Indian Journal of Case Reports
type: channel
description: ISSN: p-ISSN - 2454-129X; e-ISSN - 2454 -1303 Discipline: All medical, surgical and dental specialties Starting Year: 2015 Current volume: Volume 10 Issue per year: 12 (monthly) Editor-in-chief: Dr. Amit Agrawal, India Indexing: Index Copernicus, Journal Guide, BASE, Research Bible, Google Scholar E-mail: editor.ijcr@mansapublishers.com
publisher: Mansa STM Publishers
language: en
publication name: Indian Journal of Case Reports
issn: 2454-129X
items: Primary ciliary dyskinesia in an infant with post-infectious bronchiolitis obliterans and failure to thrive: A case report
items: Individualized approach to infertility management with dydrogesterone: insights from case series
items: Aplastic anemia with paroxysmal nocturnal hemoglobinuria clones at diagnosis: Overlap, challenges, and therapeutic dilemmas
items: Laparo-therapy for abdominal tuberculosis: Case report with review of literature
items: A rare cause of drop attacks in a young male
items: Insights on the development and clinical implications of internal jugular vein anomalies – A report on fenestrated internal jugular vein encountered during neck dissection
items: Eyebrow ptosis: Barely mentioned and frequently overlooked
items: Unraveling isolated polycystic pancreatic disease: A clinical rarity and its review in literature
items: Neglected cleft lip Teisser Type 4 deformity: Anesthesiologist concerns
items: Recognizing hypokalemic periodic paralysis in the differentials of acute flaccid paralysis: A case-based approach
items: Cholecystocolonic fistula: A rare complication of calculous cholecystitis with pre-operative diagnosis and surgical management
items: Communication interventriculaire in a 12-year-old boy as a rare congenital heart disease in Tunis: A case report
items: Isotretinoin-induced dermographism and urticaria: A rare cutaneous hypersensitivity reaction
items: Drain catheter-induced urinary bladder fistula: A rare complication following exploratory laparotomy for duodenal ulcer
items: Tailored surgical management of a giant calculus in urethral diverticulum following post-hypospadias repair
items: Hypocalcemic tetany unveiling Vitamin B12 deficiency: A rare manifestation coupled with hyperventilation
items: A hapless case of 5q minus
items: Concomitant acute alopecia and profound bone marrow suppression: An unusual manifestation of azathioprine toxicity
items: Systemic lupus erythematosus with cardiorenal and neuropsychiatric involvement complicated by macrophage activation syndrome in a young female
items: Gallbladder neuroendocrine carcinoma: A rare entity case report with review of literatures
items: Disseminated melioidosis in a young adult with undiagnosed diabetes mellitus: A case report
items: Apparent mineralocorticoid excess syndrome with nephrocalcinosis and renal complications: A case series of two siblings
items: A case report of bilateral ovarian luteinized thecoma with sclerosing peritonitis masquerading as a malignant mass
items: A rare case report on Chiari malformation and syringomyelia-related Charcot arthropathy
items: Symptomatic neuroglycopenia secondary to oral hypoglycemic agents: A case report
items: Candida as an innocent bystander in esophageal ulcers: A case series
items: Aspergillus empyema in a patient with hydropneumothorax: Unveiling the exceptional
items: Xanthogranulomatous cholecystitis: A malignant mimicker
items: Bilateral avascular necrosis of femoral heads in a case of alcohol-related acute on chronic pancreatitis
items: Atypical presentation of neuromyelitis optica spectrum disorder: A diagnostic conundrum

Primary ciliary dyskinesia in an infant with post-infectious bronchiolitis obliterans and failure to thrive: A case report
type: item
description: We report the case of a 9-month-old male infant with recurrent severe viral pneumonia, culminating in bronchiolitis obliterans and chronic respiratory morbidity. The clinical course was marked by multiple pediatric intensive care unit admissions, prolonged oxygen dependency, and recurrent bacterial superinfections. High-resolution computed tomography revealed bronchiectasis and fibrotic changes. Given the chronicity of symptoms, a clinical suspicion of Primary Ciliary Dyskinesia (PCD) was raised. Genetic analysis detected heterozygous variants of uncertain significance in the DNAH1 and LRRC6 genes. This case highlights the diagnostic and management complexities in infants with post-viral chronic lung disease and the importance of early consideration and evaluation for underlying genetic etiology, such as PCD.
subject: Case Report
  topic: section
subject: Bronchiectasis
  topic: keywords
subject: Bronchiolitis obliterans
  topic: keywords
subject: Chronic lung disease
  topic: keywords
subject: Primary ciliary dyskinesia
  topic: keywords
creator: S Shubhranshu Shekhar
creator: Sanjukta De
rights: Copyright (c) 2025 S Shubhranshu Shekhar, Sanjukta De https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-11-21
publication date: 2025-11-21
doi: 10.32677/ijcr.v11i11.7972

