A newborn baby girl developed seizures right after birth. On the fourth day, the baby was examined using diffusion sequence magnetic resonance imaging (MRI) and diagnosed to have neonatal adrenoleukodystrophy. Laboratory findings confirmed the diagnosis. This is the first case of neonatal adrenoleukodystrophy (NALD) where diffusion MRI sequence helped in the diagnosis. We find association of NALD with seizures at birth is an extremely rare occurrence, and so far, only one case has been mentioned in the literature.
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http://dx.doi.org/10.4103/2156-7514.78530 | DOI Listing |
J Inherit Metab Dis
January 2025
Department of Neurology and Pediatric Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center, Amsterdam University Medical Center, Amsterdam, The Netherlands.
This study presents the longest systematic prospective follow-up of spinal cord disease in adult male ALD patients to date. Standardized yearly quantitative data collection included scoring of the EDSS, SSPROM, 6-min walking test (6MWT), urological and quality of life questionnaires and vibration sense of the hallux. Progression rates were compared between patients with mild (EDSS ≤ 2.
View Article and Find Full Text PDFBiomedicines
December 2024
Department of Biochemistry, Microbiology and Physics, Faculty of Agriculture, Trakia University, 6000 Stara Zagora, Bulgaria.
() strains and their postbiotics show potential for managing metabolic disorders such as diabetes and obesity. Two newly isolated strains, M2.1 and P4, were yielded from anthills in Sinite Kamani National Park, Bulgaria.
View Article and Find Full Text PDFFetal Pediatr Pathol
January 2025
Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Türkiye.
Ann Med
December 2025
Department of Basic Medical Sciences, College of Medicine & Center for Genetics and Inherited Diseases, Taibah University Medina, Medina, Saudi Arabia.
Background: Peroxisome biogenesis disorders (PBD) affect multiple organ systems. It is characterized by neurological dysfunction, hypotonia, ocular anomalies, craniofacial abnormalities, and absence of peroxisomes in fibroblasts. PBDs are associated with mutations in any of fourteen different genes, which are involved in peroxisome biogenesis.
View Article and Find Full Text PDFProg Retin Eye Res
December 2024
Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.
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