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.

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].

Solid Papillary Carcinoma (SPC) is a rare sub-type of breast cancer essentially observed in postmenopausal women, accounting for less than one percent of all breast malignancies. It usually presents as a palpable mass or bloody nipple discharge. We report a case of a forty one year old pre-menopausal female presenting with a long-standing lump in the retro-areolar region of the breast. Imaging and biopsy initially suggested invasive ductal carcinoma.

Alkaptonuria is an uncommon autosomal recessive disorder of tyrosine metabolism. It poses a significant anesthetic challenge due to systemic ochronosis, which is caused by the deposition of ochronotic pigments in connective tissues. We report the case of a 68-year-old male with alkaptonuria who required surgical fixation for a D11 fracture.

Background: Glycogen storage disease type 1a (GSD-1a) is a rare autosomal recessive metabolic disorder caused by a deficiency in the glucose-6-phosphatase enzyme. It commonly presents in infancy with fasting hypoglycemia, hepatomegaly, and metabolic disturbances. In resource-limited settings like Somalia, diagnosis and management are significantly hampered by the lack of advanced diagnostic facilities and nutritional support.

Background: Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA deletion disorder presenting before the age of 20 years, characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and systemic manifestations including cardiac, endocrine, and neurological features. Early recognition remains challenging due to its heterogeneous and evolving phenotype.

Background: Myiasis refers to the infection of vertebrate tissues by dipteran fly maggots. The most well-known causal organism is Dermatobia hominis, a human botfly. Case presentation: A 24-year-old female residing in Asmara, Eritrea, presented herself at the emergency room after experiencing a foreign body sensation for six days, with a history of multiple painful and pruritic nodules on 8th September 2025 at Halibet Referral Hospital. 

Patients with primary adrenal insufficiency require stress-dose glucocorticoids during acute illness to prevent adrenal crisis. We report twin patients with von Hippel–Lindau syndrome status post bilateral adrenalectomy who presented concurrently with symptomatic SARS-CoV-2 infection but experienced markedly different clinical courses based on adherence to stress-dose steroid recommendations. 

Background: Tuberculous pericarditis is a rare manifestation of tuberculosis in developed countries and poses a significant diagnostic challenge due to its nonspecific clinical presentation. Immunocompromised individuals, particularly those receiving tumor necrosis factor-alpha (TNF-α) inhibitors, are at substantially increased risk of developing tuberculosis. Therefore, screening for tuberculosis infection and active disease is essential prior to initiating biological therapy.

Susac syndrome is a rare autoimmune endotheliopathy characterized by encephalopathy, branch retinal artery occlusion (BRAO), and sensorineural hearing loss (SNHL). Due to its diverse presentation, it is often misdiagnosed. We report a case of a 22-year-old female with progressive neurological symptoms, hearing loss, and cognitive dysfunction. Brain MRI revealed characteristic corpus callosum “snowball” lesions, and further investigations confirmed BRAO and SNHL.