Individualized approach to infertility management with dydrogesterone: insights from case series
type: item
description: Infertility is a growing global concern, affecting about one in six individuals of reproductive age. In India, reported prevalence ranges from 3.9% to 16.8%, influenced by age, infections, lifestyle factors, and sociocultural elements. This case series highlights six women, aged 30–34 years, each presenting with different infertility challenges: Tubal factor infertility, male factor infertility, recurrent pregnancy loss, unexplained infertility, and early-stage endometriosis. All cases were managed with a personalized treatment approach that included oral dydrogesterone for luteal phase support (LPS). Dydrogesterone, a selective oral progestin with high bioavailability and endometrial specificity, was used to improve luteal phase adequacy and endometrial receptivity. Each patient received tailored care involving either natural conception support, ovulation induction, intrauterine insemination, or assisted reproductive technology, depending on their clinical profile. Oral dydrogesterone was administered as part of LPS in all six cases. Outcomes included successful conception or sustained pregnancy, demonstrating clinical benefit in each scenario. These real-world clinical cases emphasize the importance of individualized infertility management and illustrate the versatile role of dydrogesterone across varied reproductive conditions. Its incorporation into treatment protocols supported favorable outcomes, reinforcing its value in both spontaneous and assisted conception pathways.
subject: Case Series
  topic: section
subject: Dydrogesterone
  topic: keywords
subject: Endometrial receptivity
  topic: keywords
subject: Individualized treatment
  topic: keywords
subject: Infertility
  topic: keywords
subject: Luteal phase support
  topic: keywords
creator: Pratik Tambe
creator: Maneesha Khalse
creator: Kamlesh Patel
creator: Reshma Parekar
rights: Copyright (c) 2025 Pratik Tambe, Maneesha Khalse, Kamlesh Patel, Reshma Parekar https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-10-28
publication date: 2025-10-28
starting page: 482
ending page: 485
doi: 10.32677/ijcr.v11i10.7914

Aplastic anemia with paroxysmal nocturnal hemoglobinuria clones at diagnosis: Overlap, challenges, and therapeutic dilemmas
type: item
description: Aplastic anemia (AA) is a rare, potentially life-threatening bone marrow failure syndrome characterized by pancytopenia and hypocellular marrow. Clonal evolution, particularly the coexistence of paroxysmal nocturnal hemoglobinuria (PNH) clones, has important diagnostic and prognostic implications. We report the case of a 25-year-old male who presented with recurrent mucosal bleeding, progressive fatigue, exertional dyspnea, weight loss, and fever. Initial evaluation revealed severe pancytopenia with reticulocytopenia and markedly hypocellular bone marrow showing aplasia. Flow cytometry demonstrated PNH clones within red cells (0.03%), granulocytes (8.35%), and monocytes (6.45%). The absence of hemolysis, elevated lactate dehydrogenase, or thrombosis supported AA as the primary disease. The patient was managed with transfusion support, antifibrinolytics, and was listed for hematopoietic stem cell transplantation. The coexistence of PNH clones in AA complicates diagnosis due to overlapping clinical features but also carries prognostic implications. Small PNH clones are increasingly detected with high-sensitivity fluorescent labeled aerolysin-based flow cytometry and may predict a favorable response to immunosuppressive therapy. However, clonal expansion over time can lead to classical PNH with hemolysis and thrombosis, underscoring the need for serial monitoring. This case highlights the importance of routine PNH clone screening in AA patients at diagnosis. Even small, asymptomatic clones can influence prognosis and necessitate long-term surveillance.
subject: Case Report
  topic: section
subject: Aplastic anemia
  topic: keywords
subject: Bone marrow failure
  topic: keywords
subject: Flow cytometry
  topic: keywords
subject: Hematopoietic stem cell transplantation
  topic: keywords
subject: Paroxysmal nocturnal hemoglobinuria
  topic: keywords
subject: Paroxysmal nocturnal hemoglobinuria clones
  topic: keywords
creator: Abulkalam Atiqurrehman Sirajwala
creator: Rajvi Dinesh Raval
creator: Rahenuma Yusuf Patel
creator: Deven Atul Bodar
rights: Copyright (c) 2025 Abulkalam Atiqurrehman Sirajwala, Rajvi Dinesh Raval , Rahenuma Yusuf Patel , Deven Atul Bodar https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-12-01
publication date: 2025-12-01
doi: 10.32677/ijcr.v11i12.7865

