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Neuronal ceroid lipofuscinoses (NCLs) represent a heterogeneous group of inherited metabolic lysosomal disorders characterized by neurodegeneration. This study sought to describe the clinical and molecular characteristics of NCLs in Saudi Arabia and determine the most common types in that population. A retrospective review of electronic medical records was conducted for 63 patients with NCL (55 families) from six tertiary and referral centers in Saudi Arabia between 2008 and 2022. Clinical, radiological, and neurophysiological data as well as genetic diagnoses were reviewed. CLN6 was the predominant type, accounting for 45% of cases in 25 families. The most common initial symptoms were speech delay (53%), cognitive decline (50%) and/or gait abnormalities (48%), and seizure (40%). Behavioral symptomatology was observed in 20%, whereas visual impairment was less frequently (9.3%) encountered. Diffuse cerebral and cerebellar atrophy was the predominant finding on brain magnetic resonance imaging. Electroencephalography generally revealed background slowing in all patients with generalized epileptiform discharges in 60%. The most common genotype detected was the p.Ser265del variant found in 36% (20 of 55 families). The most rapidly progressive subtypes were CLN2 and CLN6. Two patients with each died at age five years. The earliest age at which a patient was nonambulatory was two years in a patient with CLN14. This is the largest molecularly confirmed NCL cohort study from Saudi Arabia. Characterizing the natural history of specific NLC types can increase understanding of the underlying pathophysiology and distinctive genotype-phenotype characteristics, facilitating early diagnosis and treatment initiation as well as genetic counseling for families. [ABSTRACT FROM AUTHOR]

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Background Assessment of liver lesions is constrained as CT radiation doses are lowered; evidence suggests deep learning reconstructions mitigate such effects. Purpose To evaluate liver metastases and image quality between reduced-dose deep learning image reconstruction (DLIR) and standard-dose filtered back projection (FBP) contrast-enhanced abdominal CT. Materials and Methods In this prospective Health Insurance Portability and Accountability Act-compliant study (September 2019 through April 2021), participants with biopsy-proven colorectal cancer and liver metastases at baseline CT underwent standard-dose and reduced-dose portal venous abdominal CT in the same breath hold. Three radiologists detected and characterized lesions at standard-dose FBP and reduced-dose DLIR, reported confidence, and scored image quality. Contrast-to-noise ratios for liver metastases were recorded. Summary statistics were reported, and a generalized linear mixed model was used. Results Fifty-one participants (mean age ± standard deviation, 57 years ± 13; 31 men) were evaluated. The mean volume CT dose index was 65.1% lower with reduced-dose CT (12.2 mGy) than with standard-dose CT (34.9 mGy). A total of 161 lesions (127 metastases, 34 benign lesions) with a mean size of 0.7 cm ± 0.3 were identified. Subjective image quality of reduced-dose DLIR was superior to that of standard-dose FBP ( P < .001). The mean contrast-to-noise ratio for liver metastases of reduced-dose DLIR (3.9 ± 1.7) was higher than that of standard-dose FBP (3.5 ± 1.4) ( P < .001). Differences in detection were identified only for lesions 0.5 cm or smaller: 63 of 65 lesions detected with standard-dose FBP (96.9%; 95% CI: 89.3, 99.6) and 47 lesions with reduced-dose DLIR (72.3%; 95% CI: 59.8, 82.7). Lesion accuracy with standard-dose FBP and reduced-dose DLIR was 80.1% (95% CI: 73.1, 86.0; 129 of 161 lesions) and 67.1% (95% CI: 59.3, 74.3; 108 of 161 lesions), respectively ( P = .01). Lower lesion confidence was reported with a reduced dose ( P < .001). Conclusion Deep learning image reconstruction (DLIR) improved CT image quality at 65% radiation dose reduction while preserving detection of liver lesions larger than 0.5 cm. Reduced-dose DLIR demonstrated overall inferior characterization of liver lesions and reader confidence. Clinical trial registration no. NCT03151564 © RSNA, 2022 Online supplemental material is available for this article.

Variant nomenclature discrepancy was identified in the article.