Selective rickets from localized advanced maturation-a case report.

An unusual cause of rickets is illustrated by a patient with infantile multisystem inflammatory disease who, by age 2 years and 4 months, developed striking radiographic and clinical rickets restricted to those joints involved by the inflammatory process. The locally increased vascularity from his inflammation led to increased maturation at those sites so rapid as to override the usual enchondral calcification, thus causing a rickets pattern. Other sites, such as the proximal humeri, lacking any inflammation, showed no increased maturation rate and did not manifest local rickets. Rapid local bone maturation may cause localized rickets.

Concave distal end of ulna metaphysis alone is not a sign of rickets.

BACKGROUND: Statements have been made in the literature and in legal testimony that misrepresent the radiographic finding of concave distal end of the ulnar metaphysis. OBJECTIVE: To demonstrate that a concave distal end of the ossified ulna in infancy can be normal. MATERIALS AND METHODS: Eighty distal wrists of randomly selected infants in the first year of life with radiographic evidence that ruled out rickets were reviewed. RESULTS: In 16 of the cases (20%), mild or moderate concavity of the distal end of the ulna was seen. An intact metaphyseal collar of distal radius or ulna confirmed the absence of radiographic rickets. CONCLUSION: The finding of 20% of concave distal ulnas in the first year of life confirms the widely acknowledged statements that concave distal end of the ulna alone is not indicative of rickets. Statements to the contrary are not justified.

Normal spinous process metaphyseal-equivalent lucency simulating infant abuse fractures.

We report a normal radiographic finding that may be mistaken for child abuse trauma in the posterior thoracolumbar spinous processes of young infants after the first week of life. A lucency paralleling the posterior margin of the ossified spinous process is equivalent to the metaphyseal lucent bands seen normally after about a week of the child's age at the ends of long tubular bones. A similar lucency is seen just under the growth plate of vertebral bodies at that early age, giving the bone-in-bone appearance. Our index case was imaged at 3 weeks and then at 5 weeks of age, with no evidence of periosteal reaction or endosteal callus on that follow-up study, confirming the lack of fractures.

Fracture or Not: An Easily Mistaken Benign Finding in a Tuberous Sclerosis Patient.

Tuberous sclerosis (TSC) is a rare autosomal dominant disorder that can affect multiple organ systems, including the brain, heart, lungs, and skin. Cutaneous manifestations are common, including ungual fibromas, however, these may be mistaken for other pathologies. Here, we present the case of a 14-year-old with TSC complaining of traumatic left little finger pain. Radiographic evaluation revealed cortical scalloping of the nailbed, concerning for a non-displaced fracture. Given the history of TSC, however, this defect may have also represented a periungual fibroma. The patient subsequently underwent conservative management and an eight-month radiographic follow-up showed no osseous remodeling, supporting the diagnosis of periungual fibroma. It is imperative for clinicians to understand the cutaneous manifestations of TSC to aid in proper diagnosis and avoidance of unnecessary treatment. In this case, interval follow-up confirmed the diagnosis and excluded fracture.

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.

Early radiology and the National Medical Association.

Both the discovery of the x-ray and the founding of the National Medical Association (NMA) occurred in 1895. Radiologists have participated importantly in the NMA since the lecture of Dr Marcus F. Wheatland at the 1909 Annual Meeting in Boston, Massachusetts, which led to his election as president of the NMA for the following year. More recently, Dr Tracy M. Walton was president of the NMA in its centennial year. This article details early and continued participation in the NMA by radiologists, including the founding of the Section on Radiology in 1949, with its first chairman, Dr William E. Allen, Jr, longtime leader in radiology, the section, and the NMA.

Systematic evaluation of bone dysplasias by the paediatric radiologist.