Laparo-therapy for abdominal tuberculosis: Case report with review of literature
type: item
description: Abdominal tuberculosis (TB) has many varied clinical presentations. It can vary from small bowel obstruction to peritoneal disease to lymphadenopathy to rare colonic TB to a combination of any or all of the above. Herein, the authors present the case of a 25-year-old female patient who had dense parietal adhesions of mesentery and small bowel loops and a large collection of pus in her lower abdomen. She had already been on anti-microbial therapy for 2.5 months for ascites. Investigations (imaging and laboratory) pointed toward worsening and increasing peritoneal collection. She underwent a successful laparoscopic adhesiolysis, drainage of the collection, along with excision of the wall and toilet. The first line anti-Koch’s medical therapy (which was already on since 2.5 months), as per culture report, was continued for 1 year. Subsequent surveillance imaging reports revealed no recurrence of the collection and, eventually, a complete cure.
subject: Case Report
  topic: section
subject: Abdominal
  topic: keywords
subject: Adhesiolysis
  topic: keywords
subject: Adhesions
  topic: keywords
subject: Bowel loops
  topic: keywords
subject: Collection
  topic: keywords
subject: Drainage
  topic: keywords
subject: First line
  topic: keywords
subject: Surveillance
  topic: keywords
creator: Richa Verma
creator: Abhijit Sharadchandra Joshi
rights: Copyright (c) 2025 Richa Verma, Abhijit Sharadchandra Joshi https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-12-02
publication date: 2025-12-02
doi: 10.32677/ijcr.v11i12.7851

A rare cause of drop attacks in a young male
type: item
subject: Images
  topic: section
creator: Krishnan Balagopal
creator: Jain George
creator: Elizabeth kuruvilla
creator: Ameen Abdul Khader
creator: Jobin John
creator: Nikhil Philip
rights: Copyright (c) 2025 Krishnan Balagopal, Jain George , Elizabeth kuruvilla , Ameen Abdul Khader, Jobin John, Nikhil Philip https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-12-01
publication date: 2025-12-01
doi: 10.32677/ijcr.v11i12.7849

Insights on the development and clinical implications of internal jugular vein anomalies – A report on fenestrated internal jugular vein encountered during neck dissection
type: item
description: In this fascinating clinical report, we explore the case of a 70-year-old male patient diagnosed with T2N1MO squamous cell carcinoma of the lip at the otolaryngology department. Diagnostic imaging before surgery unveiled an intriguing anomaly involving fenestration of the internal jugular vein (IJV), adding a layer of complexity to the surgical plan. With careful preparation, our surgical team skilfully executed a wide local excision of the primary tumor and performed a modified radical neck dissection, complemented by Abbe Estlander flap reconstruction. Identifying this rare IJV anomaly preoperatively enabled meticulous planning, allowing our team to navigate with precision, safeguarding nearby nerves and blood vessels. This exceptional case underscores the importance of recognizing anatomical variations during intricate procedures such as neck dissections. Through this report, we elucidate the pre-operative suspicion, intraoperative identification, and successful management of this rare IJV fenestration encountered during a challenging neck dissection.
subject: Case Report
  topic: section
subject: Case report
  topic: keywords
subject: Fenestration
  topic: keywords
subject: Internal jugular vein
  topic: keywords
subject: Otolaryngology
  topic: keywords
subject: Spinal accessory nerve
  topic: keywords
creator: Pankhuri Mittal
creator: Sarah S Sangma
rights: Copyright (c) 2025 Pankhuri Mittal, Sarah S Sangma https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-11-10
publication date: 2025-11-10
doi: 10.32677/ijcr.v11i11.7845

Eyebrow ptosis: Barely mentioned and frequently overlooked
type: item
subject: Letter to Editor
  topic: section
creator: Somarajan Anandan
creator: Sajeesh S Rajendran
creator: Joesni Joy
creator: Anandhu Suresh
rights: Copyright (c) 2025 Somarajan Anandan, Sajeesh S Rajendran, Joesni Joy, Anandhu Suresh https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-11-20
publication date: 2025-11-20
doi: 10.32677/ijcr.v11i11.7843

