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Journal of Case Reports and Clinical Studies
Latest Articles
Report of an Iranian child with developmental motor delay and renal and hepatic complications diagnosed as a Glycogen storage disease type 1a: A case report
Daniel Zamanfar , Seyed MohammadBagher Hashemi-Soteh , Mobin Ghazaiean , Elham Keyhanian
Background: Glycogen storage disease type 1a (GSD-1a) is the most common form of GSDs, accounting for 80% of these cases. Here we present a 16-month-old boy being treated for GSD-1a at our clinic. Case presentation: Given that the patient was not examined and diagnosed prior to referral to our clinic, mitochondrial disease due to developmental delay, high lactate levels, and lack of hypoglycemia was treated first.
J Case Rep Clin Stud, 2025, Volume 1, Issue 1, p1-4 | DOI: 10.46439/casereports.1.001
Late-onset panuveitis in a Chinese girl with sporadic Blau syndrome: A case report
Ma Zicheng , Gao Xinxiao , Zhu Siquan
We present a case of late-onset eye manifestations in a Chinese girl of 18 years old with sporadic BS, presenting only mild eye inflammation. We performed comprehensive ocular examinations including fluorescein fundus angiography (FFA) and indocyanine green angiography (ICG) for her. The oral hormone plus local anti-inflammatory eye drops have well controlled the inflammation of her eyes.
J Case Rep Clin Stud, 2025, Volume 1, Issue 1, p5-8 | DOI: 10.46439/casereports.1.002
Surgical Approach to Pemphigus Vulgaris in the Lacrimal Punctum: A Case Report
Dafne Fernandes Machado , VinÃcius Tabatinga do Rego Lopes , Carolina Rodrigues Barreto Mendes , Larissa Caroline Mansano Soares
Pemphigus comprises a rare but potentially life-threatening group of autoimmune bullous dermatoses that primarily affect the skin and mucous membranes. Histopathologically, it is characterized by the presence of intraepidermal acantholysis and deposition of IgG autoantibodies against desmosomal cadherins, notably desmoglein 1 (Dsg1) and desmoglein 3 (Dsg3), leading to compromised intercellular adhesion among keratinocytes.
J Case Rep Clin Stud, 2025, Volume 1, Issue 1, p12-13 | DOI: 10.46439/casereports.1.004
An uncommon impacted laryngeal foreign body: A case report
Sanda AL , Adekoya VA , Nwawolo CC , Idowu MO
Foreign body (FB) aspiration is an uncommon but a life-threatening emergency. It occurs more commonly among children than in adults [1]. The prevalence ranges from 57% to 80% among children under five years of age [2].
J Case Rep Clin Stud, 2025, Volume 1, Issue 1, p14-17 | DOI: 10.46439/casereports.1.005