ASIDE Case Reports
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Noonan Syndrome and Osteoporosis: A Comprehensive Case Study and Literature Review
Get PDFoai:ojs2.asidejournals.com:article/20Noonan syndrome (NS) is a genetic disorder caused by mutations in the RAS/MAPK signaling pathway, typically characterized by unique physical features, congenital heart defects, and short stature. Osteoporosis (OP), although uncommon in NS, can significantly impact patients\u27 quality of life. We report the case of a 60s-year-old male with NS who experienced progressive osteoporosis over seven years. Dual-energy X-ray absorptiometry (DEXA) scans revealed a marked decline in bone mineral density (BMD) accompanied by multiple fractures. Despite normal vitamin D and parathyroid hormone intact levels, the patient’s BMD continued to deteriorate, leading to vertebral compression fractures that necessitated surgical intervention. This case highlights the importance of early osteoporosis screening and prompt management in NS patients to prevent severe complications. Further research is warranted to explore the mechanisms underlying bone fragility in NS and to develop targeted therapeutic strategies
Outcome of Kidney Transplant Patients Following Treatment with Checkpoint Inhibitors: A Case Series
Get PDFImmune checkpoint inhibitors (ICIs) have revolutionized cancer treatment by enhancing immune surveillance against tumors. However, their use in kidney transplant recipients presents a significant challenge due to the risk of immune-mediated graft rejection. This retrospective case series highlights four kidney transplant recipients treated with ICIs for various malignancies, revealing the complex interplay between oncologic outcomes and transplant function. Two of four patients developed severe acute kidney injury (AKI), leading to dialysis-dependent graft loss despite high-dose corticosteroid therapy. One patient exhibited partial renal recovery following transient dialysis. In contrast, another patient maintained stable graft function despite prolonged ICI therapy. Oncologic outcomes varied, with two patients achieving significant tumor regression, while others experienced disease progression. These cases underscore the need for careful immunosuppressive management and close monitoring when administering ICIs in transplant recipients. The findings emphasize the importance of individualized treatment strategies to optimize both cancer control and graft survival
Amiodarone-Induced Thyrotoxicosis Presenting as Congestive Heart Failure Exacerbation and Thyroid Storm: Role of Plasmapheresis in Management and Prevention of Complications
Get PDFAmiodarone-induced thyrotoxicosis (AIT) is a subtype of thyrotoxicosis caused by the long-term administration of the antiarrhythmic drug amiodarone. It’s classified into type 1 AIT, which is defined as hypersecretion of the thyroid hormone, while type 2 AIT is destructive thyroiditis leading to increased release of thyroid hormone. Each type has its special management and diagnostic features. We report a case of a 72-year-old male with a history of heart failure with reduced ejection fraction (HFrEF) and type 2 diabetes mellitus (DM) who presented with congestive heart failure (CHF) exacerbation and symptoms of an impending thyroid storm. After the diagnosis of type 2 AIT, medical treatment, as well as plasmapheresis, was initiated. In further admissions, the patient returned with ventricular tachycardia and right subclavian deep venous thrombosis due to recurrent catheterization and a hypercoagulable state. The diagnostic workup revealed elevated free T4, suppressed TSH, and initially elevated AST and ALT, which normalized subsequently. Imaging showed decreased thyroid vascularity. This case report highlights the importance of distinguishing between AIT types, tailoring optimal treatment decisions, closely monitoring and following up on such cases, and adhering to treatment to prevent catastrophic complications. Further research is necessary to identify early markers of amiodarone toxicity to prompt early diagnosis and better prognosis
Autism Spectrum Disorder in a Rural Pakistani Child with a History of Early Excessive Screen Exposure: A Case Report
Get PDFDeficits in communication, social interaction, and behavior mark autism spectrum disorder (ASD). In low-resource settings, diagnostic delays and excessive early screening exposure complicate clinical profiles and access to therapy. We present a 7-year-old female from a rural community in Pakistan who presents with profound regression in speech, social interaction, and adaptive behavior. A child psychiatrist used DSM-5 criteria to diagnose ASD, which should be regarded as a working clinical impression. The child had no prior family history of neurodevelopmental disorders. Still, beginning in infancy, the patient had a history of extended unsupervised mobile screen exposure (3–5 hours/day of animated content). Symptoms included echolalia, idiosyncratic language, violence toward animals and peers without remorse, toileting difficulties, and emotional detachment. Carers reported fewer violent outbursts (from daily to 1-2/week) and better sleep (from 3-4 to 6-7 hours/night). Over the course of six months, risperidone (up to 1 mg/day) and carbamazepine (200 mg/day) partially improved aggression (from daily to 1-2 times/week) and sleep (from 3 to 7 hours/night), but social and language impairments remained. There were confounding variables, such as low socioeconomic position, and no standardized developmental assessments were conducted. This single case suggests that excessive early screen time may be associated with or modulate neurodevelopment. Due to the dearth of research and the absence of standardized ASD tests, it is not possible to conclude on screen time. This case illustrates gaps in ASD diagnosis and management and emphasizes the need for awareness campaigns, low-cost therapies, and culturally contextualized interventions