Unraveling isolated polycystic pancreatic disease: A clinical rarity and its review in literature
type: item
description: Pancreatic cysts are common, with pseudocysts being the most frequent. Polycystic pancreatic disease usually coexists with cysts in other solid organs, but isolated involvement of the pancreas is rare. This report presents a case of a 40-year-old female who presented with vague abdominal discomfort and pain with no history of pancreatitis or trauma. Radiological imaging showed multiple variable-sized thin-walled pancreatic cysts with no cystic lesions in the liver, spleen, kidneys, or brain. The patient was diagnosed with isolated polycystic disease of the pancreas and is on conservative management with regular follow-up. In summary, idiopathic isolated macro-polycystic disease of the pancreas is a rare condition that is usually asymptomatic with a benign outcome and is primarily diagnosed through imaging techniques, with magnetic resonance imaging being the most accurate. Further data and experience are needed to develop standardized treatment protocols in case of significant symptoms.
subject: Case Report
  topic: section
subject: Abdominal pain
  topic: keywords
subject: Pancreatic cysts
  topic: keywords
subject: Polycystic pancreatic disease
  topic: keywords
creator: Namit Gupta
creator: Ashok Jhajharia
creator: Vidhyadhar Nitar
creator: Anirudh Gupta
creator: Rupesh Pokharna
creator: Prachis Ashdhir
rights: Copyright (c) 2025 Namit Gupta, Ashok Jhajharia, Vidhyadhar Singh Nitar, Anirudh Gupta, Rupesh Kumar Pokharna, Prachis Ashdhir https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-12-01
publication date: 2025-12-01
doi: 10.32677/ijcr.v11i12.7835

Neglected cleft lip Teisser Type 4 deformity: Anesthesiologist concerns
type: item
description: Since craniofacial anomalies are one of the most common causes of predicted difficult airway, they present a problem to anesthesiologists. To prevent serious issues, it is important to anticipate and prepare for difficult airway management beforehand. Developing a safe anesthetic plan requires an understanding of the development, features, and unique anesthetic problems of the more prevalent anomalies. The successful airway care of a Tessier No. 4 anomalous infant with cleft lip, cleft palate, and left orofacial cleft is described.
subject: Case Report
  topic: section
subject: Difficult airway
  topic: keywords
subject: Orofacial cleft
  topic: keywords
subject: Tessier Type 4 cleft lip
  topic: keywords
creator: Lally Komal
creator: Kaur Haramritpal
creator: Kaur Amanpreet
creator: Rana Rubina
creator: Kaur Rajvir
rights: Copyright (c) 2025 Lally Komal, Kaur Haramritpal, Kaur Amanpreet, Rana Rubina, Kaur Rajvir https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-11-24
publication date: 2025-11-24
doi: 10.32677/ijcr.v11i11.7833

Recognizing hypokalemic periodic paralysis in the differentials of acute flaccid paralysis: A case-based approach
type: item
description: Hypokalemic periodic paralysis (HypoPP) is a rare but important cause of acute flaccid paralysis that may be easily overlooked during initial evaluation. Timely recognition is essential, as management differs significantly from other neurological or metabolic causes of weakness. We report the case of a 51-year-old male who presented with an acute onset of flaccid quadriparesis. Despite initial treatment, the patient exhibited persistently low serum potassium levels, which did not respond adequately to standard potassium replacement. This unusual biochemical profile, combined with the clinical picture, led to a focused diagnostic approach that confirmed HypoPP. This case highlights the importance of including HypoPP in the differential diagnosis of acute flaccid paralysis, especially in patients with recurrent or persistent hypokalemia. Early identification and appropriate management can significantly alter patient outcomes and are essential to establish appropriate long-term management strategies to prevent recurrent episodes.
subject: Case Report
  topic: section
subject: Acute flaccid paralysis
  topic: keywords
subject: Case report
  topic: keywords
subject: Channelopathy
  topic: keywords
subject: Hypokalemia
  topic: keywords
subject: Hypokalemic periodic paralysis
  topic: keywords
creator: Pravesha Chandrasekaran
creator: Satish J Wagh
rights: Copyright (c) 2025 Pravesha Chandrasekaran, Satish J Wagh https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-11-01
publication date: 2025-11-01
doi: 10.32677/ijcr.v11i11.7801

