Extra-axial haemorrhages in young children with skull fractures: abuse or accident?

OBJECTIVE: Infant and toddler subdural haemorrhages (SDH) are often considered indicative of abuse or major trauma. However, accidental impact events, such as falls, cause contact extra-axial haemorrhages (EAHs). The current study sought to determine frequency and clinical behaviour of EAHs with infant and toddler accidental and abusive skull fractures. PATIENTS AND METHODS: Children aged <4 years with accidental skull fractures and abusive fractures identified by CT at two paediatric tertiary care centres. Clinical data were abstracted by child abuse paediatricians and images were reviewed by paediatric radiologists. Data were analysed using univariate and multivariate logistic regression as well as descriptive statistics. RESULTS: Among 227 subjects, 86 (37.9%) had EAHs. EAH was present in 73 (34.8%) accidental and 13 (76.5%) of the abusive injuries. Intracranial haemorrhage rates were not different for children with major or minor accidents but were fewer than abused. EAH was equally common with falls <4 and >4 ft. EAH depths did not differ by mechanism, but 69% of accidental EAHs were localised solely at fracture sites vs 38% abuse. Widespread and multifocal EAHs were more common with abuse. Children with abuse or major accidental injuries presented with lower initial Glasgow Coma Scales than those with minor accidents. Abused children had initial loss of consciousness more often than those with either minor or major accidents. CONCLUSIONS: Simple contact EAHs were common among children with minor and major accidental skull fractures. Accidental EAHs were more localised with less neurological dysfunction than abusive.

Are Complex Skull Fractures Indicative of Either Child Abuse or Major Trauma in the Era of 3-Dimensional Computed Tomography Imaging?

OBJECTIVE: The aim of the study was to determine whether complex skull fractures are more indicative of child abuse or major trauma than simple skull fractures. DESIGN: This is a retrospective chart and imaging review of children diagnosed with a skull fracture. Subjects were from 2 pediatric tertiary care centers. Children younger than 4 years who underwent a head computed tomography with 3-dimensional rendering were included. We reviewed the medical records and imaging for type of skull fracture, abuse findings, and reported mechanism of injury. A complex skull fracture was defined as multiple fractures of a single skull bone, fractures of more than 1 skull bone, a nonlinear fracture, or diastasis of greater than 3 mm. Abuse versus accident was determined at the time of the initial evaluation with child abuse physician team confirmation. RESULTS: From 2011 to 2012, 287 subjects were identified by International Classification of Diseases, Ninth Revision, code. The 147 subjects with a cranial vault fracture and available 3-dimensional computed tomography composed this study's subjects. The average age was 12.3 months. Seventy four (50.3%) had complex and 73 (49.7%) had simple fractures. Abuse was determined in 6 subjects (4.1%), and a determination could not be made for 5 subjects. Adding abused children from 2013 to 2014 yielded 15 abused subjects. Twelve of the abused children (80%) had complex fractures; more than the 66 (48.5%) of 136 accidentally injured children (P = 0.001; relative risk = 1.65 [1.21-2.24]). However, among children with a complex fracture, the positive predictive value for abuse was only 7%. CONCLUSIONS: Complex skull fractures frequently occur from accidental injuries. This study suggests that the presence of complex skull fractures should not be used alone when making a determination of abuse.

Fracture-Associated Bruising and Soft Tissue Swelling in Young Children With Skull Fractures: How Sensitive Are They to Fracture Presence?

