Morquio A syndrome is an autosomal recessive lysosomal storage disorder characterized by skeletal dysplasia and progressive disability due to orthopedic complications, spinal cord compression and airway compromise. Although the bony changes and cervical spine instability have been well described in the radiology literature, the importance of imaging the airway in these patients has received scant attention. The purpose of this poster is to illustrate the progressive abnormality of the thoracic inlet and trachea seen in children and young adults with Morquio A syndrome. The interplay of pectus carinatum, hypertrophied clavicular heads and upper thoracic kyphosis leads to bony narrowing of the thoracic inlet. Furthermore, glycosaminoglycan deposition degrades the structural integrity of the tracheal wall, creating a twisted and floppy airway. Additional crowding by a crossing tortuous right brachiocephalic artery and sometimes the thyroid gland contribute to progressive narrowing of the trachea at the thoracic inlet. Imbalance of growth between the skeleton and the airway and blood vessels may also play a role. We present a series of patients with Morqiuo A syndrome, with multimodality imaging depicting the complex anatomy of the thoracic inlet contributing to airway compromise. Radiographs of the neck, chest or spine can suggest airway narrowing with a tilted hourglass shape of the trachea seen in the frontal projection; lateral views, though, are often limited. MRI of the cervical spine, frequently acquired to evaluate the craniocervical junction, also allows for assessment of the thoracic inlet including the trachea and crossing right brachiocephalic artery. CT angiogram of the chest can more clearly delineate vascular, bony and airway relationships in individuals with declining respiratory function or unexpected airway difficulty during anesthetic management. Three dimensional rendering and airway fly-through techniques may help guide anesthetic care and, in extreme cases, airway reconstruction. The imaging features of the thoracic inlet in this group of Morquio A patients are correlated with clinical phenotype, pulmonary function tests, and bronchoscopy when available. Read More

Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016

Authors: Averill Lauren, Tomatsu Shunji, Theroux Mary

Keywords: trachea, skeletal dysplasia, brachiocephalic artery

The purpose of educational exhibit is to summarize the radiological appearances of various conditions causing basal ganglia (BG) calcification in children. The pathogenesis for symmetric BG calcification is diverse and ranges from benign physiological calcifications to a variety of pathological disorders including metabolic, infectious and genetic diseases. We present a practical approach to further narrow the differential diagnosis based on associated musculoskeletal imaging findings in patients with BG calcification. Parathyroid disorders are the most common causes of pathological BG calcification. In hyperparathyroidism, distinctive subperiosteal bone resorption can be seen in phalanges on hand radiographs. Tapering of the clavicles, brown tumors and salt-and-pepper appearance of the skull are also classic radiographic features. In the Albright hereditary osteodystrophy phenotype of pseudohypoparathyroidism, shortening of the fourth and fifth metacarpals as well as advanced bone age can aid in diagnosis. Tumoral calcinosis is another radiographically distinct disease that can cause BG calcification, characterized in the extremities by periarticular calcific deposits. Cockayne syndrome is a rare autosomal recessive (AR) disorder with 4 overlapping subtypes, all with BG calcification as well as diffuse skeletal abnormalities that become apparent in the toddler years. Carbonic anhydrase deficiency type 2 is another rare AR disorder with intracranial calcification including the BG, as well as osteopetrosis and pathologic fractures. Coat’s plus syndrome has characteristic rock-like intracranial calcifications paired with leukodystrophy and brain cysts. It manifests skeletally with osteopenia, delayed fracture healing, bowing of long bones, scoliosis, midface hypoplasia and femoral head avascular necrosis. Other common conditions such a Down syndrome and HIV, and rare disorders such Fahr's disease, malignant phenylketonuria, and Aicardi-Goutieres syndrome are in the differential diagnosis of BG calcifications. Read More

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

Authors: Donuru Achala, Kandula Vinay, Averill Lauren

Keywords: basal ganglia, calcification, musculoskeletal