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Screening Programs for EarlyDetection of Inborn Errors ofMetabolism in Neonates

KEY POINTS 1. Should protein in the diet be limited while waiting for results? No. It is not recommended to change the diet to a specialized diet without confirmation of results. However, if the baby is critically ill, it may be recommended to stop feeds due to instability. It is not recommended to stop all protein for more than 24 to 48 hours in patients with…

Most Frequently Encountered Inborn Errors of Metabolism

KEY POINTS 1. Inborn errors of metabolism (IEMs) are inherited conditions that block metabolic pathways. As a group, these conditions could be identified in 1 out of every 1500 infants. 2. We have suspected IEMs in infants during the early neonatal period if they have progressively worsening encephalopathy with lethargy, seizures, or coma that cannot be explained as due to asphyxia or infections; unexplained severe high…

Fractures and Musculoskeletal Infections in the Neonate

KEY POINTS 1. Fractures and musculoskeletal infections in neonates follow a distinct pathophysiology. 2. The clavicle is the most frequently injured long bone in newborns; the injury occurs most often during birth. These fractures heal and remodel well. In some infants, congenital pseudoarthrosis of the clavicle may need to be differentiated from fractures. 3. The humerus is the second most common long bone to be fractured…

Hip and Lower Extremity Deformities

KEY POINTS 1. Early diagnosis of abnormalities in the lower extremities is important for normal musculoskeletal and neurologic development. 2. Developmental dysplasia of the hip starts early in the embryonic period and continues after birth. It includes a range of abnormalities including acetabular dysplasia with deficient development of the acetabulum, subluxation with displacement but some maintained contact between the femoral head and acetabulum, and complete dislocation…

Newborn Spine Deformities

KEY POINTS 1. Spina bifida usually can be diagnosed prenatally with screening and in the early neonatal period by physical exam. Early diagnosis and intervention may improve outcomes. 2. Assessment of vertebral anomalies is best done in early childhood. The first available film should be analyzed and used for subsequent comparisons. 3. Associated anomalies occur with neonatal spine disorders. Additional tests other than those that serve…

Upper Extremity Conditionsin the Neonate

KEY POINTS 1. Congenital upper extremity differences are relatively rare but numerous and complex in nature. 2. Refer to a pediatric hand surgeon for management if an upper extremity congenital anomaly is suspected. 3. Some of the relatively more common conditions include syndactyly, polydactyly, and radial longitudinal deficiency or thumb hypoplasia. 4. Diagnosis is usually made based on clinical examination; however, further investigation may be warranted…

Nasal Obstruction in Newborn Infants

KEY POINTS 1. Nasal obstruction in neonates can cause respiratory distress and feeding difficulty, as newborns rely heavily on nasal breathing. 2. Mild cases of nasal obstruction can be observed, but severe obstructive lesions can be life-threatening and usually require early surgical intervention. 3. Further workup may be needed to identify any associated conditions and syndromes. 4. Neonatal rhinitis may respond to short-term intranasal corticosteroid treatment.…

Congenital Hearing Loss Seen in Neonates

KEY POINTS 1. All newborns must have a hearing screen by the age of 1 month, a diagnostic audiologic test at 3 months if they do not pass their hearing screen, and a referral for early intervention by 6 months if they are diagnosed with hearing loss. 2. Genetic factors are the most common causes of hearing loss, accounting for approximately 65% of congenital sensorineural hearing…

Pierre-Robin Sequence/Cleft Palate-Related Airway Obstruction Seen in Neonates

KEY POINTS 1. Pierre Robin sequence (PRS) is an association of congenital micrognathia, glossoptosis, and cleft palate that presents with tongue-based airway obstruction. 2. Infants with PRS can present with a host of findings ranging from severe respiratory distress to mild feeding difficulties. 3. Evaluation of an infant found to have PRS should include direct visualization of the airway with flexible laryngoscopy, assessment of adjunctive measures…

Stridor and Laryngotracheal Airway Obstruction in Newborns

KEY POINTS 1. Stridor is a sound caused by obstruction of the upper airway, usually from abnormalities within one or more of the subsites of the larynx (supraglottis, glottis, and subglottis) or in the trachea. 2. Stridor is a physical sign and not a diagnosis. It can be characterized by its presence during inspiration or expiration (or both), by its pitch and loudness, and by its…

