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 defects, limb and skeletal anomalies, and short stature. Renal 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 hypoglycemia, ileal perforation, right hydroureter, and hydronephrosis. The patient subsequently developed hyperbilirubinemia, hepatic abscess, and cholangitis. At age 8 months, he underwent a liver transplant. Hepatic pathology diagnosed neonatal sclerosing cholangitis. Case 2 presented with renal failure at age 6 years. Renal ultrasound study showed markedly dysplastic kidneys requiring transplantation. In addition to characteristic findings of KS, she had coronal synostosis and was shown to have immune deficiency and an autoimmune disorder manifesting as Hashimoto thyroiditis and vitiligo. 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.

Renal biopsy in infants and children.

Renal biopsy is a technically difficult procedure in children. Some centers are still using general anesthesia, fluoroscopy, and/or open renal biopsies in young infants. We evaluated the safety and efficacy of two different types of 18-gauge, automated, spring-loaded disposable biopsy needles in 43 children, aged 8 months to 16 years, under ultrasound guidance. Microinvasive ASAP18 (Boston Scientific Corp, Watertown, MA) needles retrieve 19-mm long specimens only, while Ultra-Cut needles (Medical Device Technologies, Inc, Gainesville, FL) are adjustable and can retrieve 6-, 13-, or 19-mm specimens. Technically, Ultra-Cut needles are easier to use in infants or when small kidneys are biopsied. While two infants required intravenous ketamine, the remaining biopsies were done with intravenous sedation. Ultrasound-guided renal biopsy with 18-gauge microinvasive needles and intravenous sedation is a safe and reliable method for obtaining biopsy specimens in older children, as well as in small infants.