Journal of Pediatric and Neonatal Individualized Medicine (JPNIM)

Inside human milk fortifiers: composition and clinical rationale

Fri, 07 Aug 2026 00:00:00 +0200

Human milk (HM) represents the gold standard for infant’s nutrition, including preterm and very low birth weight (VLBW) infants, owing to its well-documented benefits in reducing neonatal morbidity and supporting long-term neurodevelopmental and metabolic outcomes. However, HM alone does not meet the nutritional requirements of VLBW infants as defined by current European Society for Paediatric Gastroenterology, Hepatology and Nutrition guidelines, making fortification with protein, energy, and micronutrients a widely adopted strategy in Neonatal Intensive Care Units.

This article reviews the quantitative and qualitative aspects of HM fortification, with a focus on fortifiers currently available in Italy.

From a quantitative standpoint, multicomponent fortifiers provide additional protein and carbohydrates within recommended osmolality limits, though evidence on optimal protein intake thresholds and fortification strategies remains inconclusive. Lipid supplementation, particularly with docosahexaenoic acid and arachidonic acid, is recommended to increase the caloric intake, to address long-chain polyunsaturated fatty acid deficiency and to support neurodevelopment.

Regarding qualitative aspects, bovine milk-derived fortifiers remain the standard of care despite the fact that exposure to bovine milk-derived products is not optimal with respect to tolerance and the reduction of the risk of necrotizing enterocolitis. HM-derived fortifiers, despite their theoretical advantages, have not demonstrated clear superiority over bovine milk-derived products in terms of morbidity or growth outcomes, and raise significant ethical and economic concerns. Donkey milk-derived fortifiers represent an emerging and promising alternative, given their compositional similarity to HM, hypoallergenic properties, and preliminary clinical evidence showing improved feeding tolerance with comparable auxological and neurodevelopmental outcomes in VLBW infants.

Future perspectives point toward the industrial development of donkey milk-based fortifiers as a clinically feasible and ethically sustainable alternative to current bovine milk-derived formulations.

Zinc in neonatal health: a mini-review

Roberta Pintus, Alessandra Atzei, Vassilios Fanos, Luca Maggio — Tue, 28 Jul 2026 00:00:00 +0200

Zinc is an essential trace element with catalytic, structural, and regulatory functions relevant to neonatal growth, immune competence, epithelial integrity, neurodevelopment, and metabolic programming. Neonates at greatest risk of zinc deficiency include preterm and very-low-birth-weight infants, growth-restricted newborns, exclusively breastfed infants and infants with prolonged parenteral nutrition, high gastrointestinal losses, or severe systemic disease. This mini-review summarizes current evidence on zinc in neonatal health, with emphasis on biological plausibility, clinical manifestations of deficiency, and the potential benefits and limits of supplementation. Zinc supplementation may improve short-term growth in selected preterm or low-birth-weight infants, while effects on bronchopulmonary dysplasia, long-term neurodevelopment, and other prematurity-related outcomes remain uncertain. Zinc has also been evaluated as an adjunct to phototherapy for neonatal hyperbilirubinemia and as an adjunct to antibiotics in young-infant sepsis, but heterogeneity in populations, dosing, timing, and outcomes precludes routine use. Associations between zinc status and autism spectrum disorder or later cardiometabolic outcomes remain biologically plausible but not clinically proven. Overall, zinc supplementation in neonates should be targeted to documented or strongly suspected deficiency and high-risk clinical contexts, with monitoring for efficacy, safety, and interactions with other trace elements.

Early neonatal presentation of Joubert syndrome: a case report

Tue, 28 Jul 2026 00:00:00 +0200

Introduction: Joubert syndrome (JS) is a rare genetic disorder characterized by a distinctive midbrain-hindbrain malformation identifiable through brain imaging. Clinically, JS manifests as hypotonia, irregular respiratory patterns, oculomotor apraxia, ataxia, and developmental delay, and it is often accompanied by multi-organ involvement. Although no definitive treatment exists, early diagnosis is crucial for timely intervention and improved outcomes. This case report describes a neonatal presentation of JS, emphasizing the importance of early recognition and radiological data.

Case report: We present the case of a female neonate born at 39 weeks and 3 days, initially diagnosed with transient respiratory distress. The infant subsequently exhibited recurrent episodes of desaturation, abnormal eye movements, and hypotonia. Magnetic resonance imaging (MRI) revealed posterior fossa malformations consistent with JS, including vermian dysplasia, the characteristic “molar tooth sign” of the mesencephalon, and a “bat-wing” morphology of the fourth ventricle. Genetic testing confirmed JS. Further evaluations showed no evidence of systemic involvement.

Discussion: JS remains a diagnostic challenge due to its broad phenotypic spectrum. Early symptoms, such as respiratory distress and oculomotor abnormalities, can be subtle or mistaken for other neonatal conditions. MRI findings play a critical role in confirming the diagnosis, while genetic testing provides valuable information for family counseling. Comprehensive and multidisciplinary management, including neurological, ophthalmological, and developmental monitoring, is key for improving patient outcomes. This case highlights the importance of early diagnosis and multidisciplinary care in rare genetic disorders such as JS.