Case Reports in Clinical Practice

Hodgkin’s Lymphoma Transformation into Diffuse Large B Cell Lymphoma Presented as a Right Atrial Mass: A Case Report

Akram Sardari — 2024-03-31

Cardiac involvement can occur in lymphoma, with the right heart being predominantly
affected. The prognosis for patients with cardiac involvement is poor. A 28-year-old man,
with a 4-year history of Hodgkin’s lymphoma, presented with progressive shortness
of breath and ascites. Chest X-ray (CXR) and CT scan revealed multiple masses in the
mediastinum. To exclude a pulmonary embolism, the patient underwent CT angiography,
which incidentally revealed a filling defect in the right atrium. Trans-esophageal
echocardiography confirmed the presence of a mass in the right atrium. Surgery was
performed to obtain samples of the mediastinal masses and the right atrium mass.
Pathological results indicated that the nature of the right atrium mass was diffuse large
B-cell lymphoma (DLBCL), suggesting that the Hodgkin’s lymphoma had transformed
into DLBCL. The transformation of Hodgkin’s lymphoma to DLBCL can occur, and cardiac
involvement is not common. Given that the transformation of Hodgkin’s lymphoma into
DLBCL can occur many years after the initial diagnosis, the authors recommend followup of these patients, as the prognosis may be worse than for non-transformed subtypes.

Paraurethral Leiomyoma: A Case Report and Literature Review

Elnaz Rastkar — 2024-03-31

Paraurethral leiomyoma is a rare benign mass. Its rarity and complex anatomical proximities pose challenges in management. The authors report a case of a 35-year-old woman with a paraurethral leiomyoma that was successfully excised without complications. Histopathological examination is the gold standard for diagnosis; however, imaging can also assist in diagnosis before intervention.

A New Mutation of Pompe Disease in a 2-Month-Old Infant

Maryam Taraz — 2024-03-31

Pompe disease, also known as type 2 glycogen storage disease (GSD), is an autosomal recessive disorder. It occurs due to the deficiency of an enzyme, acid maltase, which degrades glycogen in lysosomes. This deficiency leads to glycogen accumulation in several tissues, such as cardiac muscle cells [1]. The disease is classified into infantile and late-onset types. Infantile Pompe disease (IPD) can manifest with feeding problems, hepatomegaly, generalized muscle weakness, hypotonia, macroglossia, and hypertrophic cardiomyopathy [1-3], from the first day to weeks of life [1]. If left untreated, IPD leads to cardiorespiratory failure and death within one year. Late-onset Pompe disease (LOPD), which includes juvenile-, childhood-, and adult-onset disease, is characterized by proximal muscle weakness, respiratory muscle involvement (especially the diaphragm), and arrhythmia. The prognosis of LOPD is less severe than that of IPD [1]. Diagnosis can be made by gene sequencing of the acid alpha-glucosidase (GAA) gene and enzyme assay in dried blood, muscle, skin, and blood cells [5,6]. During pregnancy, diagnosis can also be made by amniocentesis [1]. Treatment with enzyme replacement using recombinant human acid α-glucosidase is effective. As IPD is rapidly progressive, treatment should be initiated as soon as possible. Enzyme therapy can prevent and reverse cardiac and muscle involvement [1]. According to the information the authors have about Pompe disease, in most cases, the initial signs and symptoms are common with other diseases. In these cases, genetic testing significantly helps to definitively diagnose the disease. With the progress made in genetic tests, sometimes new mutations are added to the existing genetic bank. In this case report, the authors introduce a Pompe patient with a new genetic mutation of pathogenic types. This patient had presented with signs of severe hypotonia and cardiomegaly, increased cardiac enzymes, and abnormal liver tests. Despite enzyme therapy immediately after diagnosis, the patient died.

Association Between Myelinated Nerves Fiber Layer and Choroidal Folds: A Case Report

Leila Rezaei — 2024-03-31

This study aims to present an unusual combination of choroidal folds and a myelinated nerve fibre layer. The right eye of a 45-year-old male had been experiencing vision loss for the past six months. An ophthalmic examination revealed a distinct peripapillary white striated patch with feathered borders approximately two disc diameters in size at the nasal pole of the optic disc in both eyes. Choroidal folds involving the macula were also observed in the right eye. This is the first report of an association between a myelinated nerve fiber layer (MNFL) and choroidal folds.

