Abstract: A 52-day-old infant presented to the emergency department with newly discovered fractures of the left arm, including fractures of the distal humerus and distal radius and an Extremity ulnar metaphyseal corner fracture. Initial presentation was concerning for nonaccidental trauma. Review of Fractures in an systems and physical examination findings suggested an alternative etiology. Further radiographic stu- Infant dies and laboratory results revealed the ultimate diagnosis. Keywords: infant; fractures; congenital syphilis; Rachel Cafferty†, Michelle Alletag† neurosyphilis former 35-week preterm twin, now 52-day-old female infant presented as a transferred patient to the emergency department (ED) for evaluation of newly Adiscovered fractures of the left arm, including fractures of the distal humerus and distal radius and an ulnar metaphyseal corner fracture. The infant had been in foster care since birth along with her twin brother. Her foster family denied any prenatal complications or familial medical conditions. The foster mother described 5 days where the infant had progressively stopped using her left arm. For approximately 24 hours prior to presentation, the infant had no purposeful movement of the left arm and increased irritability with any repositioning or manipulation of that extremity. The family denied any known trauma or injuries but suggested that her physical therapy session the week prior might have created the newly identified fractures. The infant was otherwise at her baseline, acting well and moving all her other extremities without difficulty. On review of systems, the foster mother noted that the infant † Pediatric Emergency Medicine, Children's has had a new rash for the past week, treated with hydrocortisone Hospital Colorado, Aurora, CO; †Pediatric ointment at the recommendation of a dermatologist. The rash Emergency Medicine Fellowship Program, Division of Pediatric Emergency Medicine, initially began as small erythematous papules on the buttocks and Assistant Professor of Pediatrics, subsequently spread to the chest and extremities despite use of University of Colorado School of Medicine, the topical steroid. The rash had also become more dusky and Children's Hospital Colorado, Aurora, CO. bruise-like in appearance. The infant had chronic nasal conges- Reprint requests and correspondence: tion and rhinorrhea since birth, for which parents were using an Rachel Cafferty, MD, Clinical Fellow, infant nasal aspirator daily. She had no cough, fever, difficulty Pediatric Emergency Medicine, Children's breathing, apnea, or cyanosis. The infant had no irritability, Hospital Colorado, 13123 E 16th Ave, lethargy, feeding intolerance, vomiting, or seizures. Aurora, CO 80045. The infant was born via cesarean delivery at 35 weeks’ gestation. She required 4 days in the newborn intensive care 1522-8401 unit for “respiratory concerns” and was subsequently discharged © 2019 Elsevier Inc. All rights reserved. to foster care. There was a maternal history of polysubstance use and hepatitis C but no known prenatal complications. The infant EXTREMITY FRACTURES IN AN INFANT / CAFFERTY AND ALLETAG • VOL. 20, NO. 4 1 2 VOL. 20, NO. 4 • EXTREMITY FRACTURES IN AN INFANT / CAFFERTY AND ALLETAG had otherwise been well without any prior medical dominal examination revealed hepatomegaly with concerns or previous surgeries. The foster parents the liver tip palpated 1 to 2 finger breaths below the had been applying topical hydrocortisone 0.5% right costal margin as well as a small, reducible ointment but no other daily medications. The infant umbilical hernia. There was no splenomegaly, and had no known medication allergies. She had not yet the abdomen was otherwise soft, nontender, and received her 2-month vaccination series but re- nondistended. Genital examination result was nor- ceived hepatitis B vaccine, vitamin K, and erythro- mal. Musculoskeletal examination showed no obvi- mycin after birth. She was living with her foster ous deformity, swelling, or tenderness, and the parents and twin brother since hospital discharge. infant was moving all extremities equally and The infant and her twin brother did not attend spontaneously, including the left upper extremity daycare and were exclusively cared for by their —with no deformity or paralysis noted. Skin foster parents and extended foster family members. findings were notable for several small erythema- The foster mother denied any concern for infant tous macules involving the extremities and trunk maltreatment in the home environment. (each approximately 1 cm in diameter) with a white On arrival to the ED, initial vital signs included a rim and with central clearing on some lesions but no temperature of 36.8°C, heart rate of 158 beats per obvious plaque or