OBJECTIVES: The aim of this study was to determine how reliable scalp bruising and soft tissue swelling/cephalohematomas (STS) are for underlying young child skull fractures. METHODS: This was a retrospective clinical and imaging review from 2011 to 2012 of children younger than 4 years with skull fractures from 2 tertiary care hospitals. Imaging was reread by 3 pediatric radiologists. Descriptive statistics were utilized. The retrospective review had institutional review board approval. RESULTS: We identified 218 subjects for review: 210 unintentional and 8 abusive. One hundred forty-three had available 3-dimensional computed tomography reconstructions: 136 unintentional and 7 abused. Two-thirds were younger than 1 year. Twelve subjects had visible scalp bruising, but 73% had clinically and 93% radiologically apparent fracture-associated STS. There was no difference in clinical STS with simple (79%) versus complex (68%) fractures. Nor was there difference in subjects with fractures from minor (77%) versus major (70%) trauma. Unintentionally injured infants did not differ from abused for detectable STS (74% vs 50%). Parietal and frontal bones most frequently sustained fractures and most consistently had associated STS. CONCLUSIONS: Clinically apparent STS is present in approximately three-fourths of children with skull fractures. It may not be important to consistently identify skull fractures in unintentionally injured children. Point-of-care ultrasound may be adequate. For abuse concerns, it is important to identify skull fractures as evidence of cranial impacts and intracranial hemorrhages. The most sensitive, widely available imaging technique, cranial computed tomography scan with 3-dimensional skull reconstruction, should be utilized. Scalp bruising is present in a minority of young children with skull fractures. Its absence does not exclude cranial impact injury.

Delays in care seeking for young children with accidental skull fractures are common.

AIM: We sought to determine the frequency and patterns of delayed medical care seeking for young children with skull fractures. METHODS: We identified accidental skull fractures <4 years old, 2011-2012. Child abuse paediatricians abstracted retrospective data and paediatric radiologists re-reviewed images. 'Delays' were defined as presentation at ≥6 h. 'Minor accidents' included falls <4 feet and low force trauma, while 'major accidents' included higher height falls and major force events. We studied the frequency and duration of care delays, the signs or symptoms leading to care, and the duration of delays after signs or symptoms developed. RESULTS: Two hundred and ten children had accidental skull fractures. Delays were less likely with major accidents (4.9%), than with minor accidents (25.8%) (RR = 0.32 [0.15-0.70]). Children came to care for scalp swelling (STS) (39%), the injury event (36.2%), altered consciousness (15.2%) and vomiting (10.5%). Delayed onset of STS (78.6%) caused most delayed care. Early STS was firm, (17.6%) versus delayed (5.0%), as opposed to soft or fluctuant. CONCLUSION: Delayed care seeking is common for minor, but not major accidental infant and toddler skull fractures. Most followed delayed onset of signs and symptoms. Delayed care seeking alone should not imply child abuse.

Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.

Pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene are responsible for a broad spectrum of skeletal dysplasias, including achondroplasia (ACH). The classic phenotype of ACH is caused by two highly prevalent mutations, c.1138G > A and c.1138G > C (p.Gly380Arg). In the homozygous state, these variant results in a severe skeletal dysplasia, neurologic deficits, and early demise from respiratory insufficiency. Although homozygous biallelic mutations have been reported in patients with ACH in combination with hypochondroplasia or other dominant skeletal dysplasias, thus far, no cases of heterozygous biallelic pathogenic ACH-related variants in FGFR3 have been reported. We describe a novel phenotype of an infant with two ACH-related mutations in FGFR3, p.Gly380Arg and p.Ser344Cys. Discordant features from classic ACH include atypical radiographic findings, severe obstructive sleep apnea, and focal, migrating seizures. We also report the long-term clinical course of her father, who harbors the p.Ser344Cys mutation that has only been reported once previously in a Japanese patient. The phenotype of heterozygous biallelic mutations in FGFR3 associated with ACH is variable, underscoring the importance of recognition and accurate diagnosis to ensure appropriate management.

Nasoduodenal tube placement: Are two views necessary to confirm position?

