The added value of brain MR spectroscopy in children with Crigler-Najjar syndrome type-I: correlation with demographic, neurodevelopmental, and laboratory findings.

OBJECTIVE: The aim of this study is to demonstrate the role of proton magnetic resonance spectroscopy (1H-MRS) in the detection of brain microstructural changes in patients with Crigler-Najjar syndrome type-I (CNs-I), and its correlation with demographic, neurodevelopmental and laboratory findings. METHODS: Prospective study was conducted on 25 children with CNs-I and 25 age and sex-matched children, who served as control. They underwent multivoxel 1H-MRS of basal ganglion at echo time 135-144 ms. N-acetyl aspartate/Creatine (NAA/Cr) and Choline (Ch)/Cr were calculated and correlated with demographic, clinical, and laboratory findings of patients with CNs-I. RESULTS: There was a significant difference in NAA/Cr and Ch/Cr between patients and controls. The cut-off value for NAA/Cr and Ch/Cr used to differentiate patients from controls were 1.8 and 1.2 with an area under the curve (AUC) of 0.91 and 0.84 respectively. There was a significant difference in MRS ratios between patients with neurodevelopmental delay (NDD) and patients without NDD. The cut-off values for NAA/Cr and Ch/Cr used to differentiate between patients with NDD and patients without NDD were 1.47 and 0.99, with AUC of 0.87 and 0.8 respectively. The NAA/Cr and Ch/Cr were well correlated with family history (p = 0.006 and p < 0.001) respectively, consanguinity (p < 0.001 and p = 0.001), neurodevelopmental delay (p = 0.001 and p = 0.004), serum bilirubin level (r = -0.77, p < 0.001), (r = -0.49, p = 0.014), phototherapy (p < 0.001 and p = 0.32), blood transfusion (p < 0.001 and p = 0.001) respectively. CONCLUSION: 1H-MRS can be a useful tool in the detection of neurological changes in patients with CNs-I; NAA/Cr and Ch/Cr parameters are well correlated with demographic, clinical, and laboratory findings. ADVANCES IN KNOWLEDGE: Our study is the first report on using MRS in assessing neurological manifestations in CNs. 1H-MRS can be a useful tool in the detection of neurological changes in patients with CNs-I.

Pre- and post-therapeutic evaluation of liver and spleen in type I and type III Gaucher's disease using diffusion tensor imaging.

PURPOSE: To assess the role of diffusion tensor imaging in assessing liver and splenic parenchymal infiltration in Gaucher's disease (G.D.) type I and III before and after therapy. METHODS: A prospective study was conducted upon 28 consecutive patients with G.D. type I and III and 28 age and sex-matched controls. They underwent an MRI and DTI of the liver and spleen. Mean diffusivity (M.D.) and fractional anisotropy (F.A.) values of the liver and spleen were evaluated before and after treatment and compared with control. RESULTS: There was a statistically significant difference in the M.D. value of the liver and spleen between untreated patients and controls and between control and treated patients and in the M.D. value of the liver and spleen between untreated and treated patients. There is a statistically significant difference in the F.A. value of the liver and spleen between untreated patients and controls and in the F.A. value of the liver and spleen between untreated and treated patients. Hemoglobin level was positively correlated with the M.D. value of the spleen. Clinical score was negatively correlated with M.D. value of the spleen and was positively correlated with F.A. values of the liver and F.A. values of the spleen. Spleen volume was negatively correlated with M.D. values of the spleen. CONCLUSION: Significant difference in M.D. and F.A. values of liver and splenic parenchyma in p atients with type I and III G.D. and controls, and between untreated and treated patients. The M.D. and F.A. values were well correlated with some biomarkers of disease activity.

Interobserver agreement of interstitial lung fibrosis Reporting and Data System (ILF-RADS) at high-resolution CT.

PURPOSE: To assess the interobserver agreement of interstitial lung fibrosis Reporting and Data System (ILF-RADS) in interpretation and categorization of interstitial lung disease (ILD) at high-resolution CT (HRCT). METHODS: Retrospective analysis was performed on 65 consecutive patients (36 male and 29 female), median age 53 years, who were referred to the Radiology Department, Mansoura University, in the period from July 2016 to February 2020. They were expected clinically to have diffuse lung disease and underwent HRCT of the chest. Patients had some investigations like serology, and when required surgical lung biopsy. Image analysis was done by two independent and blinded readers for the pulmonary and extra-pulmonary finding of ILF-RADS. The pulmonary findings were 13 items and extrapulmonary findings were 5 items. The score was 5 types according to ILF-RADS: ILF-RADS 0 (incomplete assessment), ILF-RADS 1 (typical UIP), ILF-RADS 2 (probable UIP), ILF-RADS 3 (indeterminate UIP), ILF-RADS 4 (CT features most consistent with non-UIP diagnosis). RESULTS: There was an excellent interobserver agreement of both reviewers for overall ILF-RADS (K = 0.88, P = 0.001) with 95.4% agreement. There was an excellent interobserver agreement for overall pulmonary findings (K = 0.901, 95% CI = 0.877-0.926, P = 0.001), excellent interobserver agreement for seven items including lung volume, traction bronchiectasis, nodules, cysts, consolidation, emphysema, and complications and moderate interobserver agreement for six items including reticulations, honeycomb, ground glass, mosaic attenuation, and axial and zonal distribution. There was excellent interobserver agreement for overall extra-pulmonary findings (K = 0.902, 95% CI = 0.852-0.952, P = 0.001), excellent interobserver agreement for four items including mediastinum, pleura, visible abdomen, and soft tissue and bone and moderate interobserver agreement for trachea and main bronchi. There was excellent interobserver agreement for ILF-RADS score: ILF-RADS 1 (K = 0.84, P = 0.001), ILF-RADS 3 (K = 0.881, P = 0.001), and ILF-RADS 4 (K = 0.878, 95% CI = 0.743-1.0, P = 0.001) and moderate interobserver agreement for ILF-RADS 2 (K = 0.784, P = 0.001). CONCLUSION: ILF-RADS is a reliable reporting system which can be routinely performed for standard interpretation of ILD.