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Presentation and outcome of Alagille syndrome in paediatric patients at State Academic Hospital in South Africa.
Sudan J Paediatr
January 2024
Department of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder in which patients may have characteristic facial features and involvement of the liver, heart, vessels, bones, eyes, kidneys and central nervous system. As there is little published data on ALGS in Africa, our aim was to describe the presentation and outcomes of ALGS in South Africa. The study constitutes a retrospective analysis of 25 patient medical records diagnosed as ALGS at Chris Hani Baragwanath Academic Hospital Pediatric Gastroenterology clinic between January 1992 and January 2020.
View Article and Find Full Text PDFPhakomatosis pigmentovascularis type 2a: a rare case report.
AME Case Rep
December 2024
Department of Dermatology, King Fahad Medical City, Riyadh, Saudi Arabia.
Background: Phakomatosis pigmentovascularis (PPV) is a rare congenital cutaneous syndrome characterized by capillary malformation and extensive dermal melanosis. The complexity of PPV is reflected in its evolving classification systems. Systemic manifestations encompass ocular, neurological, vascular, musculoskeletal, and renal involvement.
View Article and Find Full Text PDFValidation of Indonesian Graves' Ophthalmopathy Quality of Life Questionnaire and Its Association with Clinical Activity and Severity of Graves' Ophthalmopathy.
Acta Med Indones
October 2024
Residency Program in Ophthalmology, Faculty of Medicine Universitas Indonesia - Dr. Cipto Mangunkusumo Hospital, Jakarta, Indonesia.
Background: Graves' ophthalmopathy (GO) ocular abnormalities can persist even after treatment, negatively impacting patients' psychological and social health. The Indonesian Graves' Ophthalmopathy Quality of Life (GO-QoL) Questionnaire has not been validated, hence it cannot measure patient quality of life, which is crucial to GO treatment. We aimed to provide a reliable Indonesian GO-QoL Questionnaire and identify an association between patient quality of life and clinical activity and the severity of GO.
View Article and Find Full Text PDFTopographic corneal changes in children with moderate to severe blepharokeratoconjunctivitis.
J AAPOS
January 2025
Department of Ophthalmology, University of California San Francisco, San Francisco, California. Electronic address:
Purpose To determine the corneal topographic characteristics of children with blepharokeratoconjunctivitis (BKC), a chronic inflammatory ocular surface disease involving the lid margin, conjunctiva, and cornea. Methods The corneal topography of 21 children diagnosed with BKC between March 2008 and June 2019 at a single institution were reviewed retrospectively. Pachymetry and asymmetry indices were also analyzed.
View Article and Find Full Text PDFPurpose: Carotid-cavernous fistulas (CCFs) are abnormal connections between the carotid artery and cavernous sinus, often causing ocular symptoms like chemosis, proptosis, and diplopia. Endovascular embolization is the preferred treatment, typically performed via the transfemoral transvenous route through the inferior petrosal sinus (IPS). However, we present a case and a systematic review of indirect CCF treated through deep orbital puncture of the superior ophthalmic vein (SOV) for embolization.
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