BACKGROUND: Nasoduodenal tube (NDT) placement is typically performed at the bedside and two-view abdominal radiographs are usually used to confirm tube position. Anecdotally, in most instances the lateral view is unnecessary and utilizes more than twice the radiation than an anteroposterior (AP) view alone. OBJECTIVE: We hypothesize that NDT location can be determined using only the AP view, with the NDT position determined on two views utilized as the gold standard. MATERIALS AND METHODS: A search was performed for all two- or three-view abdominal radiographs from September 2012 to September 2013 with the phrase "ND tube" in the reason field of the requisition. These studies were independently reviewed by two radiologists and scored for anatomical tube position in three different scenarios: AP view alone, the lateral view alone, and both views together, with the latter serving as the gold standard. The anatomical scores were subsequently grouped to reflect clinically significant scenarios. Comparative analysis was performed with the original and clinically grouped scores. RESULTS: A total of 102 patients and 306 separate two-view exams were evaluated. Of the 102 patients, 55 had at least two separate exams. Across raters, concordances of AP and lateral scores relative to the gold standard assessment were 88% and 73% for anatomical scores, and 91.5% and 86.4% for clinically grouped data. Trend differences for fewer errors were found with the AP compared to the lateral view. There were statistically significant group differences with a greater number of false-negative errors in the lateral data set. No clear differences were found when comparing AP and lateral ratings for false-positive errors. Upon review of the common errors, we determined a few imaging findings on AP radiographs that can help assess the need for an additional lateral view. CONCLUSION: A single AP view is sufficient to determine the NDT position in most cases. Two views should be reserved for cases where the NDT position cannot be definitively assessed. Transitioning toward the single AP view to evaluate the NDT position could have immediate consequences for dose reduction.

The etiology and significance of fractures in infants and young children: a critical multidisciplinary review.

This paper addresses significant misconceptions regarding the etiology of fractures in infants and young children in cases of suspected child abuse. This consensus statement, supported by the Child Abuse Committee and endorsed by the Board of Directors of the Society for Pediatric Radiology, synthesizes the relevant scientific data distinguishing clinical, radiologic and laboratory findings of metabolic disease from findings in abusive injury. This paper discusses medically established epidemiology and etiologies of childhood fractures in infants and young children. The authors also review the body of evidence on the role of vitamin D in bone health and the relationship between vitamin D and fractures. Finally, the authors discuss how courts should properly assess, use, and limit medical evidence and medical opinion testimony in criminal and civil child abuse cases to accomplish optimal care and protection of the children in these cases.

Three-Dimensional Computed Tomography Skull Reconstructions as an Aid to Child Abuse Evaluations.

OBJECTIVES: Skull fractures can be difficult to recognize on radiographs and axial computed tomography (CT) bone windows. Missed findings may delay abuse diagnosis. The role of three-dimensional (3-D) reconstructions in child abuse evaluations was retrospectively evaluated. METHODS: Twelve exemplary cases between August 2006 and July 2009 are described. All, except 2 medical-legal cases, were clinical abuse consultations. With the use of a 1-to-3 scale, ease and accuracy of interpretation of findings between plain films, bone windows, and 3-D CT images were independently assessed by 2 radiologists. RESULTS: In 7 cases, skull fractures were missed on initial review of skull films and/or bone windows. Three children sustained additional abusive injury before 3-D CT reconstructions demonstrated subtle skull fractures, though imaged, were missed on initial readings. Three children with initially unrecognized fractures had timely 3-D reconstructions confirming fractures, allowing protective intervention before additional injury. An unrecognized ping-pong fracture was discovered on 3-D reconstructions with an inflicted subdural hemorrhage, defining the injury as an impact. Two 3-Ds demonstrated communication of biparietal fractures along the sagittal suture. This changed interpretation to single, rather than 2 separate, concerning impacts. Three potential skull fractures were found to represent large sutural bones. In all cases, ease and accuracy of interpretation scores were highest for 3-D CT. CONCLUSIONS: Without increasing patient radiation exposure, 3-D CT reconstructions may reveal previously unrecognized skull fractures, potentially allowing abuse diagnosis before additional injury. They may clarify normal skull variants and affirm accidental injury causes. We now routinely include 3-D reconstructions on cranial CTs for children younger than 3 years.

Frequency of intrathoracic injuries in children younger than 3 years with rib fractures.

