Journal of Case Reports and Clinical Studies

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. 

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.

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.