Night View of Eiffel Tower’- Radiological Sign of Chronic Idiopathic Hypertrophic Pachymeningitis: A Case Report

Bhavna Arora — 2024-03-31

Chronic idiopathic hypertrophic pachymeningitis (IHP) is a rare inflammatory entity with unknown etiopathogenesis, resulting in dural thickening and fibrosis. This mimics the illuminated night view of the Eiffel tower on contrast-enhanced MRI. The authors report a characteristic MRI sign of chronic IHP on contrast-enhanced MRI. The authors present a case of a 30-year-old male presenting with a headache for the past 3 years with recent aggravation of symptoms. Laboratory and imaging results were reviewed. Follow-up imaging with ongoing treatment was also reviewed. The etiology could not be determined even after extensive investigations. Contrast-enhanced MRI revealed diffuse enhancing thickening of the pachymeninges along the posterior cerebral hemispheres, falx cerebri, and tentorium cerebelli, giving the typical ‘Night view of the Eiffel tower’ appearance on coronal images. There was cerebral venous sinus thrombosis secondary to IHP. The patient was treated with corticosteroids and anticoagulants. The follow-up scan revealed reduced thickness and enhancement of the meninges.

Traps and Tricks About A 6-Years Old Cutibacterium Endocarditis

Calixte de La Bourdonnaye — 2024-03-31

Endocarditis of cardiac implanted electronic devices is a complex and serious disease. Commensal bacteria of the skin are commonly considered as contamination of blood culture. Herein, the authors report the case of a pacemaker endocarditis with cultures positive for Cutibacterium acnes. These were already found 3 and 6 years ago but not observed during hospitalisation. The PET-scan was of great help in guiding the diagnosis. The management was particularly difficult with 9 leads to extract. A sequential approach in the operating room from endovascular procedure to surgery under cardio-pulmonary bypass was used. A second procedure was necessary to extract a small forgotten foreign body already visible on the preoperative chest X-ray. This experience shows the importance of having a high level of suspicion in case of culture positive for Cutibacterium with intracardiac devices, and of looking for foreign bodies on the preoperative chest X-ray in case of a history of multiple rhythmological procedures.

High-Grade Endometrial Stromal Sarcoma with a Mucoid Grossly Feature: A Case Report of a 69-YearOld Iranian patient

Faraz Mahdizadeh — 2024-03-31

Reporting clinical cases of high-grade endometrial stromal sarcoma tumors is essential for a better understanding of their natural course and for the development of appropriate diagnostic and treatment strategies. To date, only a few cases have been studied in this regard. In the present study, the authors present the case of a 69-year-old Iranian woman diagnosed with high-grade endometrial stromal sarcoma involving the myometrium and ovaries. The diagnosis was confirmed after pathology, which revealed myometrial and vascular involvement. The patient underwent total abdominal hysterectomy, bilateral salpingo-oophorectomy, and adjuvant chemotherapy with chemotherapy regimens.

An Unusual Presentation of Squamous Cell Carcinoma in a Never Smoker: A Case Report