BACKGROUND: Research documents that among children admitted to trauma intensive care units the number of rib fractures sustained indicates the child's likelihood of having and severity of intrathoracic injury. This has been misused in court to argue that children with multiple rib fractures who lack intrathoracic injury have abnormal bone fragility rather than inflicted injury. OBJECTIVE: To determine frequency of intrathoracic injuries in children younger than 3 years with rib fractures in cases of child abuse and accidental trauma. MATERIALS AND METHODS: We conducted a retrospective review of rib fractures caused by documented abuse or accidents from 2003 to 2010 in children treated at Seattle Children's Hospital and Harborview Medical Center. A senior pediatric radiologist and radiology fellow independently reviewed the imaging. Children with bone demineralization were excluded. Descriptive and simple comparative statistics were used. RESULTS: Seventy-two percent (47/65) of infants and toddlers with rib fractures were abused. Abused children had more rib fractures than accidentally injured children (5.55 vs. 3.11, P = 0.012). However intrathoracic injuries as a whole (55.6% vs. 12.8%, P < 0.001) and individual types of intrathoracic injuries were more common with accidents. Rates of other thoracic cage injuries did not differ substantially (27.8% accidents vs. 12.8% abuse, P = 0.064). Intracranial and intra-abdominal injuries and skull fractures were equally frequent, but other extrathoracic fractures were more common with abuse (70.2% vs. 16.7%, P < 0.001). CONCLUSIONS: Abused infants and toddlers have fewer intrathoracic injuries but more rib fractures than accidentally injured peers. This likely reflects different injury mechanics. Lack of intrathoracic injuries in abused children with rib fractures does not imply bone fragility.

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.

Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals also have the skeletal dysplasia Jeune asphyxiating thoracic dystrophy (JATD). Here, we have identified biallelic truncating CSPP1 (centrosome and spindle pole associated protein 1) mutations in 19 JBTS-affected individuals, four of whom also have features of JATD. CSPP1 mutations explain ∼5% of JBTS in our cohort, and despite truncating mutations in all affected individuals, the range of phenotypic severity is broad. Morpholino knockdown of cspp1 in zebrafish caused phenotypes reported in other zebrafish models of JBTS (curved body shape, pronephric cysts, and cerebellar abnormalities) and reduced ciliary localization of Arl13b, further supporting loss of CSPP1 function as a cause of JBTS. Fibroblasts from affected individuals with CSPP1 mutations showed reduced numbers of primary cilia and/or short primary cilia, as well as reduced axonemal localization of ciliary proteins ARL13B and adenylyl cyclase III. In summary, CSPP1 mutations are a major cause of the Joubert-Jeune phenotype in humans; however, the mechanism by which these mutations lead to both JBTS and JATD remains unknown.

Ellis-van Creveld syndrome: its history.

The story of Ellis-van Creveld syndrome is one of serendipity. By chance, Simon van Creveld and Richard Ellis purportedly met on a train and combined their independently encountered patients with short stature, dental anomalies and polydactyly into one landmark publication in 1940. They included a patient used in work published previously by Rustin McIntosh without naming McIntosh as a coauthor. This patient was followed radiologically by Caffey for nearly two decades. In 1964, Victor McKusick felt compelled to investigate a brief report in an obscure pharmaceutical journal on an unusual geographic cluster of short-statured Amish patients in Pennsylvania. This review highlights the lives of the individuals involved in the discovery of Ellis-van Creveld syndrome in their historic context.

Copper deficiency presenting as metabolic bone disease in extremely low birth weight, short-gut infants.

Copper deficiency can cause bone lesions in infants, which might be confused with child abuse. Two extremely low birth weight preterm infants had complicated medical courses requiring prolonged parenteral nutrition for short-gut syndrome, which led to the development of cholestasis. Both had spent their entire lives in the hospital. They had been on prolonged ventilator support for chronic lung disease. They developed signs of copper deficiency between 5 and 6 months of age, initially raising child abuse concerns. Musculoskeletal discomfort led to the recognition of radiographic findings of metabolic bone disease. Included were osteoporosis, metaphyseal changes, and physeal disruptions. Copper levels were low; both low copper parenteral nutrition and gut losses from refeeding diarrhea likely contributed to their deficiency. Therapeutic supplementation with copper corrected their deficits and clinical and radiologic findings. The information from these cases, in particular, their radiologic findings, indicate the need to monitor copper status in at-risk premature infants. These findings may aid prevention and earlier recognition of copper deficiency. Their specific radiologic and clinical findings should aid differentiation of such children from abused infants.

