Clinical Medicine Insights. Case Reports

Secretory Breast Carcinoma (SBC) is a rare subtype of breast cancer, predominantly affecting young women, and characterized by hormone receptor-negative and HER2-negative tumors with distinctive histological features, including secretory droplets within tumor cells. This article presents 2 unique cases of SBC, Case 1 involving a 42-year-old woman with triple-negative mammary carcinoma later diagnosed with triple-negative secretory carcinoma, and Case 2 featuring a 48-year-old woman with poorly differentiated adenocarcinoma subsequently identified as invasive mammary carcinoma of secretory type...

INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) is a disease of multi-organ dysfunction due to excessive immune activation causing widespread inflammation and tissue destruction. It is a severe condition associated with high morbidity and mortality. Early identification is crucial for prompt treatment. The objective of this case series is to underscore the intricacy of managing HLH in individuals with renal dysfunction. METHODS: This is a retrospective study of patients diagnosed with HLH in a nephrology department over a period of 30 years...

INTRODUCTION: Epithelioid type inflammatory myofibroblastic sarcoma (EIMS) is a subtype of inflammatory myofibroblastic tumor (IMT). It consists of round or epithelioid cells, and almost all types of EIMS contain rearrangements of the anaplastic lymphoma kinase (ALK) gene. CASE PRESENTATION: We describe a 20-year-old female presenting with abdominal pain and a rapidly growing intraabdominal mass who underwent surgical tumor resection. She was diagnosed with EIMS...

INTRODUCTION: Small artery disease caused by neutrophils and immune-mediated is known as leucocytoclastic vasculitis (LCV). Clinically, it manifests as palpable, asymptomatic purpuric papules on the limbs. Ocular manifestation is rare. Here, we describe a case of peripheral ulcerative keratitis (PUK) associated with LCV. CASE PRESENTATION: A 59-year-old man was referred to the hospital with blurred vision due to corneal perforation in his left eye. He complained of itchy nodules on his hands and lower legs for 15 years and the skin biopsy of the back of his hand revealed LCV 6 years ago, which suggested erythema elevatum diutinum...

Mucosal leishmaniasis (ML) is a chronic and rare form of leishmaniasis that causes malignant lesions in the mucosa of the nasal, pharyngeal, and laryngeal regions. We describe a 29-year-old woman who had been suffering from an intranasal polyp for 3 years. The polyp recurred annually after surgical removal, and was diagnosed as nasal leishmaniasis.

BACKGROUND: Bardet-Biedl syndrome (BBS) also known as Laurence-Moon-Bardet-Biedl syndrome one of the rarely reported genetic disorder characterized by an intellectual disability, limb, kidney abnormalities, obesity, and Rod-cone dystrophy. Other associated condition includes diabetes mellitus, hypertension, hypogonadism, facial dysmorphism, and congenital heart defects. This case highlights megaloblastic anemia associated with BBS. CASE PRESENTATION: A 16-year-old female patient who had a moon face, truncal obesity, polydactyly, low IQ, and visual impairment presented with the complaint of shortness of breath and easy fatiguability...

The objective of this study was to evaluate the outcomes of the nasolabial flap in the management of oral submucous fibrosis (OSMF). The descriptive case series included 75 patients diagnosed with OSMF who underwent surgical intervention under general anesthesia. Preoperative mouth opening measurements were compared with postoperative measurements taken after 2 months. Regarding mouth opening, out of the 75 patients, 4 (5.3%) had unsatisfactory results after treatment, while 22 (29.3%) experienced satisfactory outcomes...

INTRODUCTION: The clinical picture of parathyroid tumors is mainly related to hypercalcemia such as kidney stones and bone and muscle pain. However, spontaneous cervical hemorrhage due to parathyroidoma bleeding is rare with clinical manifestations of the painful swelling and bruising of the neck accompanied by dysphagia and dyspnea. CASE PRESENTATION: We report a case of a 71-year-old female patient who presented with acute cervical swelling and extensive bleeding spreading from the neck to the abdomen and 2 flanks...

Cryptophthalmos is a rare congenital eye anomaly characterized by the absence of the palpebral fissure. Cryptophthalmos is often associated with Fraser's syndrome. We present a case of 3 days old female Asian neonate with complete unilateral cryptophthalmos, with the absence of a right eyelid. On inspection, there is an absence of eyelid, eyebrow and eyelashes in the right eye, collectively known as adnexal structures. The left eye was apparently normal. As per the parent's decision, surgical intervention was not pursued due to the poor visual prognosis...

BACKGROUND: Primary deficiency of coenzyme Q10 deficiency-4 (CoQ10 D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia. CASE REPORT: We provide a case of adolescence-onset ataxia, head tremor, and proximal muscle weakness accompanied by psychiatric features and abnormal serum urea (49.4 mg/dL), lactate (7.5 mmol/L), and CoQ10 level (0.4 µg/mL)...

