Introduction: Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with dysregulation of genes on chromosome 11p15.5. Infants with BWS can present with hyperinsulinemic hypoglycemia. There are also distinctive clinical features including macrosomia, macroglossia and visceromegaly that may raise suspicion of this diagnosis. Case: A preterm female infant of 30 weeks gestation with a birth weight of 1.87 kg (97th centile) had recurrent hypoglycemia in the neonatal period, requiring escalation to a maximum glucose infusion rate of 17.6 mg/kg/min. Hypoglycemia only resolved after starting intravenous glucagon infusion. Critical sampling during hypoglycemia revealed serum insulin 3.9 µU/mL (3–25 µU/mL), serum ketone 0.2 mmol/L, cortisol 3,053 nmol/L and growth hormone 16.2 ng/mL. These findings supported the diagnosis of non-ketotic hyperinsulinemic hypoglycemia. She was commenced on oral diazoxide with resolution of hypoglycemia and discontinuation of glucagon. Examination at birth revealed macroglossia, hepatomegaly and ballotable kidneys. An initial US abdomen at birth revealed bilateral enlarged kidneys but normal liver. An initial chromosomal study revealed karyotype 46, XX. Over time, additional clinical features became evident fulfilling the diagnostic criteria for BWS, that is, polyhydramnios, large for gestational age, transient hypoglycemia, hyperinsulinism, macroglossia, hemihypertrophy, facial nevi, bilateral ear creases, hepatomegaly and ballotable kidney. A repeat US abdomen surveillance at 4 months old revealed a heterogeneous liver mass with marked vascularity, prompting a diagnosis of hepatic hemangioma. She was commenced on oral propranolol, with reduction in the size and vascularity of the liver hemangioma and decline in alpha-fetoprotein levels. Conclusion The clinical features of BWS may not be recognizable in a preterm baby in early neonatal period. Careful clinical examination should be done in a baby with persistent hyperinsulinemic hypoglycemia for underlying syndromal causes. US surveillance should also be carried out due to increased risk of hepatoblastoma or liver hemangioma in BWS, as was seen in this case.
Infant, Newborn ; Infant ; Beckwith-Wiedemann Syndrome ; Infant, Premature ; Hypoglycemia

Introduction: Hypernatremia in preterm babies is often due to insensible water loss, inadequate fluid intake or sodium imbalance due to immature kidneys. Congenital nephrogenic diabetes insipidus (CNDI) is an uncommon cause of hypernatremia in neonates and presents shortly after birth. Early recognition is important to prevent severe dehydration, electrolytes imbalance and neurological complications. Case: We report a case of a preterm 32-week female infant, with a birth weight of 1.14 kg with persistent hypernatremia (146– 156 mmol/L) from day 4 of life. She received total parenteral nutrition since birth and was started on breastmilk since day 5 of life. The baby was mildly dehydrated with weight loss and high urea (6.5 mmol/L) at day 7 of life. Total fluids were increased to 160 mL/kg/day but serum sodium remained elevated even though the urea had normalized. The infant was also noted to have high urine output (5–6 mL/kg/hour) since day 3 of life and suboptimal weight gain. Further evaluation at age 1 month revealed urine osmolality 71 mOsm/kg, serum osmolality 308 mOsm/kg and urine sodium <20 mmol/L when serum sodium was 150 mmol/L, suggestive of DI. A trial of desmopressin showed unchanged serum sodium (Na), suggesting nephrogenic DI. Administration of intravenous fluids of 1/5NSD10% resulted in further increase of both sodium (159 mmol/L) and serum osmolality (326 mOsm/kg) with low urine osmolality (111 mOsm/kg). Intravenous fluids were discontinued and she was started on hydrochlorothiazide (1 mg/kg/dose bd), resulting in gradual normalization of sodium 138 mmol/L. Post discharge, she had good weight gain and normal developmental milestones at corrected age of 1.5-month-old. Due to early onset hypernatremia, the infant was referred for genetic testing to rule out CNDI. Conclusion Early onset persistent hypernatremia and high urine output despite adequate fluid management should prompt evaluation of DI. Early diagnosis is crucial to prevent a chronic state of hypernatremia that can lead to growth and developmental delay.
Infant, Newborn ; Dehydration ; Hypernatremia

This review aimed to assess the usefulness of various magnetic resonance imaging (MRI) techniques for the quantification of neonatal white matter myelination. The Scopus, PubMed, and Web of Science databases were searched to identify studies following the PRISMA (preferred reporting items for systematic reviews and meta-analyses) statement using quantitative MRI techniques to examine samples collected from neonates to quantify myelin. Twelve studies were ultimately included. The results demonstrated that in validation studies, relaxometry is the most frequently explored approach (83.33%), followed by magnetization transfer imaging (8.33%) and a new automatic segmentation technique (8.33%). Synthetic MRI is recommended for quantifying myelin in neonates because of several advantages that outweigh a few negligible limitations.