Tumorlike conditions of the pleura.

Tumorlike conditions of the pleura are rare, but diagnosis is facilitated by recognizing certain imaging patterns and interpreting them in the clinical context. A tumorlike condition of the pleura is any nonneoplastic lesion of the pleura itself, or within the pleural space, that resembles a tumor. An approach to diagnosis of the tumorlike conditions of the pleura is provided, and these conditions are grouped into focal or diffuse conditions, with an emphasis on specific imaging features. Focal tumorlike conditions of the pleura include pleural plaque, thoracic splenosis, thoracic endometriosis causing catamenial pneumothorax, and pseudotumor caused by pleural effusion. Thoracic splenosis should be considered in a patient who has a healed left lower rib fracture, an absent spleen, and left lower pleural nodules. Thoracic endometriosis with catamenial pneumothorax should be considered in a woman of childbearing age who presents with right scapular pain and recurrent pneumothorax occurring at or around the onset of menses. Extrapleural hematoma is a nonpleural mimic of pleural tumor and shares some imaging features with focal tumorlike conditions of the pleura, despite residing in the extrapleural space. Diffuse tumorlike conditions of the pleura include diffuse pleural thickening and rare conditions such as Erdheim-Chester disease and diffuse pulmonary lymphangiomatosis. Erdheim-Chester disease should be considered when diffuse pleural thickening occurs with a perirenal soft-tissue halo or distal femoral sclerosis. Diffuse pulmonary lymphangiomatosis should be considered when findings include diffuse pleural thickening, interlobular septal and peribronchovascular interstitial thickening, and mediastinal fat infiltration limited to the thorax and when these findings persist despite diuretic therapy.

Fetal and neonatal bone health: update on bone growth and manifestations in health and disease.

The neonatal period is classically described as the first 28 days of life, but owing to the fact that changes in skeletal tissue occur at a somewhat slower pace than those of other organ systems, events of the first few months are considered herein. Neonatal bone health is a problem of growing interest and concern because of the increasing recognition of its impact upon childhood, adolescent and even adult bone health. Osteoporosis in adulthood often has its roots in childhood and some forms may be prevented by proper attention to neonatal and childhood bone health. The premature infant likely suffers lifelong decreased bone mineral density as a result of its early birth and lack of adequate mineral stores that are typically present in full-term infants. Adequate embryogenesis, growth and development of the skeletal system are multifactorial and under the influence of a host of genes, growth factors and enzymes. The evaluation of skeletal dysplasias and their recognition are beyond the scope of this paper and will not be considered in this discussion. Here the focus will be on the adequacy of mineralization and metabolic aspects of the growth and development of the fetal and neonatal skeleton, the effect of birth, both preterm and term, maternal illness and health as well as infant diseases.

Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz.

This historical report focuses on the first clinical description of pseudoachondroplasia and its radiographic findings. Only half a century ago, pseudoachondroplasia was recognized as a genetic disorder with a distinct but variable phenotype of short stature, normal facial features, and progressive joint problems starting in adolescence. Radiologically, the disease is particularly intriguing because the patients appear normal at birth. The patients develop the typical gait disturbances when they begin to walk. Radiographs show the characteristic anterior tongue-shaped lumbar vertebral body changes that develop after the first year of life. This account presents the most well-known group of individuals affected by pseudoachondroplasia, the Ovitz family, who narrowly escaped death in the concentration camp of Auschwitz in 1944 because of SS physician Dr. Josef Mengele's fascination with dwarfs. It was not until 1995 that the underlying genetic defect in the COMP gene was identified on chromosome 19.

EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.

