Gadoxetic acid disodium-enhanced hepatocyte phase MRI: can increasing the flip angle improve focal liver lesion detection?

PURPOSE: To determine whether hepatocyte phase gadoxetic acid disodium (EOB)-enhanced MRI using a high flip angle (FA) improves focal liver lesion (FLL) detection compared with using a standard low FA. MATERIALS AND METHODS: Sixty-two consecutive patients with 159 FLLs underwent EOB-enhanced MRI during the hepatocyte phase at 5, 10, 15, and 20 min, with both low (10°) and high (30°) FAs. Two blinded radiologists independently and randomly reviewed the two image sets using a four-point rating scale. Sensitivities and specificities were calculated and lesion-to-liver contrast ratio (LLC) on all hepatocyte phase images was measured. RESULTS: The sensitivities with high FA for small (≤10 mm) malignant FLLs were significantly higher than those with low FA, at all time points, for both readers (P ≤ 0.05). Meanwhile, the specificities of the two protocols for the detection of all FLLs at all time points during the hepatocyte phase were high and same (98.2%) for both readers, without any significant differences (P = 1.00). LLCs with high FA were significantly higher than those with low FA at all time points (P ≤ 0.001). CONCLUSION: Hepatocyte phase EOB-enhanced MRI with increasing FA can significantly increase LLC and improve the detection of FLLs, particularly small malignant lesions.

Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.

Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of a progressive spondyloepimetaphyseal dysplasia and mental retardation ranging from mild to severe. The disorder results from mutations in the dymeclin (DYM) gene in the 18q12-12.1 chromosomal region. We report two siblings with classical clinical and radiological features of DMC and asymptomatic atlanto-axial dislocation. A novel homozygous splice-site mutation (IVS15+3G>T) was detected. Reverse transcriptase polymerase chain reaction (RT-PCR) confirmed that this mutation affects normal splicing. To the best of our knowledge, this is the first report of DMC from Saudi Arabia. The splice mutation noted in our patients was compared to the previously reported cases and supports the hypothesis that loss of DYM function is the likely mechanism of disease pathogenesis. In conclusion, distinction between this type of skeletal dysplasia and Morquio disease (MPS IV) is important for paediatricians and clinical geneticist in providing standard patient care and genetic counselling.