Management strategy and novel ophthalmological findings in neonatal severe hypertriglyceridemia: a case report and literature review.

BACKGROUND: Neonatal severe hypertriglyceridemia is rarely reported in the literature and there is no consensus for hypertriglyceridemia management at this age group. METHODS: The index case is a 4-week-old male infant with severe hypertriglyceridemia accidentally discovered during a circumcision surgery. His clinical and genetic characteristics and his successful management strategy are described. Furthermore, a detailed ophthalmological examination of the proband was conducted at 3 and 6 months of age using Fourier-domain-optical coherence tomography. RESULTS: Triglycerides level at presentation was extremely high 33,727 mg/dL (380.8 mmol/L). Two sessions of exchange blood transfusion on two consecutive days successfully reduced triglycerides to 382 mg/dL (4.3 mmol/L) with no adverse effects. The infant was discharged 3 days later. At discharge, the mother was advised to continue breastfeeding together with a medium-chain triglycerides formula. Satisfactory growth parameters and lipid profile values were obtained for a follow-up duration of 5 months with no reported attacks of acute pancreatitis. Lipoprotein lipase deficiency was confirmed by the detection of the LPL homozygous pathogenic variant c.805G > A; p.(Glu269Lys). Early corneal and macular lesions were detected and persisted on follow-up despite relatively good lipemic control. CONCLUSION: This case highlights the importance of the early discovery of severe hypertriglyceridemia during the neonatal period, which is needed for prompt management and prevention of severe complications. Rationalized breastfeeding can be tolerated within the diet plan of the disease with satisfactory outcomes. To our knowledge, it is the first study reporting early corneal and macular affection by severe hypertriglyceridemia in a neonate. Prolonged follow-up is needed to determine the extent of ophthalmological lesions.

Hearing screening in neonates with hyperbilirubinemia.

BACKGROUND: Hyperbilirubinemia is toxic to the auditory pathways and to the central nervous system, leaving sequelae such as hearing loss and encephalopathy. The damage to the auditory system occurs primarily within the brainstem and cranial nerve VIII, and manifests clinically as auditory neuropathy spectrum disorder. AIM: to establish the relationship that exists between hyperbilirubinemia at birth as a risk factor of neonatal hearing loss in children born in ABOU-EL-REISH hospital. MATERIALS AND METHODS: we carried out of 60 neonates categorized into two groups: Group (A n = 30), neonates with hyperbilirubinemia; Group (B n = 30), neonates without hyperbilirubinemia. RESULTS: Ten neonates were boys and twenty were girls from group A and eleven boys and nigh-teen girls from group B.There was significant statistical difference between group A and group B regarding ABR (P-value = 0.001) and a statistical difference regarding OAE (P-value = 0.103 in the right ear and 0.028 in the left ear). Also, our study shows the area under the curve and the diagnostic accuracy of total serum bilirubin (TSB) level for detection of hearing screening results (ABR) at a cut-off point 21 mg/dl (P-value = 0.008 and 0.009 in the right and left ears respectively.) CONCLUSIONS: Our study showed a relevant association between bilirubin levels and abnormal hearing screening results and the importance of combined screening with OAE and ABR tests.

Randomized controlled trial of a high dose of oral erythromycin for the treatment of feeding intolerance in preterm infants.

OBJECTIVES: To evaluate the effectiveness of high-dose erythromycin to treat feeding intolerance in preterm infants predominantly fed milk formula. DESIGN: This study is a prospective randomized controlled trial on 60 premature infants suffering from feeding intolerance. Thirty infants were given oral erythromycin ethylsuccinate at a dose of 50 mg/kg/day for 10 days or until they reached full enteral feeds. Randomization was stratified according to gestational age <32 weeks or ≥32 weeks gestation. The primary end point was the time taken to establish full enteral feeding since enrollment. Potential adverse effects associated with erythromycin were also monitored. Student's t test was used for comparison of continuous variables and χ(2)for categorical data. RESULTS: In infants <32 weeks, the use of erythromycin was associated with more daily weight gain (12.8 ± 2.6 g vs. 9.2 ± 5.3 g, p = 0.04) compared to the control group. Time to reach full feed did not differ between the erythromycin (13.8 ± 3.9 days) and the control (17.46 ± 4.9 days) groups (p = 0.07). In infants ≥32 weeks, there were no differences between the erythromycin and the control groups. CONCLUSION: High-dose erythromycin is associated with greater weight gain in preterm infants <32 weeks gestational age, who are predominantly fed cow's milk-based protein formulas.