Cholecystocolonic fistula: A rare complication of calculous cholecystitis with pre-operative diagnosis and surgical management
type: item
description: Cholecystocolonic fistula (CCF) is a rare complication of chronic gallstone disease, often diagnosed intraoperatively due to non-specific clinical features and limited radiological sensitivity. We report the case of a 76-year-old female with dyspepsia, low-grade fever, and vomiting, in whom contrast-enhanced computed tomography demonstrated a fistulous tract between the gallbladder and hepatic flexure. Laparotomy with cholecystectomy and segmental colectomy was performed, and histopathology confirmed the diagnosis. The postoperative course was uneventful. This case underscores the diagnostic challenges of CCF, the need for high clinical suspicion, and the importance of timely surgical intervention to prevent complications such as perforation and sepsis.
subject: Case Report
  topic: section
subject: Biliary disease
  topic: keywords
subject: Cholecystectomy
  topic: keywords
subject: Cholecystocolonic fistula
  topic: keywords
subject: Cholecystoenteric fistula
  topic: keywords
subject: Gallstone disease
  topic: keywords
creator: T A Chandralathan
creator: Ravisankar Palaniappan
creator: Padma Priya Camalarajan
creator: S Rajmohan
creator: Udaya Kumar Kuppan
rights: Copyright (c) 2025 T A Chandralathan, Ravisankar Palaniappan, Padma Priya Camalarajan, S Rajmohan, Udaya Kumar Kuppan https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-11-03
publication date: 2025-11-03
doi: 10.32677/ijcr.v11i11.7828

Communication interventriculaire in a 12-year-old boy as a rare congenital heart disease in Tunis: A case report
type: item
description: Communication interventriculaire, or ventricular septal defect (VSD), is the most common congenital heart malformation in children, accounting for nearly 37% of cases worldwide. While small defects may remain asymptomatic, larger perimembranous defects are frequently associated with significant hemodynamic compromise and progressive valvular dysfunction. We describe the case of a 12-year-old boy with a large perimembranous VSD who presented with recurrent dull, intermittent chest pain, dyspnea, and easy fatigue, symptoms not typically emphasized in pediatric VSD cases. Echocardiography revealed a 5 mm left-to-right shunt (Vmax 4.6 m/s), severe subaortic stenosis due to a subaortic membrane (aortic Vmax 5.4 m/s), and grade II aortic insufficiency. Laboratory tests demonstrated markedly elevated C-reactive protein levels (36.1), indicating systemic inflammation and possible infectious complications. Management included infection control, daily Tansopril therapy, and surgical intervention, with plans for long-term follow-up using echocardiography and laboratory monitoring. When compared with published pediatric cases from Argentina and India, which primarily reported progressive aortic regurgitation and left ventricular outflow tract obstruction, respectively, our case is distinctive due to its initial dominant presentation of chest pain and its strong inflammatory profile. This underscores the heterogeneity of clinical manifestations in VSD and highlights the need for individualized evaluation and treatment strategies to prevent progression and long-term morbidity.
subject: Case Report
  topic: section
subject: Aortic insufficiency
  topic: keywords
subject: Communication interventriculaire
  topic: keywords
subject: Congenital
  topic: keywords
subject: Epidemiology
  topic: keywords
subject: Pediatric
  topic: keywords
subject: Tunis
  topic: keywords
subject: Ventricular septal defect
  topic: keywords
creator: Aulia Rahman Puteri
creator: Raouf Denguir
creator: Galih Santoso Putra
rights: Copyright (c) 2025 Aulia Rahman Puteri, Raouf Denguir, Galih Santoso Putra https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-11-19
publication date: 2025-11-19
doi: 10.32677/ijcr.v11i11.7827

