Physical Address

304 North Cardinal St.
Dorchester Center, MA 02124

Infections of the Skin

Key Points Owing to their cutaneous, immunologic, and renal immaturity, newborns (especially premature neonates) are at increased risk of skin infection. As a group of potentially life-threatening but often treatable diseases, infections must always be considered in a newborn with skin lesions. Prompt diagnosis and initiation of therapy are crucial to prevent devastating long-term sequelae, particularly in instances of disseminated disease. Staphylococcus aureus , Streptococcus species,…

Congenital and Hereditary Disorders of the Skin

Key Points Genodermatoses are a broad spectrum of heritable disorders that affect the skin and may or may not affect other organ systems. Many, but not all, genodermatoses present with cutaneous and sometimes systemic findings in the neonatal period. Classification and nomenclature of these disorders is evolving as we learn more about the genetic basis and pathogenesis of these conditions. Newborns with signs of genetic skin…

Newborn Skin Development: Structure and Function

Key Points Healthy full-term infant skin is well developed and serves as an effective barrier. Premature infants, especially those of very low birth weight, have an ineffective barrier that increases the risk of invasive infection, dehydration, cutaneous injury, and toxic absorption. Birthmarks may have neurologic implications that require magnetic resonance imaging. In some cases, newborns and very young infants can be imaged using a “feed and…

Skeletal Dysplasias and Heritable Connective Tissue Disorders

Key Points Many skeletal dysplasias, as well as many connective tissue disorders, look similar in the newborn period, especially in premature infants. Arriving at the most accurate diagnosis possible is essential to proper medical decision-making and counseling the family. Utilizing all resources available (medical consultants, texts, online resources, and molecular diagnostics) contributes to this process. With respect to molecular diagnostics, (1) it is not essential in…

Common Neonatal Orthopedic Conditions

Key Points Developmental dysplasia of the hip represents a spectrum of diseases. All infants should be screened by physical examination; selective imaging based on risk factors is recommended. Most cases of congenital muscular torticollis resolve spontaneously. Physical therapy and surgery are reserved for recalcitrant cases. A variety of foot deformities are common and can be encountered in the neonate. Stretching, casting, or surgery may be required…

Craniofacial Conditions

Key Points Craniofacial malformations can impact swallowing, breathing, hearing, vision, speech, and development and for some neonates can result in life-threatening airway compromise. Early recognition and assessment of craniofacial conditions that include appropriate diagnostic studies, identification of associated health concerns, and family education can have a positive impact on the care and outcome of affected newborns. Timely referral to or consultation with a multidisciplinary craniofacial team…

Neonatal Hypoglycemia and Hyperglycemia

Key Points Neonatal hypoglycemia requires diagnostic consideration and urgent management to prevent recurrent hypoglycemia and avoid neurologic injury. Neonatal metabolism in the first days of life reflects a transition from the passive glucose consumption of the fetus to the active regulation of glucose of the neonate. Diagnosing the cause of hypoglycemia requires an evaluation of the hormonal and metabolic response to hypoglycemia. Patients with hyperinsulinemic hypoglycemia…

Disorders of the Thyroid Gland

Key Points Appropriate thyroid hormone function is essential for normal neurodevelopment in infancy and childhood. Hypothyroidism in the first year of life can result in significant deleterious effects on growth and neurologic injury. Delays in treating congenital hypothyroidism (CH) is the most common preventable cause of intellectual disability. Neonatal screening can provide early diagnosis and can prevent delays in treatment. Newborn screening methods differ and may…

Differences in Sex Development

Key Points Differences in sex development (DSD) are due to a variety of etiologies, requiring expertise of the pediatric endocrinologist, pediatric urologist, geneticist, and child psychologist, as well as the adolescent gynecologist, cytogeneticist, radiologist, and ethicist in some cases, to aid in the diagnosis, treatment, and optimization of long-term outcomes. Understanding normal sex development in males and females is critical to determining the cause of DSD.…

Disorders of the Adrenal Gland

Key Points Infants born with ambiguous genitalia or nonpalpable testes need to be evaluated for congenital adrenal hyperplasia as it can be life threatening. Adrenal steroid levels vary with gestational age. Adrenal insufficiency should be treated with hydrocortisone to avoid adrenal crisis. High doses of hydrocortisone contain mineralocorticoid activity. The Adrenal Gland Embryology Normal adrenal function is critically important for maintenance of intrauterine homeostasis, promotion of…

