Quantitative MRI evaluation of bone marrow in sickle cell disease: relationship with haemolysis and clinical severity.

AIM: To evaluate bone marrow fat fraction using the Dixon technique (FFDix) of magnetic resonance imaging (MRI) as a potential biomarker of haemolysis and clinical severity in the overall assessment and follow-up of sickle cell disease (SCD) patients. MATERIAL AND METHODS: The present study was a cross-sectional study in which healthy individuals and SCD patients (matched for age, sex, and weight) were subjected to MRI of the lumbar spine and pelvis to quantify FFDix in the bone marrow using the Dixon technique. SCD severity was analysed by clinical and laboratory data, and an online calculator. A high degree of haemolysis was defined using the cut-off values haemoglobin (Hb) ≤10 g/dl, lactate dehydrogenase (LDH) ≥325 U/l, reticulocytes ≥3% and total bilirubin (TB) ≥1.2 mg/dl. Pearson's correlation, receiver operating characteristic (ROC) curve and binary logistic regression analysis were performed. RESULTS: Forty-eight SCD patients (26 homozygous: HbSS and 22 compound heterozygous: HbSC) and 48 healthy individuals participated in the study. FFDix was lower in SCD patients than in the control group, showing even lower values in the HbSS subtype and patients with a higher degree of haemolysis. HbSC patients with a higher degree of haemolysis using hydroxyurea (medium dosage 9.8 mg/kg/day) had lower FFDix. ROC curves and odds ratios for detecting patients with a higher degree of haemolysis at the different FFDix measurement sites demonstrated excellent performance: iliac bones (cut-off ≤16.75%, AUC = 0.824, p<0.001), femoral heads (cut-off ≤46.7%, AUC = 0.775, p=0.001), lumbar vertebrae (cut-off ≤7.8%, AUC = 0.755, p=0.002). CONCLUSION: Decreased FFDix is indicative of higher degree of haemolysis and SCD severity with great potential as a non-invasive biomarker contributing to the overall assessment and follow-up of SCD patients.

MRI findings of the cervical spine in patients with mucopolysaccharidosis type VI: relationship with neurological physical examination.

AIM: To describe the magnetic resonance imaging (MRI) findings of the cervical spine of patients with mucopolysaccharidosis type VI (MPS VI) and correlate them with clinical manifestations. MATERIALS AND METHODS: This is a cross-sectional study involving 12 patients with MPS VI. A limited neurological examination was undertaken in each patient including Tinel's test, assessment of muscle tone, and the evaluation of deep tendon reflexes. Additionally, each patient underwent cervical spine MRI to evaluate platybasia, odontoid dysplasia, periodontoid soft-tissue thickening, spinal canal stenosis, myelopathy, basilar invagination, platyspondyly, and reduction of nasopharyngeal airway. RESULTS: Nine patients were male (75%). The average age was 12.5 (±3.5 years). Tinel's test was negative in all patients. No muscle tone abnormalities were observed. Approximately 48% of the tested reflexes were considered abnormal, 10 of which (8.3%) were pathological occurring in five different patients (41.6%). At MRI, all patients showed periodontoid soft-tissue thickening and cervical spinal stenosis; six showed spinal cord compression and two showed myelopathy. Odontoid hypoplasia and basilar invagination were observed in nine patients. All patients with cervical stenosis on MRI had abnormal reflexes; however, only two of the six patients with evidence of cord compression on MRI had abnormal reflexes on clinical examination. CONCLUSIONS: The present study of 12 patients with MPS VI demonstrated that a normal neurological examination cannot confidently exclude potential cord compression in patients with this condition. MRI may aid in the timely identification of cervical spine abnormalities, and potentially play a role in lessening morbidity and mortality in patients with MPS.