Case Reports in Clinical Practice

Beyond Myths: Understanding the Efficacy and Safety of Traditional Medicinal Practices

Shahin Akhondzadeh — 2025-06-27

The Article Abstract is not available.

Malassezia Pachydermatis Fungemia: A Dog-owner’s Dilemma

Syamasis Bandyopadhyay — 2025-06-27

The present case report describes a unique instance of a 70-year-old male presenting with high-grade fever, severe respiratory distress, and drowsiness. He was diagnosed with Malassezia pachydermatis fungemia, attributed to his proximity to pet dogs. Treatment with empirical broad-spectrum antibiotics and echinocandin antifungal agents resulted in no improvement in the patient’s condition. Upon switching to fluconazole, the patient showed gradual improvement after three days and achieved complete resolution of the infection within two weeks. This report highlights a rare case of bloodstream infection caused by Malassezia pachydermatis and underscores the importance of thorough history-taking in diagnosing rare conditions.

A Rare Case of XXXXY Syndrome with a (4;19) Translocation from Northeast Iran

Arefeh Mazhari — 2025-06-27

49, XXXXY syndrome is a rare chromosomal abnormality, often considered a variant of Klinefelter syndrome. Commonly referred to as Fraccaro syndrome, it is characterized by a unique phenotype and more severe clinical features compared to Klinefelter syndrome, including developmental delays, intellectual disabilities, and a range of congenital anomalies. We present the case of a 13-year-old boy from northeastern Iran with a confirmed karyotype of 49, XXXXY. Cytogenetic analysis revealed a unique feature: a concomitant t(4;19)(p16.2;q13.3) translocation, which has not been reported in previous studies. The patient exhibited key clinical features, including intellectual disability, speech difficulties, developmental delays, short stature, and facial abnormalities such as deep-set eyes and a prominent nasal tip. Additional findings included a small penis, testicular atrophy, recurrent severe urinary tract infections, a history of patent ductus arteriosus (PDA), dental malformations, and hypotonia. The karyotype of 49, XXXXY, along with the observed clinical features, facilitated the diagnosis of Fraccaro syndrome. The identification of the novel t(4;19)(p16.2;q13.3) translocation adds a unique aspect to this case and highlights the need for further research to understand the potential impact of additional chromosomal abnormalities on this rare syndrome.

A Rare Syndromic Report of a Young Patient with Type 2 Diabetes Mellitus: Alstrom Syndrome

Apoorva Suran — 2025-06-27

Alström syndrome is a rare multi-system congenital disorder with varied phenotypic presentations, including obesity, early-onset blindness, hearing loss, and various cardiac and renal manifestations. We discuss a case of a young male who presented with Type 2 Diabetes Mellitus (T2DM) and dyslipidemia, with a history of blindness and hearing loss since childhood. His family history was significant, with three prior sibling deaths. Genetic evaluation confirmed the diagnosis of Alström syndrome. He did not have obesity or any cardiovascular complications. The rest of the systemic examination and blood work were normal. This case is noteworthy as it represents one of the few variants of Alström syndrome without obesity. Early diagnosis and management are crucial for these patients to prevent avoidable complications and improve their quality of life.

Temporoparietooccipital Brain Hydatid Cyst in a FourYear-Old Child: A Rare Case Report

Hamidreza Aghadoost — 2025-06-27

The larval stages of Echinococcus granulosus cause hydatidosis or hydatid disease, which primarily affects children worldwide. It primarily impacts the lungs and liver, but brain hydatidosis is an infrequent condition in the pediatric population. This condition presents with non-specific signs and symptoms. Intracranial hydatid cysts can be diagnosed through brain magnetic resonance imaging (MRI) and histopathological examination of the specimen. In this report, we describe a case of a 4-year-old boy diagnosed with a temporoparietooccipital brain hydatid cyst. The MRI revealed a thin-walled cystic lesion in the left temporoparietooccipital lobe. It showed a significant mass effect and midline shift, with no abnormal wall or solid enhancement and no surrounding edema. Based on these imaging findings, a diagnosis of a brain hydatid cyst was made. The patient underwent surgery, during which the cyst was removed entirely without rupture. Histopathological examination confirmed the diagnosis of a brain hydatid cyst. The patient had a smooth postoperative recovery, began treatment with albendazole, and was discharged in improved health.

Diagnosis of Papillary Intralymphatic Angioendothelioma in the Abdominal Viscera: A Case Report

Abdus Salam Raju — 2025-06-27

Papillary Intralymphatic Angioendothelioma (PILA), or Dąbska Tumour, is an exceedingly rare lymphovascular neoplasm of intermediate malignancy, predominantly affecting cutaneous and soft tissue sites. This case report highlights an unusual presentation of PILA in the mesentery of a 38-year-old male, a site not previously documented. He initially underwent a splenectomy for symptomatic splenic hemangioma. His symptoms recurred two years later, presenting with haemoperitoneum and extensive abdominal involvement, including the colon, small bowel mesentery, and diaphragms. An en-bloc extended right hemicolectomy and partial hepatectomy achieved complete resection. Histopathology revealed hobnail endothelial cells and characteristic papillary structures, confirming PILA. Despite its rare visceral occurrence and diagnostic challenges, the patient showed no recurrence at six months post-surgery. This case underscores the importance of histopathological analysis and awareness of atypical presentations. Wider surgical excision remains the cornerstone of treatment, with vigilant follow-up essential for detecting recurrence and guiding future management protocols for this rare entity.