Neonatal Tracheostomy

KEY POINTS 1. Chronic cardiopulmonary and neurologic disorders are the most common indications for neonatal tracheostomy, overtaking upper airway obstruction. 2. Noninvasive ventilation of neonates is likely reducing indications and the need for tracheostomy. 3. Neonatal tracheostomy is associated with high overall mortality and morbidity and lower quality of life. 4. Postoperative and long-term care is necessary to help mitigate and manage the increased risks associated…

Cataract and Glaucoma

KEY POINTS 1. Cataracts are inherited or sporadic; congenital or acquired; isolated or in a syndrome. 2. Size, density, and location of lens opacity influence its visual significance. 3. Timing of cataract surgery is important; earlier detection and surgery have better outcomes. 4. Primary congenital glaucoma is the most common form of glaucoma in infants. It usually requires surgical treatment. 5. Some forms of infantile glaucoma…

Developmental Anomalies of the Cornea and Iris in Neonates

KEY POINTS 1. Causes of primary neonatal corneal opacification include congenital hereditary endothelial dystrophy (CHED), posterior polymorphous corneal dystrophy, congenital hereditary stromal dystrophy (CHED), and corneal dermoid. Secondary causes include trauma (e.g., forceps), infection, metabolic disorders, and congenital glaucoma. Corneal opacification requires further workup to diagnose the underlying cause and to help plan any surgical intervention. 2. Primary megalocornea is defined as a horizontal corneal diameter…

Developmental Anomalies of the Globe and Ocular Adnexa in Neonates

KEY POINTS 1. Major structural abnormalities of the eye in neonates include anophthalmos (no ocular tissues), microphthalmos (small, disorganized eye), nanophthalmos (small but relatively normally structured eye), and buphthalmos (whole eye is enlarged). 2. Major eyelid defects in neonates include complete fusion of the upper and lower eyelids and a “hidden” eye (cryptophthalmos), focal fusion of the upper and lower eyelids (ankyloblepharon), focal defects in either…

Retinopathy of Prematurity

KEY POINTS 1. Retinopathy of prematurity (ROP) is a disease characterized by altered vascularization of the immature retina of premature infants and is common cause of reduced vision in the developed world. 2. The first, obliterative phase of ROP occurs from birth to a postmenstrual age of about 30 to 32 weeks and is characterized by suppressed growth/obliteration of retinal vessels due to relative hyperoxia. 3.…

Altered Development of the Kidneys and the Urinary Tract

KEY POINTS 1. Congenital renal anomalies account for one-fourth of all congenital anomalies. 2. Early pre- or postnatal detection can facilitate appropriate, timely management. 3. Many infants will require coordinated, multispecialty treatment. 4. Renal abnormalities are being increasingly recognized in four broad groups: (1) congenital anomalies of the kidney and the urinary tract (CAKUTs), such as renal agenesis, kidney hypodysplasia, and abnormalities of the draining systems;…

Neonatal Hypertension

KEY POINTS 1. Blood pressure should be measured with the proper cuff size on the right upper arm with attention to technique when using oscillometric devices in neonates. 2. Blood pressure is rapidly changing during the first weeks of life, especially in premature neonates, and measured values need to be compared with appropriate normal values. 3. In premature infants, the most common causes of hypertension are…

Renal Replacement Therapy

KEY POINTS 1. Renal replacement therapy (RRT) is an effective therapy for treating neonates with acute kidney injury (AKI) and inborn errors of metabolism with hyperammonemia. 2. Peritoneal dialysis is used most frequently to treat AKI in neonates, although intermittent hemodialysis and continuous renal replacement therapy (CRRT) are important alternatives. 3. Timely initiation of RRT may improve outcomes in neonates with AKI and volume overload. 4.…

Neonatal Acute Kidney Injury

KEY POINTS 1. Acute kidney injury (AKI), previously referred to as “acute renal failure”, is defined by an abrupt change in the glomerular filtration rate with rising serum creatinine levels or decrease in urine output. AKI is associated with adverse outcomes. 2. The newborn kidney undergoes a number of physiologic and functional changes after birth that impact its function and increase the susceptibility to AKI. 3.…

Immunodeficiency Syndromes Seen During the Neonatal Period

KEY POINTS 1. At birth, the fetal-neonatal immune system gets activated. It is critical for survival to recognize and eliminate all the potentially dangerous pathogens in the infant’s external and its own enteric environment. 2. The innate arm is particularly necessary because the adaptive immunity is still developing. 3. In immunodeficiency states, the aberrant development of the immune system puts the infant at risk of infections,…