Hyponatremia-Induced Rhabdomyolysis in a Patient with Psychogenic Polydipsia: A Case Report
Get PDFHyponatremia is a common electrolyte abnormality that can lead to various complications, including rhabdomyolysis. Observational studies have identified a correlation between hyponatremia and the occurrence of rhabdomyolysis in hospitalized patients. We report a 45-year-old male with a medical history of hypertension, hyperlipidemia, and a congenital neurological defect featuring an 8 cm right frontal porencephalic cyst communicating with the right lateral ventricle, colpocephaly, congenital left hemiparesis, paranoid schizophrenia, anxiety, and depression. He presented with rhabdomyolysis caused by hyponatremia and aggravated by psychogenic polydipsia. A hyponatremic state caused by psychogenic polydipsia may induce rhabdomyolysis in patients with a genetic predisposition. Hence, monitoring muscle markers in these patients is crucial, with further evidence needed to establish hyponatremia as the primary cause of rhabdomyolysis in the absence of other confounders
Benign Pheochromocytoma Coming Back with Bony Metastasis: A Case Report and Literature Review
Get PDFPheochromocytoma is an uncommon adrenal medulla tumor that secretes catecholamines. It is usually a benign condition and is generally treated with adrenalectomy; in a small proportion of cases, however, it might return or spread. Pheochromocytoma is uncommon to recur or metastasize, meaning every reported case is clinically relevant.
A 46-year-old Caucasian woman initially presented with conventional catecholamine excess symptoms—refractory hypertension, palpitations, diaphoresis, and headaches. Imaging showed a sizable right adrenal mass; biochemical testing indicated very high plasma metanephrines. A medical decision was made to perform a right adrenalectomy; pathology confirmed a benign pheochromocytoma. After surgery, her symptoms went away, but she was missed for follow-up. Four years later, she came back with comparable symptoms; biochemical screening found increased metanephrines once more, and a computed tomography (CT) scan revealed local recurrence in the right adrenal bed. Notably, the CT also disclosed a lytic lesion in a lumbar vertebra and evidence of bone metastases from the pheochromocytoma. This instance highlights a rare situation in which a pheochromocytoma, initially thought to be innocuous, reoccurred with distant skeletal involvement.
In conclusion, a very rare, recurrent pheochromocytoma with bone metastases underscores the importance of continuous monitoring even after complete tumor removal. Early recognition of metastasis or relapse can significantly impact therapy and outcomes. This case highlights the necessity of ongoing follow-up in patients with pheochromocytoma and alerts individuals to potential late metastatic symptoms
Portal Venous Gas Following Laparoscopic Rectal Surgery: A Case Report of Internal Herniation without Bowel Necrosis
Get PDFThe presence of free air (pneumatosis) in the main and intrahepatic portal veins generally indicates acute mesenteric ischaemia, often accompanied by bowel necrosis. Internal herniation (IH) is a rare but serious complication of laparoscopic rectal surgery, where the mesenteric window is deliberately left open. IH, followed by mechanical intestinal obstruction, can cause intestinal damage, ischaemia, and necrosis, which may manifest as hepatic portal venous gas (HPVG) on imaging. In cases linked to IH, mesenteric ischaemia often results in a severe and potentially fatal clinical course. Here, despite computerised tomography findings suggestive of advanced ischaemia, a young patient underwent successful surgical intervention for IH. Rapid diagnosis and prompt emergency surgery enabled the reduction of the herniation without bowel resection, preventing progression to irreversible complications. Although leaving mesenteric windows open maintains anastomotic perfusion, this practice may carry a risk of IH in selected patients. Importantly, no bowel resection was needed, illustrating the importance of early detection. Further comprehensive studies are recommended to explore this issue
A Hidden Carcinoma with Mixed Squamous and Neuroendocrine Differentiation Revealed Through Paraneoplastic Hypercalcemia: A Case Report
Get PDFHypercalcemia of malignancy is most associated with squamous cell carcinomas, but can also be observed in many advanced cancers. It is usually mediated through parathyroid hormone-related protein and is known as humoral hypercalcemia of malignancy. We present a rare case of humoral hypercalcemia of malignancy associated with a poorly differentiated carcinoma exhibiting both neuroendocrine and epithelial differentiation.
