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Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy.
Acta Neurol Belg
January 2025
Department of Pediatrics, Neurology Unit, University of Health Sciences, Ankara Etlik City Hospital, Ankara, Turkey.
Introduction: Zellweger spectrum disorder (ZSD) refers to a group of autosomal recessive genetic disorders that affect multiple organ systems and are predominantly caused by pathogenic variants in PEX genes. ZSD present a wide clinical spectrum, ranging from the most severe form, Zellweger syndrome, to the mildest form, Heimler syndrome.
Case Report: A 14-month-old male patient was brought to our clinic with recent-onset ocular tremors and unsteady gait.
The effects of type 1 and type 2 diabetes mellitus on bone health in chronic kidney disease.
Nat Rev Endocrinol
January 2025
Department of Renal Medicine, Westmead Hospital, Westmead, New South Wales, Australia.
Fracture is an under-recognized but common complication of diabetes mellitus, with an incidence approaching twofold in type 2 diabetes mellitus (T2DM) and up to sevenfold in type 1 diabetes mellitus (T1DM) compared with that in the general population. Both T1DM and T2DM induce chronic hyperglycaemia, leading to the accumulation of advanced glycosylation end products that affect osteoblast function, increased collagen crosslinking and a senescence phenotype promoting inflammation. Together with an increased incidence of microvascular disease and an increased risk of vitamin D deficiency, these factors reduce bone quality, thereby increasing bone fragility.
View Article and Find Full Text PDFSevere Symptomatic Anemia as a Rare Initial Manifestation of Type 3 Polyglandular Autoimmune Syndrome: A Case Report.
Cureus
December 2024
Division of Internal Medicine, Unidade Local de Saúde de Braga, Braga, PRT.
Autoimmune polyglandular syndrome type 3 (APS-3) is an uncommon condition marked by autoimmune thyroid disease (ATD) linked with other autoimmune issues, excluding Addison's disease. We report a case of a 41-year-old man who was hospitalized due to exhaustion and macrocytic anemia, later diagnosed with APS-3, which included Hashimoto's thyroiditis, pernicious anemia resulting from autoimmune gastritis, and pre-existing vitiligo. Diagnostic results indicated positive intrinsic factor antibodies, a gastric biopsy compatible with gastritis, elevated thyroid peroxidase antibodies, and significant findings from a thyroid ultrasound.
View Article and Find Full Text PDFKikuchi-Fujimoto disease associated optic neuropathy in an adolescent.
Am J Ophthalmol Case Rep
March 2025
Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York Presbyterian Hospital, New York, NY, USA.
Purpose: We present a case of Kikuchi-Fujimoto Disease (KFD) associated with bilateral optic neuropathy progressing to vision loss.
Observations: A 17-year-old male was referred for bilateral optic nerve pallor. Eight years prior, he was diagnosed with KFD after workup for lymphadenopathy and treated with prednisolone acutely followed by long-term Plaquenil.
[Small intestine bacterial overgrowth: Myths and realities].
Aten Primaria
January 2025
Medicina Familiar y Comunitaria, Centro de Salud Los Ángeles, Madrid; Grupo de trabajo de Patología digestiva y hepática de la semFYC; Grupo de trabajo de Digestivo de la SoMaMFyC, España.
The small intestine bacterial overgrowth (SIBO) is a clinical disorder resulting from colonization of the small intestine by an excessive number of microorganisms or by unusual microorganisms. When they are methane producers it is called intestinal methanogen overgroth (IMO). Known risk factors are congenital or acquired anatomical alterations, motility alterations, some systemic and autoimmune diseases, those that cause alterations in biliopancreatic secretions, hypochlorhydria and some drugs.
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