This review aimed to assess the usefulness of various magnetic resonance imaging (MRI) techniques for the quantification of neonatal white matter myelination. The Scopus, PubMed, and Web of Science databases were searched to identify studies following the PRISMA (preferred reporting items for systematic reviews and meta-analyses) statement using quantitative MRI techniques to examine samples collected from neonates to quantify myelin. Twelve studies were ultimately included. The results demonstrated that in validation studies, relaxometry is the most frequently explored approach (83.33%), followed by magnetization transfer imaging (8.33%) and a new automatic segmentation technique (8.33%). Synthetic MRI is recommended for quantifying myelin in neonates because of several advantages that outweigh a few negligible limitations.

This review aimed to assess the usefulness of various magnetic resonance imaging (MRI) techniques for the quantification of neonatal white matter myelination. The Scopus, PubMed, and Web of Science databases were searched to identify studies following the PRISMA (preferred reporting items for systematic reviews and meta-analyses) statement using quantitative MRI techniques to examine samples collected from neonates to quantify myelin. Twelve studies were ultimately included. The results demonstrated that in validation studies, relaxometry is the most frequently explored approach (83.33%), followed by magnetization transfer imaging (8.33%) and a new automatic segmentation technique (8.33%). Synthetic MRI is recommended for quantifying myelin in neonates because of several advantages that outweigh a few negligible limitations.

This review aimed to assess the usefulness of various magnetic resonance imaging (MRI) techniques for the quantification of neonatal white matter myelination. The Scopus, PubMed, and Web of Science databases were searched to identify studies following the PRISMA (preferred reporting items for systematic reviews and meta-analyses) statement using quantitative MRI techniques to examine samples collected from neonates to quantify myelin. Twelve studies were ultimately included. The results demonstrated that in validation studies, relaxometry is the most frequently explored approach (83.33%), followed by magnetization transfer imaging (8.33%) and a new automatic segmentation technique (8.33%). Synthetic MRI is recommended for quantifying myelin in neonates because of several advantages that outweigh a few negligible limitations.

Group B Streptococcus (GBS) is a predominant causative pathogen of neonatal meningitis that is associated with a high rate of mortality and morbidity. The establishment of antenatal screening and intrapartum chemoprophylaxis has led to a significant reduction in the incidence rate of invasive GBS disease in developed countries. However, these strategies are not routinely practiced in most developing countries. To ensure good recovery of infants affected with GBS, a prompt diagnostic strategy and appropriate therapy are essential. We highlight here the case of a preterm male infant diagnosed with early-onset of GBS meningitis diagnosed by using polymerase chain reaction (PCR) method on the cerebrospinal fluid (CSF) of the infant. Initially the pathogen was not isolated in both blood and CSF cultures as sampling was performed after the administration of antibiotics. Hence, PCR was a crucial diagnostic test in facilitating the detection of the pathogen in CSF. We believe that PCR is a potentially fast and precise diagnostic method for infection in a newborn.

Umbilical artery catheterisation is considered the standard of care for arterial access in neonatal intensive care unit. It is routinely used for blood sampling and blood pressure monitoring. Unfortunately, an indwelling umbilical catheter have been associated with thrombotic complication which may result in either partial or complete occlusion of the aorta. We report here our experience in the diagnosis and treatment of a neonate with this condition.

Cytomegalovirus (CMV) is frequently isolated from neonates. Symptomatic infection is only apparent in 10% of affected babies with particular predilection for the reticuloendothelial and central nervous system. Isolated respiratory system involvement is rarely encountered. We report a case of a premature 32 weeks infant who required prolonged oxygen dependency and treated for bronchopulmonary dysplasia. The diagnosis of CMV pneumonitis was only discovered after detection of CMV DNA in the bronchoalveolar lavage. A high level of clinical awareness is crucial as a definite diagnosis and treatment will significantly alter the morbidity and the cost of therapy.

Focal eventration involving the posterior segment of the hemidiaphragm is a rare congenital anomaly. We report of a 10- day-old infant who presented with significant respiratory insufficiency and failure to show any responses to standard treatment. The diagnosis of focal eventration of the diaphragm was not anticipated until ultrasonographic examination revealed the defect. Diaphragmatic plication resulted in complete resolution of symptoms. A high level clinical awareness is crucial as a relatively simple surgical procedure could avert long term life-threatening complications.
Infant ; Respiratory Insufficiency