American Academy of Pediatrics

Eosinophilic fasciitis (EF), or Shulman syndrome, first described in 1974, is a rare fibrosing disorder characterized by painful, symmetric swelling and progressive woody induration of skin and subcutaneous tissues. Although the pathogenesis remains unclear, EF is considered immune-mediated, often triggered by physical exertion, infections, or medications. Pediatric EF, a particularly uncommon subset, can exhibit distinct clinical features, including pronounced extracutaneous manifestations, unpredictable disease progression, and variable therapeutic responses. Clinical presentations range from rapidly advancing fibrosis leading to joint contractures to fluctuating inflammatory episodes. Diagnosis is challenging because of the absence of universal criteria, although peripheral eosinophilia, elevated inflammatory markers, and imaging findings support clinical suspicion. Definitive diagnosis depends on deep skin and fascial biopsy, revealing eosinophil-rich lymphoplasmacytic infiltrates and fibrosis. Management primarily relies on systemic corticosteroids, supplemented by steroid-sparing immunosuppressive medications in refractory cases. Early diagnosis and treatment are critical because untreated EF can cause irreversible fibrosis and significant functional impairment. The disease’s rarity, heterogeneous presentations, and unclear etiology further complicate clinical management. Recent insights suggest EF may involve intricate interactions among environmental triggers, immune dysregulation, and fibrotic remodeling. This review aims to provide an updated overview of pediatric EF, highlighting current knowledge on clinical manifestations, diagnosis, differential diagnosis, therapeutic approaches, and outcomes, supported by an illustrative case, with emphasis on areas needing further research.

The clinical practice guideline uses the new term “faltering weight” instead of “failure to thrive,” which has no precise definition, is stigmatizing and has unclear standards of care.