Disorders of Calcium and Phosphorus Metabolism

Key Points Neonatal hypocalcemia may be asymptomatic or present with signs of increased neuromuscular excitability, including focal or generalized seizures. Neonatal hypocalcemia is classified by the timing of onset, with early and late hypocalcemia having different causes and approaches to evaluation. Neonatal hypercalcemia may be asymptomatic if there are only mild elevations in calcium level or may lead to severe symptoms such as failure to thrive,…

Developmental Endocrinology

Key Points Developmental disorders of endocrine organs often manifest themselves in the neonatal period. The fetal adrenal gland produces large amounts of androgens to be used by the placenta for estrogen biosynthesis. Neonatal hypopituitarism may be due to a number of specific gene mutations with or without defects in other cranial structures. The thyroid emerges from the pharyngeal floor and then migrates caudally to its final…

Systemic Hypertension

Key Points There are numerous influences on normal blood pressure (BP) in neonates, including gestational age, birthweight, and maternal factors such as preeclampsia. As in older children, identification of hypertension (HTN) in the neonate is dependent on proper BP measurement technique. While the differential diagnosis of systemic HTN in the neonate is broad, common causes include catheter-related thromboembolic phenomena, chronic lung disease, kidney disease, and iatrogenic…

Urinary Tract Infections and Vesicoureteral Reflux

Key Points The presentation of urinary tract infections (UTIs) in neonates differs from that seen in older children. The type and route of infection also differ in neonates, when compared with older children. An appropriate urine sample for diagnosis is needed, but treatment should not be delayed. A febrile neonate in whom a UTI is suspected should be evaluated for sepsis, including blood and possible spinal…

Glomerulonephropathies and Disorders of Tubular Function

Key Points Nephrotic syndrome (NS) comprises persistent heavy proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Genetic abnormalities of structural or regulatory proteins within the glomerular basement membrane and/or podocyte lead to primary congenital NS (CNS). Treatment of CNS does not involve immunosuppression and is aimed at minimizing symptoms and preventing serious complications. Infections causing secondary NS include human immunodeficiency virus, syphilis, toxoplasmosis, hepatitis B, malaria, rubella, and cytomegalovirus.…

Chronic Kidney Disease

Key Points Kidney development continues until 34 weeks’ gestation. Neonatal intensive care unit graduates, especially those with a history of acute kidney injury (AKI), premature infants, and those with intrauterine growth retardation, are at risk for long-term chronic kidney disease (CKD). Clinical sequelae of CKD include anemia, acidosis, electrolyte abnormality, growth restriction, renal osteodystrophy, fluid overload, hypertension, and uremia. Attention to these complications is critical to…

Acute Kidney Injury

Key Points Acute kidney injury (AKI) is common in critically ill neonates. AKI affects survival, hospital expenditures, and long-term outcomes, independent of the severity of illness and comorbidities. Kidney development continues until 34 weeks’ gestation. Neonatal intensive care unit graduates, especially those with a history of AKI, those born prematurely, and those with intrauterine growth retardation, are at risk for long-term chronic kidney disease. New technological…

Developmental Abnormalities of the Genitourinary System

Key Points A voiding cystourethrogram should be performed in infants with high-grade hydronephrosis or bilateral hydronephrosis. Vesicoureteral reflux is more common in male infants and has a high rate of spontaneous resolution. Bladder exstrophy repairs are currently delayed to 3 months of age and performed with a dedicated team. Nadir creatinine predicts future renal function in posterior urethral valves. Current American Urological Association guidelines do not…

Developmental Abnormalities of the Kidneys

Key Points Kidney malformations account for 20% to 30% of all prenatally diagnosed developmental anomalies and are responsible for 31% of all childhood end-stage kidney disease. Patients with unilateral kidney agenesis are at risk for hypertension in childhood and chronic kidney disease in adulthood. Multicystic dysplastic kidney typically presents as a collection of large kidney cysts on ultrasound, and patients generally do well. Autosomal recessive polycystic…

Renal Development

Key Points Renal organogenesis is a complex interaction between gene stimulation of planned growth and complementary apoptosis, allowing appropriate development of the functioning renal organ system, vascular bed, and intertwined genital system. The renin-angiotensin system (RAS) is critical to normal renal development through delicate interaction between the maternal–placental RAS and the developing fetal RAS, which has central hormone-specific and sex-specific configurations that help the developing vascular…