Isotretinoin-induced dermographism and urticaria: A rare cutaneous hypersensitivity reaction
type: item
description: Isotretinoin is a systemic retinoid extensively used for intense pimples, with not unusual, place-damaging results like mucocutaneous dryness being well-documented. This record highlights an extraordinary case of isotretinoin-triggered dermographism and urticaria. A 27-year-old girl on 20 mg/day of oral isotretinoin for intense pimples developed chronic pruritus, linear erythematous streaks, and urticarial plaques on her lower limbs after 4 weeks. With no records of allergies, a likely damaging drug response became recognized through the usage of the Naranjo evaluation tool. Isotretinoin was discontinued, and the affected person was treated with oral bilastine and tapered methylprednisolone, attaining complete healing within 10 days. This case underscores the significance of spotting odd cutaneous reactions to isotretinoin to ensure the protection of affected person and beautify pharmacovigilance.
subject: Case Report
  topic: section
subject: Acne therapy
  topic: keywords
subject: Cutaneous drug reaction
  topic: keywords
subject: Isotretinoin
  topic: keywords
subject: Linear dermatitis
  topic: keywords
subject: Urticaria
  topic: keywords
creator: Sekhar Sharma
creator: Mohan V
creator: Rajendra Dhakal
creator: Basant Kumar Rai
rights: Copyright (c) 2025 Sekhar Sharma, Mohan V, Rajendra Dhakal, Basant Kumar Rai https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-10-28
publication date: 2025-10-28
starting page: 540
ending page: 542
doi: 10.32677/ijcr.v11i10.7825

Drain catheter-induced urinary bladder fistula: A rare complication following exploratory laparotomy for duodenal ulcer
type: item
description: Pelvic drains are commonly used in abdominal surgeries to prevent fluid accumulation, identify post-operative complications, and allow early detection of anastomotic leakage. We report a rare case of a 35-year-old male who developed a urinary bladder fistula a few days after exploratory laparotomy for a perforated duodenal ulcer. The patient initially presented with generalized abdominal pain, fever, and peritonitis. Imaging confirmed pneumoperitoneum, and an emergency laparotomy revealed a perforated duodenal ulcer. A right subhepatic drain and a pelvic drain were placed. On post-operative day 5, the pelvic drain output increased and resembled urine. Further imaging revealed that the drain tip had entered the bladder, causing a fistula. Conservative management with urethral catheterization and drain repositioning was successful. This case highlights the importance of vigilance during drain placement, awareness of risk factors such as prolonged drain retention, and early recognition of atypical drain output. It also underscores the role of conservative management in selected cases.
subject: Case Report
  topic: section
subject: Fistula
  topic: keywords
subject: Pelvic drains
  topic: keywords
subject: Perforated duodenal ulcer
  topic: keywords
subject: Peritonitis
  topic: keywords
subject: Post-operative complications
  topic: keywords
subject: Surgical drainage
  topic: keywords
subject: Urinary bladder injury
  topic: keywords
creator: Omer Hamza Ali Ahmed
creator: Reem Mubark Abdelrheem Subahi
creator: Fatin Abdelmoneim Omer Alameen
creator: Abdelazim Hussein Khalafalla
creator: Mohamed Obaid Mohamed Obaid
rights: Copyright (c) 2025 Omer Hamza Ali Ahmed, Reem Mubark Abdelrheem Subahi, Fatin Abdelmoneim Omer Alameen, Abdelazim Hussein Khalafalla, Mohamed Obaid Mohamed Obaid https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-11-08
publication date: 2025-11-08
doi: 10.32677/ijcr.v11i11.7822

Tailored surgical management of a giant calculus in urethral diverticulum following post-hypospadias repair
type: item
description: Giant urethral calculi are rare, particularly within diverticula arising as late complications of hypospadias repair. We report a 30-year-old male with prior childhood hypospadias surgery who presented with a 2-year history of dysuria and lower urinary tract symptoms. Examination revealed a hard mass along the penile urethra, and imaging confirmed a 6×2 cm calculus within an anterior urethral diverticulum. After managing an associated urinary tract infection, the patient underwent Stage I Johansson’s urethroplasty with longitudinal incision, stone extraction, and diverticulectomy. Recovery was uneventful, with Stage II urethroplasty planned. This case highlights the importance of a tailored surgical approach addressing stone burden and anatomical anomalies, which is crucial for successful long-term outcomes.
subject: Case Report
  topic: section
subject: Hypospadias repair
  topic: keywords
subject: Urethral calculus
  topic: keywords
subject: Urethral diverticulum
  topic: keywords
subject: Urethroplasty
  topic: keywords
creator: Abhishek Saini
creator: Hemant Kumar Goel
creator: Umesh Sharma
creator: Anoop Yadav
creator: Dhirendra Singh
rights: Copyright (c) 2025 Abhishek Saini, Hemant Kumar Goel, Umesh Sharma, Anoop Yadav, Dhirendra Singh https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-10-29
publication date: 2025-10-29
doi: 10.32677/ijcr.v11i11.7816

