Dabrafenib and trametinib in Langerhans cell histiocytosis and other histiocytic disorders.

The standard treatment for Langerhans cell histiocytosis (LCH) is chemotherapy, although the failure rates are high. Since MAP-kinase activating mutations are found in most cases, BRAF- and MEK-inhibitors have been used successfully to treat patients with refractory or relapsed disease. However, data on long-term responses in children are limited and there are no data on the use of these inhibitors as first-line therapy.

Neonatal vascular anomalies manifesting as soft-tissue masses.

The broad and heterogeneous spectrum of vascular anomalies ranges from an innocuous localized cutaneous discoloration to complex, extensive and life-threatening diagnoses. While many of these lesions are present at birth, smaller and deeper lesions might be clinically occult for months or years. Certain vascular anomalies commonly manifest in the prenatal or neonatal period and often have suggestive clinical and imaging features that can aid the radiologist in making a correct diagnosis.

Congenital hemangioma of the face-Value of fetal MRI with prenatal ultrasound.

We report the presentation, workup, and pre/perinatal management of a fetus with a large congenital hemangioma of the face. Hemangiomas are benign vascular neoplasms frequently encountered in neonates and infants. The less common congenital variant develops in utero and can present on prenatal ultrasound with diagnostic uncertainty as well as clinical implications for delivery.

Spaced radiology: encouraging durable memory using spaced testing in pediatric radiology.

Applied memory research in the field of cognitive and educational psychology has generated a large body of data to support the use of spacing and testing to promote long-term or durable memory. Despite the consensus of this scientific community, most learners, including radiology residents, do not utilize these tools for learning new information. We present a discussion of these parallel and synergistic learning techniques and their incorporation into a software platform, called Spaced Radiology, which we created for teaching radiology residents.

Non-contrast three-dimensional gradient recalled echo Dixon-based magnetic resonance angiography/venography in children.

Magnetic resonance imaging (MRI) has been considered a valuable diagnostic tool for noninvasive imaging of the vasculature in children and adults for more than two decades. While a variety of non-contrast MRI methods have been described for imaging of both arteries and veins (e.g.

Decreased rectal meconium signal on MRI in fetuses with open spinal dysraphism.

Objective: To evaluate rectal meconium signal in fetuses with open spinal dysraphism and correlate findings with postnatal exam.

Methods: This is a single-institution Institutional Review Board-approved Health Insurance Portability and Accountability Act (HIPAA) compliant retrospective analysis of fetal MRIs of open spinal dysraphism from 2004 to 2016. Fetuses with diagnostic T1-weighted images and postnatal follow-up at our institution were included.

Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.

Fetal ventriculomegaly is a common referral for prenatal MRI, with possible etiologies being hydrocephalus and hydranencephaly. The underlying cause of hydranencephaly is unknown, but many have suggested that the characteristic supratentorial injury is related to idiopathic bilateral occlusions of the internal carotid arteries from an acquired or destructive event. Fowler syndrome is a rare genetic disorder that causes fetal akinesia and a proliferative vasculopathy that can result in an apparent hydranencephaly-hydrocephaly complex.

Imaging of Pediatric Growth Plate Disturbances.

The growth plates, or physes, are visible on virtually all images obtained in skeletally immature children. The proper function of these growth plates depends on an intricate balance between chondrocyte proliferation, which requires nourishment from the epiphyseal vessels, and chondrocyte death, which requires the integrity of the metaphyseal vessels. Therefore, injury to the growth plate (ie, direct insult) or vascular compromise on either side of the growth plate (ie, indirect insult) can cause growth plate dysfunction.

Four cases of pediatric deep-seated/subcutaneous pyogenic granuloma: Review of literature and differential diagnosis.

Background: Pyogenic granulomas are benign, reactive, typically superficial vascular lesions that can be idiopathic or arise secondary to trauma, underlying vascular malformations, infections, physiologic or pathologic endocrine changes, and hormone therapy. Deep-seated/subcutaneous pyogenic granulomas (DSPG) are rarely seen in any age group. Pediatric DSPGs can be a clinical and pathologic challenge because these lesions mimic other vascular lesions, including kaposiform hemangioendothelioma, infantile hemangiomas and vascular malformations.

Diffuse phalangeal signal abnormality on magnetic resonance imaging: phalangeal microgeodic disease.

Background: Phalangeal microgeodic disease is a rare and benign self-limited condition involving the phalanges, often in the setting of cold exposure, with characteristic MR imaging abnormalities. Radiographic case descriptions are predominantly from Asia and Europe, with only seven cases using MR to characterize phalangeal microgeodic disease.

Objective: In this study we describe the MR imaging appearance of unusual and striking phalangeal signal abnormality compatible with phalangeal microgeodic disease at our institution in North America.

Clinical validation of synthetic brain MRI in children: initial experience.

Introduction: The purpose of this study was to determine the diagnostic accuracy of synthetic MR sequences generated through post-acquisition processing of a single sequence measuring inherent R1, R2, and PD tissue properties compared with sequences acquired conventionally as part of a routine clinical pediatric brain MR exam.

Methods: Thirty-two patients underwent routine clinical brain MRI with conventional and synthetic sequences acquired (22 abnormal). Synthetic axial T1, T2, and T2 fluid attenuation inversion recovery or proton density-weighted sequences were made to match the comparable clinical sequences.