A bone dysplasia is often a difficult diagnosis for the radiologist to achieve. However, principles of interpretation can make the task both interesting and often straightforward. In general, one of the factors of bone growth is in some way impaired, yielding an abnormal skeleton. To analyse what is impaired may greatly assist in narrowing the diagnostic possibilities. In most dysplasias, the affected growth factor is either one of enchondral or membranous bone growth. When interpreting bone radiographs for dysplasia one should be aware that aberrant positioning, that may lead to foreshortening in space, may simulate impaired growth in time. Dysplasia diagnosis for the paediatric radiologist is an art, but it can also be a science (as well as a pattern recognition challenge).

Umbilical vein catheterization--appropriate and inappropriate placement.

Because of the dangers of inappropriate placement of an umbilical vein catheter (UVC), knowledge of the proper pathway and tip localization is important. The acceptable ductus venosus/hepatic vein/inferior vena cava confluence location is compared to inappropriate localizations below and above the diaphragm, with emphasis on confusion about the position when the UVC tip is in the umbilical vein itself, including the umbilical vein recess. Small amounts of gas can inadvertently accompany initial UVC placement and provide landmarks for position evaluation.

Stress fractures of ankle and wrist in childhood: nature and frequency.

BACKGROUND: Stress fractures of many etiologies are found not infrequently in various tarsal bones but are less commonly recognized in carpal bones. OBJECTIVE: To assess the distribution of tarsal and carpal stress fractures. MATERIALS AND METHODS: During the last three decades, the senior author collected locations of tarsal and carpal bone stress fracture callus seen on plain radiographs. RESULTS: 527 children with tarsal and carpal stress fractures were identified (88 children had multiple bones involved). The totals were: calcaneus 244, cuboid 188, talus 121, navicular 24, cuneiforms 23, capitate 18, lunate 1, and scaphoid 1. Stress fractures were more frequently seen once we became aware each particular bone could be involved. CONCLUSION: Tarsal and carpal stress fractures in children are not rare. Careful perusal of these bones is urged in all susceptible children with limping or wrist pain.

Interaction between academic radiology and the news media: a potentially powerful and unpredictable process--five stories.

OBJECTIVE: Although articles have been published describing the relationship between news reports and the general medical literature, to our knowledge little has been published describing the relationship between radiology publications and news coverage. We present five instances of news stories centered on radiology publications or abstracts of presentations at national meetings and the effect of the media coverage within the medical community. CONCLUSION: The five examples show that news coverage can have a dramatic effect on advancing research findings and public health information published in radiology journals. Even when news coverage is inaccurate or sensationalized, the attention of the general public can drive change not only generally in medicine but also specifically in radiology.

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

BACKGROUND: The bone morphogenetic protein (BMP) pathway is known to play an imperative role in bone, cartilage, and cardiac tissue formation. Truncating, heterozygous variants, and deletions of one of the essential receptors in this pathway, Bone Morphogenetic Protein Receptor Type1A (BMPR1A), have been associated with autosomal dominant juvenile polyposis. Heterozygous deletions have also been associated with cardiac and minor skeletal anomalies. Populations with atrioventricular septal defects are enriched for rare missense BMPR1A variants. METHODS: We report on a patient with a homozygous missense variant in BMPR1A causing skeletal abnormalities, growth failure a large atrial septal defect, severe subglottic stenosis, laryngomalacia, facial dysmorphisms, and developmental delays. RESULTS: Functional analysis of this variant shows increased chondrocyte death for cells with the mutated receptor, increased phosphorylated R-Smads1/5/8, and loss of Sox9 expression mediated by decreased phosphorylation of p38. CONCLUSION: This homozygous missense variant in BMPR1A appears to cause a distinct clinical phenotype.

Danger of multiple magnets beyond the stomach in children.

Examples from our recent experience, as well as several reports in surgical and pediatric journals, proclaim the danger in children whenever more than one swallowed magnet travels beyond the stomach. They may attract across the thin walls of small bowel, causing ischemia, necrosis and perforation into the peritoneum. The radiologist or other healthcare worker seeing magnets in the abdomen on radiographs should consider the situation an emergency and recommend surgical treatment as soon as possible.