Metachondromatosis (MC) and hereditary multiple osteochondromas (HMO) are thought to be distinct disorders, each with characteristic x-ray and clinical features. Radiographic differences are the current mainstay of differential diagnosis. Both disorders are autosomal dominant, but the majority of patients with HMO have mutations in EXT-1 or EXT 2 genes. The genetic defect in MC is unknown, although recent studies indicate a possible identifiable mutation. The cancer risk in HMO is thought to be greater than in MC, although the small number of cases make such conjecture imprecise. The purpose of this report is to review existing literature and examine whether radiographic findings in HMO and MC can be reliable as a stand-alone means of differential diagnosis. Three members of a multi-generational family with an autosomal dominant exostosis syndrome were studied by clinical examination and complete skeletal survey. The roentgenographic characteristics of all osteochondromas were analyzed. The father underwent gene sequencing for EXT-1 and EXT-2, which revealed a novel EXT-2 mutation. Typical radiographic and clinical findings of both HMO and MC were seen throughout the family as well as in individuals. These family study findings contradict many of the long-standing clinical and x-ray diagnostic criteria for differentiating MC from HMO. The phenotypic crossover between the two conditions in this family, and results of genetic analysis, suggest that in the absence of a definitive genetic diagnosis, radiographic and clinical diagnosis of past and future cases HMO and MC may not be as reliable as previously assumed.

Fetal diagnosis of spondylocostal dysplasia: Limits of conventional fetal ultrasound & MRI in diagnosing anomalies.

We present a case of postnatally recognized spondylocostal dysplasia that was prenatally misdiagnosed as fetal thoracolumbar kyphoscoliosis secondary to spinal fusion anomalies. Neither two-dimensional ultrasound nor MRI identified the rib anomalies, nor did they allow for correct identification of the more compromised lung. Spondylocostal and spondylothoracic dysostoses involve rib deformities and distortion of the bony thorax that lead to pulmonary compromise. Correct prenatal diagnosis might not be made with standard fetal imaging. Three-dimensional ultrasound should be pursued (when available) upon recognition of a thoracic scoliosis to fully assess rib development.

The utility of alkaline phosphatase measurement as a screening test for rickets in breast-fed infants and toddlers: a study from the puget sound pediatric research network.

To determine if alkaline phosphatase (AP) levels are a useful screening test for rickets, the authors measured serum AP levels in children 6 to 15 months old who were predominantly breast-fed for > 6 months without vitamin D supplementation. Radiographs were obtained on children with elevated AP levels to determine the presence of rickets. AP levels were obtained on 246 children; levels were elevated in 33 (13.4%). Rickets was present in 4 of 18 children with elevated levels on whom radiographs were obtained. The sensitivity and specificity of AP levels as a test for rickets was maximal at a cutoff value of 552 U/L. Using this cutoff value, the specificity of AP levels as a test for rickets was 97.4%, and the positive predictive value (PPV) was 40.0%. These results suggest that AP levels may be a useful screening test for rickets in children who are breast-fed for prolonged periods without vitamin D supplementation.

Fractures in infants and toddlers with rickets.

BACKGROUND: Rickets affects young infants and toddlers. However, there is a paucity of literature regarding the types of fractures that occur in rachitic patients. OBJECTIVE: To evaluate the age of patients at which radiographically evident rickets occurs, and to characterize the age incidence and fractures that are observed in infants and toddlers with radiographically evident rickets. MATERIALS AND METHODS: A retrospective study of children younger than 24 months was performed. Clinical data and radiographs were reviewed. Radiographs obtained within 1 month of the diagnosis were evaluated for the presence or absence of osteopenia, presence or absence of fraying-cupping, and presence and characterization of fractures. RESULTS: After exclusion criteria were applied, 45 children were included in the study. Children with rickets evident by radiograph were in the age range of 2-24 months. Fractures were present in 17.5% of the study group, exclusively in mobile infants and toddlers. Fracture types included transverse long bone fractures, anterior and anterior-lateral rib fractures, and metaphyseal fractures. All fractures occurred exclusively in patients with severe, overtly evident rickets. CONCLUSION: Fractures occur in older infants and toddlers with overt rickets and can be seen by radiograph. Fractures do not resemble high-risk non-accidental trauma fractures.