Long-term outcome for kaposiform hemangioendothelioma: A report of two cases.

Kaposiform hemangioendothelioma (KHE) is a rare aggressive vascular tumor of skin and deep soft tissues that typically presents in infancy and may be associated with a potentially life-threatening coagulopathy known as Kasabach-Merrit phenomenon (KMP). Recent advances in medical therapy have successfully treated many patients. However, our knowledge regarding the natural history of these lesions and optimum surveillance strategies remains rudimentary.

Peer Feedback, Learning, and Improvement: Answering the Call of the Institute of Medicine Report on Diagnostic Error.

In September 2015, the Institute of Medicine (IOM) published a report titled "Improving Diagnosis in Health Care," in which it was recommended that "health care organizations should adopt policies and practices that promote a nonpunitive culture that values open discussion and feedback on diagnostic performance." It may seem counterintuitive that a report addressing a highly technical skill such as medical diagnosis would be focused on organizational culture. The wisdom becomes clearer, however, when examined in the light of recent advances in the understanding of human error and individual and organizational performance.

2014 Revised Classification of Vascular Lesions from the International Society for the Study of Vascular Anomalies: Radiologic-Pathologic Update.

Since the publication of the seminal work on the histology-based classification of vascular anomalies by Mulliken and Glowacki in 1982 and the subsequent adoption of an expanded and modified version in 1996 by the International Society for the Study of Vascular Anomalies, an increasing number of vascular lesions have been recognized as histologically distinct entities. Furthermore, there have been significant advances in detailing the behavior and underlying genetics of previously identified lesions. These developments have required restructuring and expansion of the classification scheme so that appropriate therapies may be studied and implemented in affected patients.

Response of Blue Rubber Bleb Nevus Syndrome to Sirolimus Treatment.

Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare multifocal venous malformation syndrome involving predominantly the skin and gastrointestinal tract. Traditional treatment modalities include corticosteroids, interferon-α, sclerotherapy, and aggressive surgical resection. Sirolimus has been used in several single case reports.

Case 4: an adolescent girl with left lower quadrant pain.

The imaging management of an adolescent girl with pelvic pain and ovarian pathology is discussed through the details of a specific case.

Gorham-Stout Disease Successfully Treated With Sirolimus and Zoledronic Acid Therapy.

Gorham-Stout disease is a life-threatening disorder often manifested by lymphatic malformation and osteolysis. Unfortunately, available therapies are not uniformly effective and often carry substantial morbidity. We report an 18-year-old male with Gorham-Stout disease manifested by lytic rib lesions and an intractable pleural effusion that responded dramatically to the combination of the mammalian target of rapamycin (mTOR) inhibitor sirolimus and the aminobisphosphonate zoledronic acid after failing interferon therapy.

Efficacy and Safety of Sirolimus in the Treatment of Complicated Vascular Anomalies.

Background And Objectives: Complicated vascular anomalies have limited therapeutic options and cause significant morbidity and mortality. This Phase II trial enrolled patients with complicated vascular anomalies to determine the efficacy and safety of treatment with sirolimus for 12 courses; each course was defined as 28 days.

Methods: Treatment consisted of a continuous dosing schedule of oral sirolimus starting at 0.

Extrafetal Findings on Fetal Magnetic Resonance Imaging: A Pictorial Essay.

Although US is the mainstay of fetal imaging, magnetic resonance imaging (MRI) has become an invaluable adjunct in recent years. MRI offers superb soft tissue contrast that allows for detailed evaluation of fetal organs, particularly the brain, which enhances understanding of disease severity. MRI can yield results that are similar to or even better than those of US, particularly in cases of marked oligohydramnios, maternal obesity, or adverse fetal positioning.

Quantitative Skeletal Muscle MRI: Part 2, MR Spectroscopy and T2 Relaxation Time Mapping-Comparison Between Boys With Duchenne Muscular Dystrophy and Healthy Boys.

Objective: The purpose of this study is to validate the use of MR spectroscopy (MRS) in measuring muscular fat and to compare it with T2 maps in differentiating boys with Duchenne muscular dystrophy (DMD) from healthy boys.

Subjects And Methods: Forty-two boys with DMD and 31 healthy boys were evaluated with MRI with (1)H-MRS and T2 maps. Grading of muscle fat and edema on conventional images, calculation of fat fractions ([fat / fat] + water) on MRS, and calculation of T2 fat values on T2 maps of the gluteus maximus and vastus lateralis muscles were performed.

Quantitative Skeletal Muscle MRI: Part 1, Derived T2 Fat Map in Differentiation Between Boys With Duchenne Muscular Dystrophy and Healthy Boys.

Objective: The purpose of this study was to validate derived T2 maps as an objective measure of muscular fat for discrimination between boys with Duchenne muscular dystrophy (DMD) and healthy boys.

Subjects And Methods: Forty-two boys with DMD (mean age, 9.9 years) and 31 healthy boys (mean age, 11.

Case 3: a toddler with orbital swelling.

The radiologic work-up of a child with an aggressive lesion of the bony orbit is discussed through the details of a specific case.

Case 2: a 10-year-old girl with hip pain.

In this continuing series designed for pediatric radiology trainees, the imaging management of hip pain and a discovered bony mass are dissected through a specific case of a preadolescent.