantoma eruptif, dan xantoma tuberosa. Penatalaksanaan dengan obat penurun kadar lemak darah dan observasi lesi kulit, diharapkan xantoma akan resolusi spontan. Kata kunci : xantomatosis, xantelasma, xantoma eruptif, xantoma tuberosa , sindrom Alagille

 


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