Stacey Boban Mathew — 2024-03-31

Lung Cancer is one of the most common types of cancer found among smokers. However, approximately 10% of lung cancer patients are non-smokers. Non-smokers are frequently seen developing Adenocarcinoma, a type of non-small cell carcinoma with a female predominance. The incidence of Squamous cell carcinoma among non-smokers is very low. Moreover, studies have shown that tetra site metastasis in the case of Squamous cell carcinoma of the lung is almost as rare as 0.6% [1]. The authors report here in this article a case report of a rare and aggressive presentation of Squamous cell carcinoma in a non-smoker. This is a case of a 50-year-old male patient who is a non-smoker, presented with complaints of exertional dyspnoea and cough with expectoration for 3 months which had aggravated since 15 days, associated with hoarseness of voice and diffuse headache since 15 days. There was a history of significant weight loss and loss of appetite for 3 months. CECT thorax revealed a heterogeneously enhancing mass lesion in the anterior segment of the left upper lobe encasing the left pulmonary artery with evidence of liver, adrenal and vertebral metastasis. During the hospital stay, the patient developed complete ptosis of the right eye. MRI brain was done which showed features suggestive of metastasis involving bilateral cerebral and cerebellar hemispheres. USG guided lung biopsy was done and was suggestive of moderately differentiated Squamous cell carcinoma. The patient was planned to be further worked up for IHC markers and PET CT scan to determine the further line of treatment however, unfortunately, the patient succumbed to the disease within 1 week of histopathological diagnosis.

Isaacs Syndrome in A Patient with Positive CASPR2 And LGI1 Antibodies: A Case Report and Literature Review

Rasa Zafari — 2024-03-31

Isaacs Syndrome (IS) is an autoimmune disease characterized by fasciculations, dysautonomia, and hyperactivity of muscle fibers due to hyperexcitability of the peripheral nerve system. Patients with IS often express voltage-gated potassium channels (VGKCs), contactin-associated protein 2 (CASPR2), and leucine-rich gliomainactivated protein (LGI1) antibodies. Slower rates of grouped fasciculation, known as myokymia, are a common presentation in IS patients. Recently, carbamazepine has been considered as the first-line treatment to alleviate the symptoms of IS patients. In this report, the authors present a case of a female patient with ramps and unintended movements in the abdomen and both lower limbs. She was diagnosed with IS after the detection of myokymia in the needle electromyography (EMG) and a positive paraneoplastic panel for CASPR2 and LGI antibodies. The patient is now symptom-free due to the administration of Carbamazepine, Gabapentin, and Baclofen. Additionally, due to her potential risk for solid tumors, she is under regular follow-up.

Choledochal Cyst with Pancreas Divisum – Surgical Insight into A Rare Association

Payal Kaw — 2024-03-31

Congenital pancreaticobiliary anomalies like pancreatic divisum (PD), choledochal cysts (CDC), anomalous pancreaticobiliary ductal union (APBDU) have been reported in 5.7% of patients undergoing magnetic resonance cholangiopancreatography. CDC’s are characterized by abnormal dilatations of the intrahepatic and/or extrahepatic portion of the biliary tree and can be complicated by cystolithiasis, cholangitis, pancreatitis and malignant transformation necessitating surgical managemnet. While CDCs are commonly associated with APBDU, combination of CDC with PD is rare and a potential surgical challenge. We report a case of recurrent cholangitis in a patient with CDC and coincidental classic PD and illustrate how preoperative identification, fastidious dissection technique to safeguard both the pancreatic ducts and simple intraoperative preemptive strategies may decrease consequences of distal stump blowout. PD, pancreatic divisum; CBD, common bile duct; CDC, choledochal cysts; APBDU, anomalous pancreaticobiliary ductal union; MRCP, magnetic resonance cholangiopancreatography; DOS, Duct of Santorini; DOW, Duct of Wirsung; PTBD, percutaneous transhepatic biliary drainage; RYHJ, roux en Y hepaticojejunostomy.

Primary Ovarian Leiomyoma in A Premenopausal Woman: A Case Report

Mehri Sakhdari — 2024-03-31

Primary ovarian leiomyoma is a rare benign ovarian tumor that occurs in women between the ages of 20 and 65. This tumor is usually diagnosed incidentally through pelvic examination or histopathological study after surgery. A definitive preoperative diagnosis is difficult due to the lack of pathognomonic signs or specific imaging features. Therefore, histopathological examination and immunohistochemical analysis are considered necessary. The authors report a case of a 49-year-old woman with ovarian leiomyoma who had a history of heavy vaginal bleeding. She underwent laparotomy with a preoperative diagnosis of uterine fibroids.

GnRH agonist (Gonadotropin-releasing hormone agonist); TSH (Thy- roid stimulating hormone); IHC (Immunohistochemical); SMA (Smooth Muscle Actin)