The phakomatoses are neurocutaneous disorders arising from the abnormal development of cells of embryonic ectodermal and mesodermal origin. Although commonly involving central nervous system and cutaneous structures, these disorders can also involve the visceral organs, vascular system, and connective tissue. There are over 30 neurocutaneous entities, each with unique genetic and physical manifestations. Clinical diagnosis may be challenging, as the physical and imaging expressions of disease are variable and broad. Importantly, many affected individuals may present with less common manifestations of disease, and furthermore, less common disorders may be difficult to recognize. The goals of this educational exhibit are to: 1) Review the pathogenesis, genetic underpinnings, and clinical features of phakomatoses. 2) Emphasize lesser-known imaging manifestations of more commonly encountered phakomatoses (e.g., cortical dysplasia in NF2). 3) Detailed review of imaging manifestations of less common phakomatoses (e.g., Parry-Romberg syndrome). Covered conditions will include commonly encountered phakomatoses (neurofibromatosis types 1 and 2, tuberous sclerosis, Sturge-Weber syndrome, Von Hippel Lindau disease etc.), and less commonly encountered entities such as basal cell nevus syndrome and other phakomatosis groups such as vascular phakomatoses (e.g, hereditary hemorrhagic telangectasia, PHACE syndrome, meningioangiomatosis, diffuse neonatal hemangiomatosis); melanophakomatoses (e.g., neurocutaneous melanosis, incontinentia pigmenti); and overgrowth syndromes (PTEN hamartoma tumor syndromes). Read More

Meeting name: SPR 2022 Annual Meeting & Postgraduate Course , 2022

Authors: England Elizabeth, Snyder Elizabeth, Pastakia Devang, Pruthi Sumit, Sarma Asha

Keywords: Phakomatosis, Neurocutaneous disorder

The prevalence of pediatric cancers attributable to hereditary cancer predisposition syndromes (CPS) has grown in recent years due to the increasing recognition of links between germline mutations and pediatric cancers. As a result, a rapidly increasing population of patients with CPS are being seen in pediatric radiology practice. In collaboration with oncologists, surgeons, and other specialists, the radiologist plays an essential role in the management of these patients. For example, they may be the first to recognize the constellation of findings leading to the diagnosis of a CPS. In addition, the radiologist who is knowledgeable about pediatric CPS plays a pivotal role in the planning of imaging evaluations, which may need to be concise or comprehensive depending on the clinical situation, with judicious use of ionizing radiation, procedural sedation, and contrast. This is especially important because, although there are consensus screening and surveillance guidelines for the most common CPS, such guidelines have not been established for less common syndromes. This educational exhibit seeks to provide an overview of various CPS, emphasizing 1) genetic underpinnings and mechanisms related to cancer predisposition, 2) the common and uncommon imaging findings, 3) preferred imaging techniques, and 4) currently available screening and surveillance recommendations. Pediatric CPS that will be discussed here include Li-Fraumeni syndrome, neurofibromatosis type I, von Hippel Lindau disease, Beckwith-Wiedemann syndrome, DICER-1 related conditions, Familial adenomatous polyposis, and Gorlin syndrome, as well as neuroendocrine syndromes (e.g., multiple endocrine neoplasia). Less common cancer predisposition syndromes, including DNA-repair related syndromes such as Ataxia-telangectasia, as well as Rubenstein-Taybi syndrome, and PTEN hamartoma tumor syndrome will also be discussed. Read More

Meeting name: SPR 2022 Annual Meeting & Postgraduate Course , 2022

Authors: Patel Arjun, Sarma Asha, Krishnasarma Rekha, Benedetti Daniel, Pruthi Sumit, Snyder Elizabeth

Keywords: cancer predisposition syndrome, hereditary cancer

Spinal cord lipomas are rare benign tumors of adipose tissue that have a range of presentations and management based on size, location, and embryogenesis. Importantly, the intradural lipomatous tissue can act as a tethering lesion placing the cord at risk of vascular compromise, particularly during periods of growth. Since spinal lipomas cause progressive disease and symptoms, early recognition and treatment in the pediatric population is beneficial. Neurosurgical literature supports further classification of spinal lipomas as dorsal, transitional, terminal, and chaotic based on location and imaging features for risk stratification, surgical planning, and prognostication. Although categorization for the purpose of guiding surgical management is based on imaging features, there currently is lack of representation of this classification system for spinal cord lipomas in the radiology literature. The aim of this exhibit is to educate pediatric radiologists about this classification system for spinal cord lipomas. Relevant anatomy and embryogenesis will be reviewed, and case-based examples will be used to illustrate relevant imaging features of each type of spinal lipoma. Findings impacting surgical planning and prognosis will be specifically highlighted. Read More

Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024

Authors: Park Seungweon, Sarma Asha, Dewan Michael, Leschied Jessica, Greene Elton, Pruthi Sumit, Martin Dann, Foust Alexandra

Keywords: spinal lipoma, embryogenesis, neuroradiology