HAIR-AN Syndrome: A Rare Cause of Hyper Insulinemic State

Sriram Mudraje — 2025-06-27

Insulin resistance is categorized as type A or type B, depending on the etiology. HAIRAN syndrome is a subtype of type A insulin resistance. It is characterized by high insulin resistance, hyperandrogenemia, and hyperinsulinemia. Here, we present a 12-year-old girl who was lean during her first decade of life and came with complaints of gradual-onset weight gain, darkening of her neck and limbs, and roughening of her skin. Menarche had not been attained. She had Grade 4 acanthosis nigricans, thick coarse skin, and hirsutism. Investigations revealed raised blood glucose, elevated testosterone, elevated fasting insulin, and raised HOMA-IR. With biochemical evidence of hyperandrogenemia, insulin resistance, and the presence of acanthosis nigricans, the diagnosis of HAIR-AN syndrome was made.

A Rare Case of Kikuchi-Fujimoto Disease Associated with Sjögren’s Syndrome in a Young Male without Classical Sicca Symptoms

Asrith Reddy Gandu — 2025-06-27

Kikuchi-Fujimoto disease (KFD) is a rare, self-limiting condition characterized by fever and lymphadenopathy. Its association with Sjögren’s syndrome (SS) is exceedingly rare, particularly in the absence of classical sicca symptoms. This case report describes a young male with KFD and SS, highlighting the diagnostic challenges and the importance of a multidisciplinary approach in atypical presentations. A 21-year-old male presented with a 20–25-day history of intermittent high-grade fever, chills, generalized weakness, and severe epigastric pain. Initial investigations suggested enteric fever, but the recurrent symptoms prompted further evaluation. Imaging revealed widespread lymphadenopathy, and histopathological examination confirmed the diagnosis of KFD. Serologic testing revealed SS despite the absence of dry eyes or mouth. The patient was managed symptomatically, and his condition improved with supportive care. This case highlights the importance of considering rare autoimmune etiologies in young patients with persistent febrile illnesses and atypical systemic features. The concurrent diagnosis of KFD and SS without classical sicca symptoms adds to the limited literature on this rare association. A multidisciplinary approach, including histopathological and serological testing, is crucial for accurate diagnosis and management. Further research is needed to better understand the pathogenesis and autoimmune associations of KFD.

The Occurrence of Extensive Subcutaneous Emphysema and Pneumothorax After Endotracheal Tube Removal: A Case Report

Alireza Rahat Dahmardeh — 2025-06-27

Both pneumothorax and subcutaneous emphysema (SCE) after extubation are very rare. Pneumothorax occurs due to lung structure rupture, whereas SCE develops if an air leak persists. In this case report, we describe a patient with stone aspiration who developed severe SCE and pneumothorax after extubation. The patient was a 5-year-old Iranian boy of Baluch ethnicity who had accidentally aspirated a stone. The otolaryngologist attempted removal via bronchoscopy but was unsuccessful and ordered the patient’s transfer to a better-equipped center. We attempted to extubate the patient before his transfer; however, after the endotracheal tube was removed, he developed severe SCE. As a result, we had to re-intubate the patient and place him on mechanical ventilation. Pneumothorax is an underappreciated complication of foreign body aspiration (FBA) that can occur even in the absence of high-pressure ventilation. The timing of pneumothorax development can be unpredictable, and clinicians should maintain a high level of suspicion for quick diagnosis and treatment.

Paradoxical Cerebral Fat Embolism in an Adolescent PLHA: A Convergence of Trauma, ART Induced Hypercoagulability, and Septal Heart Defect

Abhijeet Sharma — 2025-06-27

Fat embolism syndrome (FES) is a life-threatening complication following long bone fractures, primarily affecting the pulmonary circulation. However, cerebral fat embolism (CFE) is a rare yet severe variant that can occur when fat emboli bypass the lungs through a right-to-left cardiac shunt, such as an atrial septal defect (ASD). In individuals with HIV on antiretroviral therapy (ART), persistent endothelial dysfunction and ART-induced hypercoagulability predispose them to an exaggerated thrombo-inflammatory state, amplifying the risk of paradoxical embolism. We describe a 14-year-old male with perinatally acquired HIV on ART who presented after a high-impact road traffic accident. The patient sustained comminuted fractures of the right femoral shaft, tibia, and femoral condyle. Initially neurologically intact (Glasgow Coma Scale [GCS] 15), he experienced rapid neurological deterioration (GCS dropped to 8), alongside respiratory distress and acute respiratory distress syndrome (ARDS)-like symptoms. Urgent evaluation with a 2D echocardiogram revealed an ASD with a right-to-left shunt, strongly supporting the diagnosis of paradoxical cerebral fat embolism. This case illustrates how trauma, combined with HIV-related endothelial dysfunction, ARTinduced hypercoagulability, and a congenital cardiac anomaly, can converge to precipitate severe neurological decline through paradoxical embolism.