Clinical Medicine Insights. Case Reports

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...

Non-obstructive azoospermia (NOA) is the most difficult form of male infertility to manage. It usually requires sperm retrieval from the testis, which is most challenging due to sperm rarity. Here, we describe the recovery of testicular sperms that had been missing and whose original retrieval results were negative. Salvage microsurgical testicular sperm extraction and sperm testing were performed on a 36-year-old male with NOA. Neither in the operation room nor after an inspection in the embryology laboratory were any sperm detected...

BACKGROUND: According to Tonnessen BH (2011),1 iatrogenic arteriovenous (AV) fistulas in adults most commonly occur due to endovascular access and procedures. Rarely, AV fistulas have been reported in low birth weight neonates following repeating venipuncture. This complication is extremely uncommon in adults, but has been reported after routine venipuncture for blood transfusion. CASE PRESENTATION: We report the case of an elderly female patient who presented to the office for evaluation of left upper extremity swelling, ecchymosis, and dilated vessels after routine venipuncture at an outpatient laboratory...

Lambl's excrescence (LE), a rare thin linear fibrous thread of collagen and elastic fibrous tissue originating at closure margins of heart valve leaflets is considered a rare cause of thromboembolism, causing ischemic stroke, transient ischemic attack (TIA), acute coronary syndrome, or peripheral thromboembolism. The gold standard for diagnosing LE is transesophageal echocardiography (TEE). Due to the rarity of the disease and lack of significant research, no guidelines exist about the management of LE. Twenty-two papers about LE were reviewed, focusing on the management aspect aiming to assist in guideline publication...

Atrial septal defect (ASD) is a common congenital anomaly that increases the risk of heart failure as well as strokes which can lead to cognitive impairment. The risk of stroke is higher when pulmonary hypertension develops and there is reversal of shunt. Stroke in ASD may be due to paradoxical emboli from the right heart or a left ventricular thrombus which develops as a result of atrial fibrillation, a common arrhythmia in ASD. We present a case of a 32-year-old Ghanaian man with history of ASD who presented with progressive memory loss with magnetic resonance imaging scan of the brain showing multiple infarcts, microvascular disease, and cerebral atrophy...

It is already known that Coronavirus disease 2019 (COVID-19) may lead to various degrees and forms of lung parenchyma damage, but some cases take a strikingly severe course that is difficult to manage. We report the case of a 62-year old male, non-obese, non-smoker, and non-diabetic, who presented with fever, chills, and shortness of breath. The infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was diagnosed by real-time Polymerase Chain Reaction. Although the patient had been vaccinated with 2 doses of Pfizer-BioNTech COVID-19 vaccine 7 months earlier and had no risk factors for a severe outcome, serial computed tomography (CT) scan revealed lung involvement progressively extending from an initial 30% to 40% to almost 100% 2...