A 67-year-old man was found to have elevated serum calcium on presentation to the emergency department for shortness of breath and abdominal pain. Further investigation revealed low serum parathyroid hormone (indicating a non-parathyroid etiology of hypercalcemia) and elevated serum parathyroid hormone-related protein (supporting a diagnosis of humoral hypercalcemia of malignancy). Imaging revealed numerous disseminated subcutaneous nodules, peritoneal carcinomatosis with liver, cecal, lymph nodes, and bone metastases. Histopathology and immunohistochemistry revealed a poorly differentiated carcinoma exhibiting features of both squamous and neuroendocrine differentiation, along with a high level of cell proliferation. The patient was treated with intravenous fluids and intravenous bisphosphonates as per hypercalcemia management guidelines, with only minimal improvement in his serum calcium level. Our patient succumbed to the metabolic complications within a few days of presentation before the primary site could be identified or definitive treatment could be initiated.
Hypercalcemia of malignancy is a common presentation of advanced cancer and is associated with poor prognosis. We describe a case of hypercalcemia of malignancy in a patient with a poorly differentiated carcinoma of unknown primary origin with neuroendocrine and squamous differentiation, which is a rare phenomenon
Thyroid Hormone Resistance Syndrome: A Case Report with Literature Review
Get PDFResistance to thyroid hormone receptor beta (THRβ) is a rare condition causing abnormal thyroid function tests (TFTs) characterized by elevated thyroid hormone levels with unsuppressed Thyroid Stimulating Hormone (TSH). Thyroid hormone action involves multiple steps, and mutations affecting these steps are key to understanding and managing thyroid disorders. We present a case of THRβ resistance associated with cardiac arrhythmia. A 40-year-old male with a history of atrial fibrillation (AF) was referred for evaluation of abnormal TFTs and thyroid nodules. TFTs revealed a normal TSH and elevated free thyroxine. Imaging showed a large, peripherally enhancing necrotic mass with calcification in the left thyroid lobe and a 0.8 cm hypodense area in the right lobe. Thyroid ultrasound confirmed bilateral nodules, with the largest in the lower pole of the left lobe. The fine-needle aspiration biopsy was benign (Bethesda category II). Inherited THRβ pathogenic variants cause thyroid hormone resistance, often resulting in an enlarged thyroid gland. Despite this resistance, patients may still show clinical signs of cardiac arrhythmias. Diagnosing thyroid hormone resistance helps avoid unnecessary treatment for asymptomatic patients
Management of Venous Thromboembolism in a Patient with Duplicated Inferior Vena Cava: A Case Report and Literature Review
Get PDFAnatomic variations of the inferior vena cava (IVC) are rare, occurring in less than 3% of the population, yet they can pose significant clinical and procedural challenges. We report the case of a 68-year-old male with a contraindication to anticoagulation due to gastrointestinal bleeding, in whom IVC filter placement was indicated for pulmonary embolism prophylaxis. During intra-procedural venography, the patient was found to have a duplicated inferior vena cava (DIVC), a rare vascular anomaly. Bilateral Denali filters were successfully deployed in both IVC limbs to ensure complete thromboembolic protection. This patient remains clinically stable at three-year follow-up with no recurrence of thromboembolism or filter-related complications. This case highlights the placement of bilateral filters in patients with DIVCs that do not converge below the renal veins. Recognizing this was crucial to ensure effective filter placement and avoid incomplete protection against embolism. This case underscores the importance of evaluating venous anomalies prior to interventional procedures involving the IVC. Failure to recognize such variations can lead to technical difficulties, procedural delays, or suboptimal outcomes, including persistent or recurrent thromboembolism. We also review the types of IVC anomalies, their embryology, and some of the potential complications they may cause. Careful procedural planning is essential for optimal patient management