Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition.

Purpose To determine if adrenal calcifications seen at computed tomography (CT) are associated with familial cerebral cavernous malformations (fCCMs) in carriers of the CCM1 Common Hispanic Mutation. Materials and Methods This study was approved by the institutional review board. The authors retrospectively reviewed abdominal CT scans in 38 patients with fCCM, 38 unaffected age- and sex-matched control subjects, and 13 patients with sporadic, nonfamilial cerebral cavernous malformation (CCM). The size, number, and laterality of calcifications and the morphologic characteristics of the adrenal gland were recorded. Brain lesion count was recorded from brain magnetic resonance (MR) imaging in patients with fCCM. The prevalence of adrenal calcifications in patients with fCCM was compared with that in unaffected control subjects and those with sporadic CCM by using the Fisher exact test. Additional analyses were performed to determine whether age and brain lesion count were associated with adrenal findings in patients with fCCM. Results Small focal calcifications (SFCs) (≤5 mm) were seen in one or both adrenal glands in 19 of the 38 patients with fCCM (50%), compared with 0 of the 38 unaffected control subjects (P < .001) and 0 of the 13 subjects with sporadic CCM (P = .001). Adrenal calcifications in patients with fCCM were more frequently left sided, with 17 of 19 patients having more SFCs in the left adrenal gland than the right adrenal gland and 50 of the 61 observed SFCs (82%) found in the left adrenal gland. No subjects had SFCs on the right side only. In patients with fCCM, the presence of SFCs showed a positive correlation with age (P < .001) and number of brain lesions (P < .001). Conclusion Adrenal calcifications identified on CT scans are common in patients with fCCM and may be a clinically silent manifestation of disease. © RSNA, 2017.

Utility of transabdominal ultrasound for surveillance of known pancreatic cystic lesions: prospective evaluation with MRI as reference standard.

OBJECTIVES: To prospectively assess the utility of transabdominal ultrasound in surveillance of known pancreatic cystic lesions (PCL) using same day MRI as reference standard. METHODS: In an IRB-approved study with written informed consent, patients with known PCL underwent pancreas US on same day as surveillance MRI. US was performed blinded to same date MRI results. Transverse (TR), antero-posterior (AP), cranio-caudal (CC), and longest any plane diameter, were measured for each PCL at US and MRI. Visualization was correlated with patient (weight, abdominal diameter, thickness of abdominal fat, sex) and cyst (location, size, internal complexity) factors. RESULTS: 252 PCLs evaluated in 57 subjects (39 females; mean age 67 (range 39-86) yrs). Mean maximum PCL diameter 8.5 (range 2-92) mm. US identified 100% (5/5) of cysts ≥3 cm; 92% (12/13) ≥2 and <3 cm; 78% (43/55) ≥1 and <2 cm; 35% (27/78) ≥5 mm and <1 cm; and 16% (16/101) <5 mm. US visualization correlated with PCL location (<0.0001), size (p < 0.0001), patient gender (p = 0.005), participation of attending radiologist (p = 0.03); inversely with patient weight (p = 0.012) and AP abdominal diameter (p = 0.01). CONCLUSION: Many PCLs are visualized and accurately measured at follow-up with transabdominal ultrasound. Visualization correlates with lesion size, location, patient sex, weight, and abdominal diameter.

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

Nemaline myopathy (NM) is the most common of several congenital myopathies that present with skeletal muscle weakness and hypotonia. It is clinically heterogeneous and the diagnosis is confirmed by identification of nemaline bodies in affected muscles. The skeletal muscle alpha-actin gene (ACTA1) is one of five genes for thin filament proteins identified so far as responsible for different forms of NM. We have screened the ACTA1 gene in a cohort of 109 unrelated patients with NM. Here, we describe clinical and pathological features associated with 29 ACTA1 mutations found in 38 individuals from 28 families. Although ACTA1 mutations cause a remarkably heterogeneous range of phenotypes, they were preferentially associated with severe clinical presentations (p < 0.0001). Most pathogenic ACTA1 mutations were missense changes with two instances of single base pair deletions. Most patients with ACTA1 mutations had no prior family history of neuromuscular disease (24/28). One severe case, caused by compound heterozygous recessive ACTA1 mutations, demonstrated increased alpha-cardiac actin expression, suggesting that cardiac actin might partially compensate for ACTA1 abnormalities in the fetal/neonatal period. This cohort also includes the first instance of an ACTA1 mutation manifesting with adult-onset disease and two pedigrees exhibiting potential incomplete penetrance. Overall, ACTA1 mutations are a common cause of NM, accounting for more than half of severe cases and 26% of all NM cases in this series.