Severe congenital anomalies requiring transplantation in children with Kabuki syndrome.

TitleSevere congenital anomalies requiring transplantation in children with Kabuki syndrome.
Publication TypeJournal Article
Year of Publication1998
AuthorsEwart-Toland A, Enns GM, Cox VA, Mohan GC, Rosenthal P, Golabi M
JournalAmerican journal of medical genetics
Date Published1998 Dec 4

Kabuki syndrome (KS) is a rare multiple malformation disorder characterized by developmental delay, distinct facial anomalies, congenitali heart defects, limb and skeletal anomalies, and short stature. Renali anomalies have been reported in a few cases of KS, but to our knowledge, hepatic anomalies have not. Here, we document two cases of KS requiring liver or kidney transplantation: one with severe hepatic and renal anomalies and one with severe renal anomalies. Both cases had the characteristic facial appearance of children with KS, postnatal growth deficiency, and developmental delay. At birth, case 1 presented with hypoglycemiai, ileal perforationi, right hydroureter, and hydronephrosisi. The patient subsequently developed hyperbilirubinemia, hepatic abscess, and cholangitis. At age 8 months, he underwent a liver transplant. Hepatic pathologyi diagnosed neonatal sclerosing cholangitis. Case 2 presented with renal failure at age 6 years. Renal ultrasound study showed markedly dysplastici kidneys requiring transplantation. In addition to characteristic findings of KS, she had coronali synostosisi and was shown to have immune deficiency and an autoimmune disorder manifesting as Hashimoto thyroiditis and vitiligoi. We conclude: 1) severe hepatic and renal anomalies leading to organ failure can occur in KS; 2) patients with neonatal sclerosing cholangitis should be examined closely for features of KS; 3) coronal synostosis may occur in KS; and 4) immune deficiency and autoimmune disorder can be associated with KS.

Alternate JournalAm. J. Med. Genet.
Citation Key9856564