UCLA Radiological Sciences Proceedings

Malignant infantile osteopetrosis is a rare inherited disease of bone metabolism, in which osteoclast dysfunction and diminished bone turnover lead to diffuse sclerosis with obliteration of the medullary cavities and narrowing of the skull base neural foramina. We report a case of malignant infantile osteopetrosis with bone marrow failure and optic atrophy that co-occurred with hypophosphatasia, another rare inherited bone disease, in a 6-year-old boy. Key imaging signs of these rare diseases are discussed.

Colonic atresia is an uncommon cause of intestional obstruction. There is a scarcity of cases of colonic atresia described in the literature, and the pathogenesis of the disease remains unknown. Although the clinical presentation of patients with colonic atresia seldom varies, reported co-occurring anomalies vary widely; almost half of the cases involve other congenital defects. We report a case of colonic atresia that appears to have co-occurred with Rubinstein-Taybi syndrome, another rare congenital disease. Based on a literature search, we believe that this might be the first reported case of co-occurrence of these two rare anomalies.

Unilateral hypertrophy of the tensor fasciae latae (TFL) is an uncommon radiologic finding that may present as a palpable soft tissue mass in the thigh. Accurate radiologic diagnosis can circumvent unnecessary biopsy for this benign finding. We report two cases of unilateral hypertrophy of tensor fasciae latae muscles, both of which presented as a proximal thigh mass. We provide examples of sonographic, computed tomography (CT), and magnetic resonance imaging (MRI) features.

The respiratory virus SARS-CoV-2, responsible for the multisystem illness known as COVID-19 that resulted in the pandemic of 2020, is increasingly recognized for its ability to cause cerebrovascular complications. This series of four cases observed during the height of the pandemic in a single institution is presented to illustrate the diverse pathophysiology of COVID-19 cerebrovascular manifestations and their corresponding clinical and radiologic manifestations.