A female infant is born at 39 weeks and 3 days’ gestation via vaginal delivery to a 21-year-old Gravida 1 now Para 1 woman. The prenatal course was benign. The infant has an Apgar score of 7 and 9 at 1 and 5 minutes of age, respectively. In the nursery, the nurse contacts the neonatology fellow because she notices that the infant is having atypical eye movements in the right eye while feeding (Video 1). The infant has bilateral red reflexes, and the pupils are equal and reactive to light.What is the most likely diagnosis in this infant with atypical right-eye movements? Congenital reflexes, of the extraocular muscles, bilateralCongenital ptosis, left eyeDuane retraction syndrome, right eyeJaw-winking syndrome, right eyeMarcus Gunn pupil, right eyeMarin-Amat syndromeWhat is the next step in the management to address this neonate’s physical examination finding? Brain magnetic resonance imaging of the brainObservation and outpatient ophthalmology referral for further evaluationOcclusion of the left eye as the neonate grows older to prevent amblyopia from occurringSurgical procedure involving levator palpebrae superioris excision and frontalis suspensionQuestion 1: D. Jaw-winking syndrome, right eyeQuestion 2: B. Observation and outpatient ophthalmology referral for further evaluationThe infant in this video has right eyelid elevation, which is synkinetic with jaw movements while bottle feeding, and the elevation returns to a baseline ptosis in the right eye. These subtle findings, which are best appreciated from second 9 to second 11 of the video, are consistent with Marcus Gunn jaw-winking syndrome. The infant also has ptosis in the left eye, but this is unrelated.Marcus Gunn jaw-winking syndrome is a rare cause of congenital eyelid ptosis occurring in 2%–6% of patients; however, it is the most common form of congenital ocular synkinesis.1,2 Synkinesis is when an involuntary movement occurs while a specific facial movement is performed. Most occurrences are sporadic, but, in rare cases, it can be attributed to hereditary factors or a genetic condition.3The jaw-winking syndrome occurs when there is abnormal innervation of the striated portion of the levator palpebrae superioris muscle by the motor branch of the trigeminal nerve instead of the oculomotor nerve; thus, there is an atypical connection between the trigeminal and oculomotor nerves.1,3 In this syndrome, various movements such as sucking (as depicted in the video at second 9), chewing, swallowing, smiling, and whistling cause different degrees of eyelid elevation because of pterygoid muscle (muscle of mastication) stimulation.1,3 The anomaly is further characterized by concurrent movement of the ipsilateral pterygoid muscle with upper eyelid retraction followed by a quick return to the lower position.3 Most often, this phenomenon is unilateral and reported in the left eye; however, it can be bilateral, although the infant in this vignette has involvement of the right eye.1,3 Associated ophthalmologic disorders include amblyopia (ie, decrease in best-corrected visual acuity), strabismus (ie, abnormal eye axis alignment), and anisometropia (ie, difference in refractive power between eyes).1Typically, management is conservative if the condition is mild. Surgical intervention is reserved for severe cases (ie, eyelid elevation >5 mm) or when there is amblyopia1 and when there is notable “visual dysfunction of the affected eye with evident differences in bilateral visual function and ptosis with or without levator dysfunction.”3 Goals of treatment include correcting ptosis and either weakening or eliminating synkinesis.3 When moderate ptosis is present, surgical advancement of the levator muscle is performed by exposing, isolating, and resecting the muscle to advance it to the upper border of the tarsal plate (a thick dense connective tissue that gives structure to the eye) after confirming eyelid contour and height the muscle is sutured in place.2 Levator plication is also suggested to prevent increased synkinesis and entails incising and cauterizing the medial and lateral margins of the muscle before advancing the muscle.2 Levator palpebrae superioris excision and frontalis suspension is reserved for cases of moderate or severe eyelid movement.4Congenital fibrosis of the extraocular muscles results from hypoplastic nerve development. Multiple phenotypes exist but all include ptosis and limited eye movements.3 Neurons may fail to develop or are “misguided.” Sometimes there is abnormal innervation of the muscles by 1 of the other cranial nerves.5 Because of the lack of innervation, the muscles become atrophied and fibrosis occurs, causing limitation of movement.5Congenital ptosis presents with a drooping upper eyelid at birth, which leads to reduction in the vertical palpebral fissure.6 However, a diagnosis of congenital ptosis alone does not account for this neonate’s synkinetic eyelid and jaw movements.6 This infant does have a possible ptosis in the left eye, but this does not explain the other finding.Duane retraction syndrome presents as strabismus rather than synkinetic jaw and eyelid movements. This disorder is also known as “co-contraction” syndrome. It is a congenital complex strabismus with globe retraction and narrowed palpebral fissures.7 It results from failure of cranial nerve VI to innervate the lateral rectus muscle, which is then supplementally innervated by cranial nerve III.7 The enlargement or reduction of eyelid fissures is unrelated to mandibular movement; instead, it is associated with the outward and inward rotation of the affected eye.3Marin-Amat syndrome is a condition described as involuntary eye closure when the patient smiles or opens the mouth caused by an abnormal neural pathway between the trigeminal nerve and frontal zygomatic branch of the facial nerve (Figure 1A and 1B) instead of eyelid elevation, as seen with Marcus Gunn jaw-winking syndrome.3 This is an acquired facial synkinesis that results from peripheral facial palsy.3Marcus Gunn pupil is an abnormal pupillary reaction to light. In this condition, the normal pupil shows contraction of the pupil when exposed to bright light; however, an affected pupil demonstrates pupillary dilation after initial constriction under sustained illumination.8

A 12-year-old boy presents to his pediatrician's office with a complaint of swelling just below his left knee. There is no complaint of pain associated with the lump. He has no recollection of trauma. There is no history of redness or other skin changes related to this condition. The patient is not sure how long the lesion has been present but is concerned that it is not regressing. The swelling was insidious in presentation with no acute changes noted during the course. There has been no fever, rash, joint, or muscle aches, limp, or other constitutional symptoms. The patient has no other medical conditions or recent travel history and is up to date on immunizations.

