Generalized arterial calcification of infancy (GACI) is a rare, often fatal disease due to cardiovascular sequellae (cyanosis, respiratory distress, hypertension and cardiomegaly) from widespread arterial calcification and/or narrowing of medium and large diameter vessels. Other findings can include periarticular calcification, pseudoxanthoma elasticum, hearing loss, intestinal ischemia, rickets and hypo/hyperphasphatemia. A database of worldwide cases implicates genes ENPP1 and ABCC6. Our patient presented late in gestation. Although a 20 week fetal ultrasound was unremarkable, a 36 week ultrasound showed polyhydramnios, moderate pericardial effusion and moderate to severe tricuspid regurgitation; these findings prompted a C-section delivery. Early in his course, the patient developed biventricular dysfunction, systemic and pulmonary hypertension and respiratory failure requiring mechanical ventillation. Splenic calcifications, left pelvicaiectasis and lenticulostriate vasculopathy was documented in first week of life. The thoracic aorta, pulmonary artery and coronary artery were echogenic and thickened. Etidronate therapy, a treatment used for the first months to years of life to block bone mineralization until the arterial calcifications resolve, was started within 24 hours of life. However, this therapy can and did result in the development of rickets. Genetic testing revealed two mutations in the ABCC6 gene as can be seen in early onset GACI, a subtype with risk of pseudoxanthoma elasticum; our patient did exhibit hypermobile lower extremity joints. The patient's hypertension was eventually controlled with Amlodipine. Bulging fontenelles developed, likely due to ricket-impared skull growth. Calcification/narrowing of the bilateral carotids was seen. Additional complications included chronic pulmonary disease shown to be combination of chronic aspiration, nonspecific interstitial pneumonia and mild pulmonary arterial hypertensive changes. Rickets-related rib fractures further complicated the lung disease. Failure to thrive resulted in enteric feeding. Because of the severity of our patient's disease in which 6 month mortality can be as high as 85%, the treatment has aimed to prevent progression. Significant reduction in the arterial calcium burden has not yet been achieved, however the patient survived one year of treatment. Read More

Meeting name: SPR 2017 Annual Meeting & Categorical Course , 2017

Authors: Dicamillo Paul, Berlin Sheila, Vasavada Pauravi

Keywords: genetics, diphosphonate, hypertension

We present a rare Case Report Exhibit of a 4-year child with myositis ossificans secondary to non-accidental trauma. The child presented to the ER complaining of a headache. Head CT was unremarkable. However, initial physical examination revealed numerous bruises over the lower abdomen and thighs including belt marks. The patient also demonstrated restricted range of motion. A skeletal survey showed multiple remote fracture deformities and myositis ossificans extending the length of both femurs. Although myositis ossificans frequently occurs in athletes who sustain blunt injury, this unfortunate case occurred secondary to non-accidental trauma and specifically the caregiver intentionally standing on the patient’s legs. Pediatric radiologists should be mindful of non-accidental trauma as a potential cause of myositis ossificans, especially in very young children and when multifocal. Read More

Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016

Authors: Garg Vasant, Partovi Sasan, Vasavada Pauravi, Weinert Dayna, Berlin Sheila, Mcdavid Lolita, Sivit Carlos

Keywords: myositis ossificans, non-accidental trauma, child abuse