Severe congenital anomalies requiring transplantation in children with Kabuki syndrome

Kabuki syndrome (KS) is a rare multiple malformation disorder characterized by developmental delay, distinct facial anomalies, congenital heart defect s, limb and skeletal anomalies, and short stature. Renal anomalies have bee n reported in a few cases of KS, but to our knowledge, hepatic anomalies ha ve not. Here, we document two cases of KS requiring liver or kidney transpl antation: one with severe hepatic and renal anomalies and one with severe r enal anomalies. Both cases had the characteristic facial appearance of chil dren with KS, postnatal growth deficiency, and developmental delay, At birt h, case 1 presented with hypoglycemia, ileal perforation, right hydroureter , and hydronephrosis. The patient subsequently developed hyperbilirubinemia , hepatic abscess, and cholangitis, At age 8 months, he underwent a liver t ransplant. Hepatic pathology diagnosed neonatal sclerosing cholangitis, Cas e 2 presented with renal failure at age 6 years. Renal ultrasound study sho wed markedly dysplastic kidneys requiring transplantation. In addition to c haracteristic findings of KS, she had coronal synostosis and was shown to h ave immune deficiency and an autoimmune disorder manifesting as Hashimoto t hyroiditis and vitiligo, We conclude: 1) severe hepatic and renal anomalies leading to organ failure can occur in KS; 2) patients with neonatal sclero sing cholangitis should be examined closely for features of KS; 3) coronal synostosis may occur in KS; and 4) immune deficiency and autoimmune disorde r can be associated with KS. Am. J. Mcd. Genet. 80: 362-367, 1998. (C) 1998 Wiley-Liss, Inc.