Ocular findings in patients with cholestatic disorders of infancy: a single-centre experience

Background and study aims: Neonatal cholestasis can be associated with ocular findings that might aid in its diagnosis, e.g., Alagille syndrome [AGS] and Niemann Pick disease [NPD]. 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 Paediatric Hepatology Unit, Cairo University Paediatric Hospital, Cairo, Egypt. All infants underwent examination of lid, ocular motility, anterior and posterior segments and measurement of intraocular pressure, cycloplegic refraction, ocular ultrasonography and vision

Results: The study included 112 infants with various cholestasis; 73 [65.2%] were males. The median age was 2 months. Diagnosis was reached in 39 cases: 14 had AGS, 14 had biliary atresia [BA], 4 had NPD, 4 had post-haemolytic cholestasis, 2 had cytomegalovirus neonatal hepatitis, and one case had hepatorenal tyrosinaemia. Thirteen cases were probably having progressive familiar intrahepatic cholestasis [PFIC] type 1 or 2 considering their persistent cholestasis in the presence of normal gamma-glutamyl transpeptidase; 28 were left with a diagnosis of "idiopathic neonatal hepatitis" [INH], and 32 [28.6%] had no definite diagnosis. Ophthalmologic abnormalities were found in 39 cases [34.8%]. The commonest finding was unilateral/bilateral optic nerve drusen in 12 [10.7%], followed by posterior embryotoxon in 11 [9.8%]. Ocular findings were observed in 64.3% patients with AGS, 50% patients with NPD, 30.8% cases with suspected PFIC type 1or 2, 28.6% infants with INH, and 14.3% patients with BA

Conclusion: Ophthalmologic findings are not uncommon among cholestatic infants. Ophthalmologic examination should be routinely performed, including assessment of anterior segment, fundus examination, and ocular ultrasound

Study of parathyroid dysfunction among children and adolescent with alpha-thalassemia major

Background: Parathyroid hypofunction is one the endocrinopathies affecting patients with ?-thalassemia major [TM], while parathyroid hyperfunction is not well assessed. In this study, we aimed to evaluate the prevalence of parathyroid dysfunction in children with thalassemia major and to study its relation to age, gender, splenic status, serum calcium and ferritin. Study Sesign: In 70 children with TM /[41 [58.6%] males and 29 [41.4%] females with mean age 14.8+/-2.9 years; range 6-18 years/]; serum levels of intact pa rathormone [iPTH], calcium, phosphorus and alkaline phosphatase were measured. liver iron content was assessed in 42 cases with magnetic resonance imaging by means of T2*. Average serum ferritin was calculated for 1 year prior to the study. Results: Mean iPTH and serum phosphorus were within normal range. Mean calcium was below the lower limit of normal range. Seventy-three percent had normal parathyroid function with 3 [4.3%] had borderline iPTH. The prevalence of parathyroid dysfunction was evident in 27% cases. Thirteen [18.5%] had low iPTH and 6 [8.6%] cases had elevated iPTH levels. Forty-three [61.4%] cases had hypocalcemiaand5 cases [7.1%] had hyperphosphatemia. Age above 12 years, sex, splenectomy, hypocalecemia, serum ferritin above 1500 ng/ml and being not chelated were not proved to be risk factors of parathyroid dysfunction. There is a good correlation between serum ferritin and liver iron concentation [LIC] [r=0.5, p=0.001]. No correlations were found between PTH and age, frequency of blood transfusion, serum ferritin, serum calcium, phosphorus or alkaline phosphatase. Conclusion: Parathyroid dysfunction is common in patients with ?-thalassemia major and worth screening in early childhood even in the absence of hypocalcemia or iron overload. This might be the first step towards decreasing its prevalence among TM population. In addition, the onset and dose of calcium and vitamin D supplementation in pediatric patients with ß-thalassemia major should be re-evaluated