A previously healthy and fully vaccinated 12-year-old boy from Trujillo, Peru, presented with an 8-day history of progressively worsening symptoms before his transfer and admission to our hospital. Approximately 1 month before symptom onset, he had visited a zoo in the rural outskirts of his city, where he fed and interacted with animals. His illness initially manifested with anorexia, myalgias, headache, abdominal pain, and fever, which was poorly responsive to antipyretics. By the fourth day of illness, he developed recurrent episodes of vomiting and signs of dehydration, prompting evaluation and admission to a local health care facility. During this initial hospitalization, he developed a purpuric rash on his lower limbs and chest. At that time, his vital signs were stable, and both his physical examination and mental status were unremarkable. Laboratory results revealed a leukocyte count of 8350/μL, 4% bands, hemoglobin (Hb) of 12 g/dL, platelet count of 267 ×...

This patient is a 3-month-old, full-term infant with no personal or family cardiac history who presented to the pediatrician with a chief complaint of increased fussiness and spit ups and was found to have a new murmur.

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Maple syrup urine disease (MSUD) is an inherited disorder of the branched-chain alpha-ketoacid dehydrogenase enzyme complex, which breaks down branched-chain amino acids (leucine, isoleucine, and valine). Deficiency in the activity of the enzyme complex causes an accumulation of leucine and ketoacids. Symptoms can include encephalopathy and central respiratory failure, likely due to a higher affinity for leucine over other amino acids and resultant uptake in the brain and nervous system. Elevated leucine can also cause renal sodium loss, resulting in cerebral edema. The disorder name comes from the distinctive and characteristic odor of maple syrup, which may be noticed in urine. Of note, families that are not culturally exposed to maple syrup may describe the odor as “sweet” or associate it with other breakfast foods. It is critical for the primary care clinician to understand that by the time this odor is detectable in an infant, the child is already...

