Pattern of ocular manifestations in Egyptian infants with cholestatic disorders

Background Neonatal and infantile cholestasis can be associated with ocular findings that might aid in the diagnosis of diseases such as Alagille syndrome (AGS) and Niemann–Pick disease (NPD). Aim We aimed to investigate the frequency of ocular manifestations in infants with cholestasis. Patients and methods This cross-sectional study included cholestatic infants presenting to the Pediatric Hepatology Unit, Pediatric Hospital, Cairo University. All infants underwent ophthalmological examinations including anterior segment examination using a hand-held slit lamp, ocular motility, cycloplegic refraction, intraocular pressure measurement, and ocular ultrasonography. Results The study included 112 infants with various cholestatic disorders of infancy. Of them, 73 (65.2%) were male. The median age was 2 months. A diagnosis was reached in 39 cases: 14 had AGS, 14 had biliary atresia, four had NPD, four had posthemolytic cholestasis, two had cytomegalovirus neonatal hepatitis, and one case had hepatorenal tyrosinemia. Thirteen cases were probably having progressive familiar intrahepatic cholestasis types 1 or 2 in view of their persistent cholestasis in the presence of normal γ-glutamyl transpeptidase level. Sixty were left with a diagnosis of ‘idiopathic neonatal hepatitis’. Ophthalmological assessment showed abnormal findings in 39 cases (34.8%). The most common finding was unilateral/bilateral optic nerve drusen in 12 cases (10.7%), followed by posterior embryotoxon in 11 (9.8%) cases. Ocular findings were observed in several cholestatic disorders, including in 64.3% of patients with AGS, 50% with NPD, 36.7% of infants with idiopathic neonatal hepatitis, and 14.3% with biliary atresia. Conclusion Ophthalmological assessment should be part of the workup for the diagnosis and assessment of cholestatic infants

Outpatient Blind Percutaneous Liver Biopsy in Infants and Children: Is it Safe?

Background/Aim: We aim to investigate the safety of outpatient blind percutaneous liver biopsy (BPLB) in infants and children with chronic liver disease (CLD). Patients and Methods: BPLB was performed as an outpatient procedure using the aspiration Menghini technique in 80 infants and children, aged 2 months to 14 yrs, for diagnosis of their CLD. Patients were divided into three groups: Group 1 (6 hrs due to oversedation in 2.5%. There was a statistically significant rise in the 1-hr post-biopsy mean heart and respiratory rates, but the rise was non-significant at 6 and 24 hrs except for group 2 where heart rate and respiratory rates significantly dropped at 24 hrs. No statistically significant difference was noted between the mean pre-biopsy and the 1, 6, and 24-hrs post-biopsy values of blood pressure in all groups. The 24-hrs post-biopsy mean hemoglobin and hematocrit showed a significant decrease, while the 24-hrs post-biopsy mean total leucocyte and platelet counts showed non-significant changes. The 24-hrs post-biopsy mean liver enzymes were non-significantly changed except the 24-hrs post-biopsy mean PT which was found to be significantly prolonged, for a yet unknown reason(s). Conclusions: Outpatient BPLB performed by the Menghini technique is safe and well tolerated even in infants and young children. Frequent, close monitoring of patients is strongly recommended to achieve optimal patient safety and avoid potential complications