A case of glycogen storage disease type Ⅰa with gout as the first manifestation / 浙江大学学报·医学版

A 24-year-old male was admitted due to recurrent redness, swelling, fever and pain in the ankle, frequently accompanied by hungry feeling. Dual energy CT scans showed multiple small gouty stones in the posterior edge of the bilateral calcaneus and in the space between the bilateral metatarsophalangeal joints. The laboratory examination results indicated hyperlipidemia, high lactate lipids, and low fasting blood glucose. Histopathology of liver biopsy showed significant glycogen accumulation. The results of gene sequencing revealed the compound heterozygous mutations of the G6PC gene c.248G>A (p.Arg83His) and c.238T>A (p.Phe80Ile) in the proband. The c.248G>A mutation was from mother and the c.238T>A mutation was from father. The diagnosis of glycogen storage disease type Ⅰa was confirmed. After giving a high starch diet and limiting monosaccharide intake, as well as receiving uric acid and blood lipids lowering therapy, the condition of the patient was gradually stabilized. After a one-year follow-up, there were no acute episodes of gout and a significant improvement in hungry feeling in the patient.

Coronal Three-Dimensional Magnetic Resonance Imaging for Improving Diagnostic Accuracy for Posterior Ligamentous Complex Disruption In a Goat Spine Injury Model

OBJECTIVE: The purpose of this study was to investigate whether three-dimensional (3D) magnetic resonance imaging could improve diagnostic accuracy for suspected posterior ligamentous complex (PLC) disruption. MATERIALS AND METHODS: We used 20 freshly harvested goat spine samples with 60 segments and intact surrounding soft tissue. The animals were aged 1–1.5 years and consisted of 8 males and 12 females, which were sexually mature but had not reached adult weights. We created a paraspinal contusion model by percutaneously injecting 10 mL saline into each side of the interspinous ligament (ISL). All segments underwent T2-weighted sagittal and coronal short inversion time inversion recovery (STIR) scans as well as coronal and sagittal 3D proton density-weighted spectrally selective inversion recovery (3D-PDW-SPIR) scans acquired at 1.5T. Following scanning, some ISLs were cut and then the segments were re-scanned using the same magnetic resonance (MR) techniques. Two radiologists independently assessed the MR images, and the reliability of ISL tear interpretation was assessed using the kappa coefficient. The chi-square test was used to compare the diagnostic accuracy of images obtained using the different MR techniques. RESULTS: The interobserver reliability for detecting ISL disruption was high for all imaging techniques (0.776–0.949). The sensitivity, specificity, and diagnostic accuracy of the coronal 3D-PDW-SPIR technique for detecting ISL tears were 100, 96.9, and 97.9%, respectively, which were significantly higher than those of the sagittal STIR (p = 0.000), coronal STIR (p = 0.000), and sagittal 3D-PDW-SPIR (p = 0.001) techniques. CONCLUSION: Compared to other MR methods, coronal 3D-PDW-SPIR provides a more accurate diagnosis of ISL disruption. Adding coronal 3D-PDW-SPIR to a routine MR protocol may help to identify PLC disruptions in cases with nearby contusion.