This case report describes a 23-year-old male patient who presented with right chylothorax as the initial manifestation of a severe flare of systemic lupus erythematosus (SLE) and secondary Evans syndrome. Chylothorax and chylous ascites are rare features of SLE that can occur due to the accumulation of triglyceride-rich fluid in serous cavities. However, they have never been reported as the initial manifestation of a lupus flare. Evans syndrome is a rare disease characterized by autoimmune hemolytic anemia and immune thrombocytopenia, which can be secondary to SLE...

Acute colonic pseudo-obstruction (ACPO), known as Ogilvie Syndrome, is an acute dilation of the colon in the absence of an underlying mechanical or anatomic cause. Neostigmine treatment is indicated following failed conservative management of ACPO, however neostigmine has its contraindications. This is a report of a unique case of a patient with a past medical history of symptomatic first degree heart block with a permanent pacemaker who received a bolus dosage of neostigmine treatment for ACPO in an ICU setting...

Dopamine agonists are the first-line treatment of prolactinomas. The risk of developing de novo psychiatric symptoms during dopamine agonist therapy is low. Herein, we report the case of a 42-year-old woman with a giant prolactinoma who developed a psychiatric disorder after 1 day of cabergoline therapy initiation. She presented with amenorrhea, galactorrhea, headaches, and disturbed vision. Biological investigations revealed hyperprolactinemia (2975 ng/ml) with gonadotropin deficiency. Pituitary MRI showed a giant pituitary adenoma...

Dent's disease is a rare genetic kidney disorder characterized by proximal tubular dysfunction, nephrocalcinosis, recurrent nephrolithiasis, and chronic kidney disease. Hypercalcemia is a rare finding in this disease. In this report, we present a case of possible Dent's disease in a young adult male with hypercalcemia and chronic kidney disease. The diagnosis was evoked based on the presence of low-molecular-weight proteinuria, kidney stones, and renal failure. This case underscores the significance of considering Dent's disease as a potential diagnosis, even in patients with chronic renal disease who exhibit hypercalcemia...

Coronary perforation (CP) is a rare complication of percutaneous coronary intervention (PCI) and can lead to pericardial tamponade. Prolonged balloon inflation is a reasonable treatment for CP, but there is no standard recommendation on the preferable choice between the balloon site for prolonged balloon inflation (ie, proximal and in situ of the perforation). We present a rare case of successful prolonged balloon inflation at the proximal site of the CP after the failure of balloon inflation at the site of perforation...

Subacute thyroiditis (SAT) is a self-limited inflammatory disease and a rare cause of thyrotoxicosis. Although the exact etiology of SAT is not sufficiently understood, it is generally associated to viral infections. Current evidence highlights that SAT may be a potentially uncommon manifestation of ongoing Coronavirus disease 2019 (COVID-19) infection or a post-viral complication of the disease. Despite that SAT is a rare manifestation associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) disease both in ongoing and resolved COVID-19 infection, the ever-increasing numbers of COVID-19 patients strengthens the possibility that this particular disease entity will be of more immediate concern in the future...

Coronavirus Disease 2019 (COVID-19) was first identified in Wuhan province in China in late 2019. Around 15% of patients that develop severe acute respiratory syndrome from COVID-19 also develop severe COVID-19 pneumonia. Since the pandemic's start, various treatments including remdesivir, dexamethasone, baricitinib, convalescent plasma, and tocilizumab have been approved by the Center for Disease Control (CDC). We present a case of a 62-year-old male hospitalized due to COVID-19 pneumonia and was initially treated with methylprednisolone and remdesivir, and later with tocilizumab...

Immunoglobulin G4-related disease (IgG4-RD) is an autoimmune-mediated disorder with heterogeneous multiorgan manifestations. Early identification and treatment of IgG4-RD are crucial for organ function recovery. Rarely, IgG4-RD manifests as a unilateral renal pelvic soft tissue mass that may be misdiagnosed as urothelial malignancy, resulting in invasive surgical intervention and organ damage. Here we present a 73-year-old man who had a right ureteropelvic mass with hydronephrosis detected by enhanced computed tomography...

BACKGROUND: Juvenile dermatomyositis (JDM) is an autoimmune connective tissue disorder characterized by an inflammation of proximal muscles of both upper and lower limbs in children below the age of 18 years. The condition mainly involves the proximal muscles and skin but extra-muscular involvement such as the gastrointestinal tract, lungs, and heart are also common. CASE PRESENTATION: We present a case of a 12-year-old south Asian male who developed weakness and muscular pain in all 4 extremities at 3 years of age...

BACKGROUND: Fahr's syndrome a rare neurological condition characterized by an abnormal basal ganglia calcification. The condition has both genetic and metabolic causes. Here, we describe a patient who had Fahr's syndrome and basal secondary to hypoparathyroidism, and her calcium level raised after the administration of steroid therapy. CASE REPORT: We presented a case of a 23-year-old female with seizures. Associated symptoms included headache, vertigo, disturbed sleep, and reduced appetite...