Hypocalcemic tetany unveiling Vitamin B12 deficiency: A rare manifestation coupled with hyperventilation
type: item
description: Hypocalcemic tetany is a clinical condition characterized by involuntary muscle contractions and spasms due to low levels of ionized calcium in the blood, commonly associated with conditions such as hypoparathyroidism, Vitamin D deficiency, and chronic kidney disease. We report the case of a 16-year-old vegetarian girl who presented with recurrent episodes of tetany, muscle cramps, and fainting. Initial management with calcium supplementation and anxiolytics provided partial relief. But as tetany was recurrent, respiratory alkalosis was found to be the contributing factor. Anxiety-induced hyperventilation leads to respiratory alkalosis. Despite correction of alkalosis, tetany persisted, and the patient developed gait abnormality. Anxiety and gait abnormality were both found to be due to Vitamin B12 deficiency. Parenteral Vitamin B12 supplementation resulted in complete recovery from tetany, gait disturbance, and anxiety. Hence, this is a rare manifestation of Vitamin B12 deficiency, pertaining to anxiety-induced hyperventilation, leading to respiratory alkalosis and presenting clinically as recurrent tetany. Treatment only by parenteral calcium was not enough, and unmasking the hidden etiology of Vitamin B12 deficiency was key to recovery.
subject: Case Report
  topic: section
subject: Anxiety
  topic: keywords
subject: Hyperventilation
  topic: keywords
subject: Hypocalcemic tetany
  topic: keywords
subject: Vitamin B12 deficiency
  topic: keywords
creator: Ajeet Kumar Chaurasia
creator: Poonam Gupta
rights: Copyright (c) 2025 Ajeet Kumar Chaurasia, Poonam Gupta https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-10-31
publication date: 2025-10-31
doi: 10.32677/ijcr.v11i11.7819

A hapless case of 5q minus
type: item
description: The 5q-syndrome is a myelodysplastic syndrome (MDS) characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal/elevated platelet counts, normal/reduced neutrophil counts, erythroid hypoplasia, and hypolobated micro-megakaryocytes in the bone marrow. A thalidomide analogue, lenalidomide, induces transfusion independence and cytogenetic remission in a substantial number of patients. This case is presented for its rarity and therapeutic challenge. A postmenopausal female patient presented to the Outpatient Department with a history of progressive drop in hemoglobin and white blood cells for the last 6 months, for which she was on oral hematinics. The peripheral smear and bone marrow showed classical findings of pseudo-Pelger-Huet neutrophils and hypolobated megakaryocytes with no excess of blasts, respectively. Molecular studies were positive for 5q deletion (46, XX, del[5][q33q35]). Lenalidomide therapy was started, a year after starting treatment, the patient progressed to MDS with increased blasts-2 and subsequently to acute myeloid leukemia within 2 months. The karyotyping done at this time suggested evolution of a complex karyotype and presence of an additional translocation 46, XX, del (3) (q12), t (5;7) (q13; q22). The patient succumbed to multiple infections approximately 1.5 years after diagnosis.
subject: Case Report
  topic: section
subject: 5q
  topic: keywords
subject: Bicytopenia
  topic: keywords
subject: Karyotyping
  topic: keywords
subject: Lenalidomide
  topic: keywords
subject: Monosomy 5
  topic: keywords
subject: Myelodysplasia
  topic: keywords
creator: Preeti Singh
creator: Vazifdar Archana
creator: Shah Samir
rights: Copyright (c) 2025 Preeti Singh, Vazifdar Archana, Shah Samir https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-10-31
publication date: 2025-10-31
doi: 10.32677/ijcr.v11i11.7813

Concomitant acute alopecia and profound bone marrow suppression: An unusual manifestation of azathioprine toxicity
type: item
description: Azathioprine is a cytotoxic drug used frequently as a steroid-sparing agent in multiple dermatological diseases. Myelosuppression is known to occur with azathioprine, but severe pancytopenia and hair loss are uncommon. Hair loss usually occurs with long-term use, but sudden onset and rapidly progressive alopecia are extremely rare. In this report, we present an unusual case of a patient with chronic spontaneous urticaria, accompanied by elevated serum immunoglobulin E levels, who developed sudden-onset, rapidly progressing alopecia areata concurrent with azathioprine-induced bone marrow suppression. The patient’s condition improved following discontinuation of azathioprine, with concurrent resolution of leukopenia and gradual hair regrowth, suggesting a temporal and possibly causative relationship between the drug and both the hematologic and dermatologic manifestations. This case emphasizes the unpredictable nature of immunomodulatory therapy and highlights a paradox wherein a drug intended to suppress autoimmune activity potentially triggers a separate autoimmune condition. It also emphasizes the importance of vigilant monitoring for both common and rare adverse effects during azathioprine therapy.
subject: Case Report
  topic: section
subject: 6-mercaptopurine
  topic: keywords
subject: Azathioprine
  topic: keywords
subject: Immunoglobulin E
  topic: keywords
subject: Myelosuppression
  topic: keywords
subject: Thiopurine methyl transferase
  topic: keywords
creator: Joyjit Das
creator: Prakash Narayan Gupta
creator: Rupayan Bhattacharya
rights: Copyright (c) 2025 Joyjit Das, Prakash Narayan Gupta , Rupayan Bhattacharya https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-11-03
publication date: 2025-11-03
doi: 10.32677/ijcr.v11i11.7810