scale (Figure 1). Lesions on the minute, respiratory rate of 60 breaths per minute, palms and soles were also noted with a dusky red/ oxygen saturation of 100% on room air, and blood brown coloration that were blanching and nonpain- pressure of 99/87 mm Hg (while fussing). On ful to the touch (Figure 2). There was no mottling, examination, the infant was awake and alert. She jaundice, or bruising of the skin. The neurologic had a strong cry and was irritable with repositioning examination result was normal. but consoled appropriately when swaddled. Result Initial laboratory results were obtained includ- of head, eyes, ears, nose, and throat examination ing a complete blood count (CBC), comprehen- was unremarkable with a soft and flat anterior sive metabolic panel (CMP), lipase, type and fontanelle, no evidence of head injury, intact screen, urinalysis, and urine toxicology screen. frenulum, and moist mucosa. Cardiac and pulmo- The CBC was unremarkable with a normal white nary examination results were normal without bloodcellcount(12.3×103/μL), normal murmur or adventitious respiratory findings. Ab- hemoglobin (11.0 g/dL), and normal platelet Figure 1 Appearance of rash on trunk and extremities. Rash consists of small circumferential lesions with an erythematous base, white rim, and central clearing and no obvious plaque or scale. EXTREMITY FRACTURES IN AN INFANT / CAFFERTY AND ALLETAG • VOL. 20, NO. 4 3 Figure 2 Appearance of rash on palms and soles. Lesions are dusky red/brown in color, blanching, and nontender. count (307 × 103/μL). The CMP was notable for A head computed tomography (CT) scan mildly elevated potassium of 5.6 mmol/L without without contrast and skeletal survey were com- hemolysis, mildly elevated total bilirubin at pleted. The head CT was negative for skull 1.3 mg/dL, elevated alkaline phosphatase at fracture or intracranial hemorrhage. Skeletal 974 U/L, and elevated alanine aminotransferase survey was notable for diffuse osteopenia with (ALT) and aspartate aminotransferase (AST) bilateral, symmetrical periosteal reaction in mul- (112 U/L and 128 U/L, respectively). Lipase was tiple long bones as well as radiolucency at the normal at 45.5 U/L. Urinalysis was normal and metaphyses, bony irregularity (most pronounced urine toxicology screen was negative. in the tibia and fibula), and cupping of the distal 4 VOL. 20, NO. 4 • EXTREMITY FRACTURES IN AN INFANT / CAFFERTY AND ALLETAG fibula (Figure 3). There were no signs of healing or the combination of a skull fracture and intracra- callus seen on radiographic studies. nial injury is highly associated with abusive head Given the child's history, examination, and trauma.4 Specific fracture patterns that raise diagnostic findings, further laboratory testing was concern for NAT include posterior rib fractures, performed, which ultimately revealed the diagnosis. long bone fractures of the humerus and/or femur (especially in nonambulatory children), complex skull fractures, and metaphyseal corner fractures, as DIFFERENTIAL DIAGNOSIS previously discussed. These fracture patterns are In a nonambulatory infant with newly discovered also highly correlated with abusive head trauma.4 fracture(s), nonaccidental trauma (NAT) must be When managing infants or small children with considered. This infant had a metaphyseal corner multiple fractures, providers must also consider fracture (bucket handle fracture) which is the fracture inherited conditions or predisposing fracture risks. pattern most specific for NAT in infancy.1 Metaphyseal Osteogenesis imperfecta (OI), also known as brittle corner fractures occur almost exclusively in children bone disease, is a group of genetic disorders that less than 2 years of age and are the result of force primarily affect the bones. Mild cases of OI are applied during to-and-fro manipulation (ie, when characterized by fractures during childhood or infants and young children are shaken and cannot adolescence resulting from minor trauma and may protect their limbs, resulting in shearing forces to be associated with blue/gray discoloration of the extremities). The infant in this case also had elevated sclera as well as hearing loss in adulthood. More transaminases (ALT 112, AST 128) which are con- severe forms of OI (including lethal perinatal form cerning for occult intra-abdominal injury in cases of type II and types III to IX, XV, and XVI) result in NAT. Among children less than 60 months of age fractures in utero and frequent fractures from little referred for possible physical abuse, a threshold of N80 or no apparent cause after birth. Individuals with for both ALT and AST yields a sensitivity of 77% and a impaired or deficient bone mineralization (Rickets specificity of 82% for NAT.2 In 1 study sample, 26% of or osteomalacia)