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A 5-day-old male neonate born at 39 weeks’ gestation is brought to the hospital because of a fever measured at home. One day prior to the recorded fever, the neonate was fussy, and the parents reported intermittently needing to wake him for feeding. On examination, the infant was well-appearing with no cyanosis, respiratory distress, or tachypnea. All vital signs were typical, aside from a mildly low oxygen saturation of 93%. The neonatologist appreciated a continuous machine-like holosystolic murmur along the left sternal border with radiation to the left axilla. The infant was admitted to the neonatal intensive care unit, and a complete sepsis examination was performed including blood, urine, and cerebrospinal fluid cultures. The infant was given antibiotics.During the infant’s birth hospitalization, there were no concerns, and the infant had regular routine testing including the critical congenital heart disease (CCHD) screening. However, because of the loud murmur, a transthoracic echocardiogram was obtained (Videos 1–4), and the cardiologist noted a significant congenital heart defect. As the neonatologist, you meet with the family to discuss the diagnosis of the infant’s condition. The family would like to know about their son’s prognosis. What is the infant’s most likely congenital heart defect? Tetralogy of Fallot with major aortopulmonary collateral arteries.Transposition of the great arteries.Tricuspid atresia.Ventricular septal defect.What is the natural history of this infant’s most likely condition if the family elected to forego cardiac surgery? Affected infants will develop progressively worsening cyanosis and low survival rates.For those affected infants who pass congenital heart disease screening, a good prognosis is anticipated without a need for cardiac surgery.The majority of affected infants die within the first month of age without surgical intervention.Surgical intervention is futile for this cardiac abnormality.The constellation of echocardiographic findings of the infant in this vignette is consistent with tetralogy of Fallot (TOF) with major aortopulmonary collateral arteries (MAPCA). In the apical 4-chamber view (Video 1), as the view sweeps anteriorly toward the aorta, a large ventricular septal defect (VSD) is visualized, and the aorta is seen overriding the ventricular septum. In the parasternal long axis view (Video 2), the aorta is once again seen overriding the ventricular septum. The large VSD is also shown well in this view. Video 3 demonstrates 2 MAPCA that are arising from the undersurface of the aorta. Video 4 shows 1 MAPCA arising from the left main coronary artery, which is also noted to be dilated. Additionally, this patient also had an atrial septal defect, and the main pulmonary artery was noted to be atretic.TOF is the most common cyanotic congenital heart disease.1 The primary echocardiographic findings in patients with TOF is narrowing of the pulmonary outflow tract, overriding aorta, right ventricular hypertrophy, and a VSD.2 The anterior deviation of the outlet septum is a cardinal feature of TOF that can be easily visualized on echocardiograph.2 In patients with the most severe variant of TOF, the pulmonary valve can be atretic.2 In such patients, the lungs are entirely supplied by systemic arterial circulation via a patent ductus arteriosus, MAPCA, coronary arteries, or a combination of bronchial or pleural arteries. Multiple MAPCA most commonly branch from the descending aorta, and their diameter ranges from 1 mm to 20 mm, providing a stable source of pulmonary flow in newborns.2 However, nearly 60% of collaterals will progressively stenose, rendering pulmonary flow inadequate as patients grow.2The current standard of care for detection of CCHD involves newborn pulse oximetry screening, which involves obtaining pulse oximetry data from the right arm and a foot.3 Based on the most recent recommendations, an infant “passes” the screening if the oxygen saturations in both the arm and the leg are 95% or higher.3 If infants “fail” initial pulse oximetry screening, 1 retest is permitted. Although the specificity of pulse oximetry screening for CCHD is 99.9%, the sensitivity is only 76.3%.4 Therefore, up to a quarter of newborns with CCHD may not be detected by the pulse oximetry newborn screening.Neonates with TOF and MAPCA with a patent ductus arteriosus may have normal oxygen saturation levels soon after birth and pass the CCHD screening.2 However, when the patent ductus arteriosus closes and the collateral pulmonary blood flow is inadequate, an infant will present with clinical findings, such as a heart murmur, poor pulses, cyanosis, poor feeding, tachypnea, diaphoresis, and failure to thrive.2 Infants with TOF and MAPCA, with sufficiently developed collateral pulmonary flow, can have normal oxygen saturations and pass the CCHD screening.For those infants whose conditions are diagnosed as TOF with MAPCA, advanced imaging studies, such as a computed tomography scan, should be obtained to define the origin, size, and course of the MAPCA. Cardiac catheterization may also be performed to obtain hemodynamic assessment and further define the collaterals by angiography. Based on the size of the branch pulmonary arteries, the surgical approach may include a unifocalization procedure.2 In this procedure, the MAPCA are disconnected from the aorta and repositioned to connect with the right ventricle via a conduit, which creates a single and reliable source of pulmonary blood flow. If the branch pulmonary arteries are found to be significantly hypoplastic, then this procedure may require a staged approach by first placing a shunt, such as a modified Blalock-Taussig shunt, to augment the pulmonary blood flow. Once adequate growth of the branch pulmonary arteries is achieved, the surgeon may then proceed with the unifocalization procedure. Sixty-eight percent of patients with TOF and MAPCA undergo complete surgical repair, which has a 10-year survival rate of 92.5%.2Affected patients who are asymptomatic and do not undergo surgery have good 1-month survival rates because of adequate pulmonary blood flow. However, without cardiac intervention, the MAPCA become progressively stenotic, and affected infants develop worsening hypoxemia over time. The time window before an infant become hypoxemic varies widely owing to the number of MAPCA, location of MAPCA, genetic abnormalities, and patient-specific morbidities.5 If surgical intervention is not performed, a patient with TOF and MAPCA will progressively develop stenosis of the collaterals, leading to debilitating hypoxemia and low quality of life.6 Patients without repair have a survival rate as low as 24% at 10 years of age.7Question 1: A. Tetralogy of Fallot.Question 2: A. Affected infants will develop progressively worsening cyanosis and low survival rates.Although this patient has a VSD that is not the only abnormality noted on the echocardiogram, in patients with transposition of the great arteries, the aorta arises from the right ventricle, and the pulmonary artery arises from the left ventricle. In this patient, the echocardiographic images show that the aorta arises from the left ventricle and there is no main pulmonary artery. In patients with tricuspid atresia, the tricuspid valve is atretic and the right ventricle is hypoplastic. This patient’s echocardiograph shows a well-functioning tricuspid valve and an average sized right ventricle.American Board of Pediatrics Neonatal-Perinatal Content SpecificationUnderstand cardiovascular physiology.Know anatomy and development of the cardiovascular system.