ABSTRACT MYH11 ‐related hereditary type 2 visceral myopathy is a rare smooth muscle disorder typically presenting in infancy with severe gastrointestinal and genitourinary dysfunction. We describe a 73‐year‐old female with lifelong symptoms of gastrointestinal and urinary dysfunction, including chronic constipation, neurogenic bladder, recurrent urinary tract infections, gastroparesis, and pelvic organ prolapse. A multigenerational family history revealed similar visceral smooth muscle abnormalities among 14 affected individuals over five generations, suggesting autosomal dominant inheritance. Whole‐genome sequencing identified a heterozygous, likely pathogenic variant in MYH11 c.5819del; p.(Pro1940HisfsTer91), consistent with the diagnosis of autosomal dominant type 2 visceral myopathy. This variant causes production of an abnormally elongated myosin‐heavy chain, disrupting muscle contractile function. This individual's survival into her eighth decade reflects long‐term clinical stability, possibly attributable to the variant's milder effect. We describe the clinical course of the disease, along with a comprehensive review of previously described individuals with the same variant. This case broadens the phenotypic spectrum of MYH11 ‐associated visceral myopathy, demonstrating that late‐onset, milder forms can occur and remain compatible with long‐term survival with optimal supportive management. Comprehensive genetic evaluation identifies primary disorders, enabling precise diagnosis, tailored management, and informed genetic counseling for complex phenotypes.
Contrast-enhanced US Evaluation of Indeterminate Focal Renal Masses
CEUS is a safe and cost-effective means for characterization of indeterminate renal masses, with performance equal to or better than that of contrast-enhanced CT or MRI for stratification and surveillance of cystic renal masses and discrimination of benign avascular cysts from solid renal masses.
Mimics and Pitfalls of Primary Ovarian Malignancy Imaging
The complex anatomy and similarity of imaging features of various pathologies in the pelvis can make accurate radiology interpretation difficult. While prompt recognition of ovarian cancer remains essential, awareness of processes that mimic ovarian tumors can avoid potential misdiagnosis and unnecessary surgery. This article details the female pelvic anatomy and highlights relevant imaging features that mimic extra-ovarian tumors, to help the radiologists accurately build a differential diagnosis of a lesion occupying the adnexa.
Isolated Intravascular Prostate Carcinoma Recurrence Confirmed With 18F-Fluciclovine PET/CT and MRI
Abstract Late recurrence of prostate cancer after remission with prior radical prostatectomy is uncommon. This is a unique case of biochemical recurrence after being in remission for 12 years. The patient presented with swelling of the right lower extremity with pelvic MRI demonstrating an arterially enhancing filling defect in the right common iliac. An 18F-fluciclovine PET/CT showed corresponding increased intravascular radiotracer activity. Targeted biopsy of the intravascular lesion showed poorly differentiated carcinoma, suggestive of prostate origin. Although MRI evaluation is the mainstay for pelvic evaluation, characterization with 18F-fluciclovine PET/CT imaging adds high whole-body specificity and diagnostic accuracy.