Children with cancer are at increased risk of life-threatening emergencies, either from cancer itself or related to cancer treatment. These conditions need to be assessed and treated as early as possible to minimize their morbidity and mortality. Cardiothoracic emergencies encompass a variety of pathologies, including (1) pericardial effusions and cardiac tamponade, (2) massive hemoptysis, (3) superior vena cava syndrome, (4) pulmonary embolism, and (5) pneumonia. Abdominal emergencies include (6) bowel obstruction, (7) intussusception, (8) perforation and tumor rupture, (9) intestinal graft-versus-host disease, (10) acute pancreatitis, (11) neutropenic colitis, and (12) obstructive uropathy. Radiological imaging plays a vital role in the diagnosis of these emergencies. Although imaging features have been described in most of these conditions, recent advancement in clinical pediatrics is fast-paced. In this educational exhibit, we aim to review the clinical and imaging features of pediatric oncologic emergencies including a review of the recently published literature. Key radiological images are presented to highlight the radiological approach to the diagnosis. Pediatricians, pediatric surgeons, and pediatric radiologists need to work together to arrive at the correct diagnosis and to ensure prompt and appropriate treatment strategies. Read More

Meeting name: SPR 2019 Annual Meeting & Postgraduate Course , 2019

Authors: Handa Atsuhiko, Nozaki Taiki

Keywords: pediatric oncologic emergency

A term “ciliopathy” represents a diverse group of genetic disorders caused by mutations in genes coding for components of the primary cilia. Primary cilia have a pivotal biological role in the cell surface of nearly every organ system of the body. "Skeletal ciliopathy" is a subset of ciliopathy mainly affecting the skeleton and shares common radiological findings such as short ribs, short limbs, and short digits with or without polydactyly. Pattern recognition approach is thus useful to diagnose skeletal ciliopathy. Skeletal ciliopathy includes (1) Jeune asphyxiating thoracic dysplasia, (2) Ellis-van Creveld syndrome (chondroectodermal dysplasia), (3) Sensenbrenner syndrome (cranioectodermal dysplasia), and (4) Short rib-polydactyly syndromes. Clinically, affected patients commonly present with thoracic hypoplasia with respiratory failure and disproportional stature with a normal trunk and short limbs most severe in the distal segments. Brachydactyly is conspicuous. Patients may have extra-skeletal anomalies such as retinopathy, cardiac anomalies, cerebellar malformations, and hepatorenal failures. Radiological diagnosis of bone dysplasia might be regarded as something complex. We aim to highlight a pattern recognition approach to diagnose skeletal ciliopathies, one of the major bone dysplasias, by providing many cases. We will also review a general concept of "bone dysplasia family" which refers to a grouping of radiologically similar skeletal disorders into a “family.” This concept has been widely accepted now after we found that phenotypic similarities usually indicate the same/similar pathogenetic mechanisms, and it supports the use of a pattern recognition approach. Imaging diagnosis can guide genetic testing, interpretation, and possibly identify new genes or mutations. Read More

Meeting name: SPR 2019 Annual Meeting & Postgraduate Course , 2019

Authors: Handa Atsuhiko, Nishimura Gen

Keywords: Bone Dysplasia, Ciliopathy

Neurocristopathies are a group of disorders characterized by a common origin in aberrant neural crest development. These include common pediatric disorders such as Hirschsprung’s disease, Treacher Collins syndrome, Di George syndrome, MEN type 2A/2B as well as common pediatric tumors such as neuroblastoma, pheochromocytoma, Ewing’s sarcoma, neurofibromatosis, medullary carcinoma of the thyroid and melanoma. Neural crest cells are derived from discrete cell masses that arise at the junction between the neural and epidermal ectoderm in neurula-stage vertebrate embryos. Neural crest cells migrate extensively in an organized manner and spread widely throughout the body. Derivatives of neural crest cells include Schwann cells in the leptomeninges, nerve root ganglia in the central nervous system, thyroid C cells, bone formation in the mandible and skull base, dermis of the head and neck, myenteric nerve plexuses of the intestines, pigment cells of the skin, paravertebral sympathetic ganglia, and adrenal medulla cells. Developmental disturbances of the neural crest cells give rise to a variety of disorders as listed above and have collectively been termed neurocristopathies by Bolande in 1974. Patients with one neurocristopahty have an increased risk of having other neurocristopathies. Familial inheritance has also been shown. There is a variability in the combinations of lesions found in the same patient or family. Recent advances in genetics and developmental biology have provided deeper insights into these collection of conditions. New technologies in biology including iPS cell technology are expected to further advance our understanding of neurocristopathies. Read More

Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018

Authors: Handa Atsuhiko, Priya Sarv, Sato T Shawn, Sato Yutaka

Keywords: neurocristopathy, neural crest cells, embryology

Retroclival hematomas most often occur in pediatric patients following high speed motor vehicle accidents. Hematomas may involve the epidural, subdural, or subarachnoid spaces. Of these hematoma patterns, retroclival epidural hematomas are often associated with ligamentous injury to the tectorial membrane, transverse ligament, or alar ligament resulting in instability. Children’s relatively large head size in proportion to their bodies, less muscular support and more superior fulcrum point of cranial vertebrae (C2-C3 in young children) relative to adults predispose pediatric patients to ligamentous injury. Retroclival subdural hematomas are the most often to be associated with non-accidental brain injuries. Therefore, when young non-ambulatory children present without significant trauma, it is not only imperative to recognize the radiographic findings of retroclival subdural hematomas, but to be cognizant of its association with child abuse. Radiological evaluation should include reconstructed sagittal CT images in soft tissue window as well as bone window. Special attention should be paid to the soft tissue window since hematomas often show low or intermediate attenuation on CT and can be easily missed on bone window. If only CT of the head is performed, extension to the craniocervical junction should be included. MRI, especially T2 weighted thin cut images are best suited for evaluation of ligamentous injury. STIR sequence can also provide ligamentous details as well as bone marrow edema. Read More

Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018

Authors: Handa Atsuhiko, Becker Robert, Sato Yutaka, Sato T Shawn

Keywords: Retroclival hematoma, ligamentous injury, abusive injury

Immunoglobulin4 related disease (IgG4RD) is an inflammatory condition involving multiple regions of the body resulting in fibrosis which can lead to eventual organ failure. This entity was originally described with autoimmune pancreatitis. Recently many other previously described lesions have been brought under the umbrella of IgG4RD. These include a spectrum of conditions involving the head and neck region (orbits, salivary and lacrimal glands), thyroid gland (Riedel’s thyroiditis), vasculature (periaortitis), kidneys, lungs, retroperitoneum, mesentery, pituitary gland, biliary tract, pericardium, lymph nodes and pachymeninges. Reports of IgG4RD are quite rare in the pediatric literature, however this may be due to potential unawareness about the condition as well as the variable presentations and non-specific imaging features of IgG4RD. The prevalence in pediatric population is poorly described. The exact pathophysiology of IgG4RD is yet to be completely elucidated. The imaging manifestations are non-specific, and primarily consist of tumefactive enlargement of involved organs and homogenous contrast enhancement and associated lymphadenopathy. IgG4RD may manifest in single organ or may present as widespread disease involving multiple organs. These features overlap with other mass forming conditions like malignancy or lymphoma. However, the presence of multifocal disease with more than one organ involvement may point towards possible IgG4 related disease. Other than IgG4 related autoimmune pancreatitis, there is no consensus on diagnostic criteria based upon imaging. Definitive diagnosis of IgG4RD is made with biopsy and the histology characterized by infiltration of lymphocytes and IgG4 plasma cells with storiform fibrosis and obliterative phlebitis. According to Boston consensus, the ratio of IgG4 /IgG in tissue should be more than 0.4 with more than 10 IgG4+ cells per high power field. Serum IgG4 levels range from normal to elevated. Steroids are effective as first line treatment in majority of patients. Our aim in this presentation is to familiarize radiologists with the spectrum of imaging features, and areas of involvement in IgG4 related disease using cases of IgG4RD collected at three different pediatric hospitals. It is important for pediatric radiologists to be familiar with this relatively newly described disease entity and be aware of the spectrum of manifestations of IgG4RD, ensuring prompt recognition and early treatment. Read More

Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018

Authors: Priya Sarv, Handa Atsuhiko, Ferreira Da Silva Renato, Lai Lillian, Khanna Geetika, Sato T Shawn

Keywords: IgG4, fibrosis