METHODS: A retrospective review of the data registry in Kuwait Medical Genetics Center for all cases diagnosed clinically and radiographically and confirmed genetically with BTBGD.
RESULTS: Twenty one cases from 13 different families were diagnosed with BTBGD in Kuwait. Most cases (86%) presented with confusion, dystonia, convulsions, or dysarthria, while three individuals were diagnosed pre-symptomatically during familial targeted genetic screening. Symptoms resolved completely within 2-week of treatment in two-thirds of the symptomatic cases but progressed in six of them to a variety of severe symptoms including severe cogwheel rigidity, dystonia and quadriparesis due to delayed presentation and management. Neuroradiological findings of the symptomatic cases revealed bilateral central changes in the basal ganglia. Two novel homozygous missense SLC19A3 variants were detected in a Kuwaiti and a Jordanian individuals, in addition to the previously reported Saudi founder homozygous variant, c.1264A > G; p.(Thr422Ala) in the remaining cases. Age of diagnosis ranged from newborn to 32 years, with a median age of 2-3 years. All cases are still alive receiving high doses of biotin and thiamine.
CONCLUSION: This is the first study reporting the phenotypic and genotypic spectrum of 21 individuals with BTBGD in Kuwait and describing two novel SLC19A3 variants. BTBGD is a treatable neurometabolic disease that requires early recognition and treatment initiation. This study highlights the importance of performing targeted molecular testing of the founder variant in patients presenting with acute encephalopathy in the region.
AIM: To compare the quality of CT brain images produced by a fixed CT scanner and a portable CT scanner (CereTom).
METHODS: This work was a single-centre retrospective study of CT brain images from 112 neurosurgical patients. Hounsfield units (HUs) of the images from CereTom were measured for air, water and bone. Three assessors independently evaluated the images from the fixed CT scanner and CereTom. Streak artefacts, visualisation of lesions and grey-white matter differentiation were evaluated at three different levels (centrum semiovale, basal ganglia and middle cerebellar peduncles). Each evaluation was scored 1 (poor), 2 (average) or 3 (good) and summed up to form an ordinal reading of 3 to 9.
RESULTS: HUs for air, water and bone from CereTom were within the recommended value by the American College of Radiology (ACR). Streak artefact evaluation scores for the fixed CT scanner was 8.54 versus 7.46 (Z = -5.67) for CereTom at the centrum semiovale, 8.38 (SD = 1.12) versus 7.32 (SD = 1.63) at the basal ganglia and 8.21 (SD = 1.30) versus 6.97 (SD = 2.77) at the middle cerebellar peduncles. Grey-white matter differentiation showed scores of 8.27 (SD = 1.04) versus 7.21 (SD = 1.41) at the centrum semiovale, 8.26 (SD = 1.07) versus 7.00 (SD = 1.47) at the basal ganglia and 8.38 (SD = 1.11) versus 6.74 (SD = 1.55) at the middle cerebellar peduncles. Visualisation of lesions showed scores of 8.86 versus 8.21 (Z = -4.24) at the centrum semiovale, 8.93 versus 8.18 (Z = -5.32) at the basal ganglia and 8.79 versus 8.06 (Z = -4.93) at the middle cerebellar peduncles. All results were significant with P-value < 0.01.
CONCLUSIONS: Results of the study showed a significant difference in image quality produced by the fixed CT scanner and CereTom, with the latter being more inferior than the former. However, HUs of the images produced by CereTom do fulfil the recommendation of the ACR.