UCLA Radiological Sciences Proceedings

Dr. Dieter R. Enzmann, who led UCLA's Department of Radiological Sciences for 25 years and transformed it into one of the nation's leading academic radiology programs, passed away peacefully on June 18, 2026, at the age of 80.

PIK3CA-related overgrowth syndrome (PROS) is characterized by a range of mutations in the phosphoinositide 3-kinase (PI3K) pathway, resulting in diverse and variable imaging findings. Hyperplasia in PROS can affect multiple organ systems and commonly presents with asymmetric limb and brain enlargement, venous anomalies, and pigmented nevi. While genetic testing for PROS may be considered in the presence of these features, diagnosis and treatment are often delayed in patients with atypical phenotypes or those without visible external anomalies. We report a case of newly diagnosed PROS in a 20-year-old woman with a lifelong history of abdominal pain. This patient exhibited no external signs of the disease and had unusual vascular manifestations identified through imaging. The unique clinical and imaging features in this case provide valuable insight into the broad spectrum of PROS findings and offer guidance for radiologists in recognizing these elements.

Klippel–Feil syndrome (KFS) is a congenital spinal anomaly characterized by the fusion of two or more cervical vertebrae. While the classic triad includes a short neck, limited cervical mobility, and a low posterior hairline, many individuals remain asymptomatic. Diagnosis is often made incidentally through imaging or in adulthood, when symptoms emerge following minor trauma. Radiographically, KFS is identified by non-segmented cervical vertebrae and may be accompanied by anomalies including Chiari malformation or scoliosis. Although KFS is often benign, severe manifestations, such as congenital cervical dislocation, can occur. We present a rare case of congenital cervical dislocation in a 6-year-old boy with KFS and progressive spastic quadriplegia. Serial magnetic resonance imaging and computed tomography revealed worsening anterior subluxation and severe cervical stenosis, prompting multiple complex surgical interventions. This case highlights the essential role of multimodal imaging in the diagnosis and monitoring of, and surgical planning for, severe KFS-related cervical instability.