Systemic lupus erythematosus with cardiorenal and neuropsychiatric involvement complicated by macrophage activation syndrome in a young female
type: item
description: Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder with highly variable presentations. Since no definitive diagnostic criteria exist, clinicians often rely on classification criteria to establish the diagnosis. A 22-year-old female presented to our hospital with a 2–3 month history of fever and weakness, along with breathlessness for 15 days. She had previously sought treatment at multiple peripheral centers, where only symptomatic therapy was provided, but no investigations were done till a few initial visits. At the time of presentation, clinical examination and investigations revealed neuropsychiatric symptoms, pancytopenia, pericardial effusion, renal involvement, and positive SLE serology. During hospitalization, she developed macrophage activation syndrome and multiorgan dysfunction. She was treated aggressively with high-dose corticosteroids, plasmapheresis, cyclophosphamide, dialysis, and mechanical ventilation. However, her condition rapidly deteriorated and progressed to a fatal outcome, which probably could have been prevented if the case had been investigated, diagnosed, and referred early. SLE flare is a highly fatal condition that can present abruptly. In view of this, prompt diagnosis and treatment of SLE is mandatory. Recommending specific diagnostic criteria and increasing awareness amongst the primary care physicians so that they also have a high index of suspicion for the condition in the presence of constitutional symptoms can reduce chances of missed diagnosis and reduce morbidity and mortality.
subject: Case Report
  topic: section
subject: Immunosuppressive therapy
  topic: keywords
subject: Lupus flare
  topic: keywords
subject: Macrophage activation syndrome
  topic: keywords
subject: Multisystem involvement
  topic: keywords
subject: Systemic lupus erythematosus
  topic: keywords
creator: Sona Mitra
creator: Arti Muley
creator: Hardik Gajera
creator: Priyal Patel
creator: Vrushti Doshiyad
creator: Hasmukh Chaudhary
creator: Ritesh Patel
rights: Copyright (c) 2025 Sona Mitra, Arti Muley, Hardik Gajera, Priyal Patel, Vrushti Doshiyad, Hasmukh Chaudhary, Ritesh Patel https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-11-01
publication date: 2025-11-01
doi: 10.32677/ijcr.v11i11.7809

Gallbladder neuroendocrine carcinoma: A rare entity case report with review of literatures
type: item
description: Neuroendocrine neoplasm (NEN) of the gallbladder (GB) is an extremely rare malignancy, accounting for only 0.2% of all NENs. GB-neuroendocrine carcinomas (NEC) are difficult to differentiate from adenocarcinoma on routine imaging. These tumors do not present with specific symptoms. Histopathological examination is the gold standard for the diagnosis of GB-NEC. They have worse outcomes than GB-adenocarcinoma and have disseminated metastases at the time of diagnosis. We present the case of a 65-year-old woman who presented with a GB mass and abdominal pain. Histopathological and immunohistochemical findings revealed GB-NEC.
subject: Case Report
  topic: section
subject: Carcinoma
  topic: keywords
subject: Gallbladder
  topic: keywords
subject: Neuroendocrine neoplasm
  topic: keywords
subject: Rare malignancy
  topic: keywords
creator: Barasha Sharma
creator: Harani Brahma
creator: Muktanjalee Deka
creator: Jagannath Dev Sharma
rights: Copyright (c) 2025 Barasha Sharma, Harani Brahma, Muktanjalee Deka, Jagannath Dev Sharma https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-11-01
publication date: 2025-11-01
doi: 10.32677/ijcr.v11i11.7807

Disseminated melioidosis in a young adult with undiagnosed diabetes mellitus: A case report
type: item
description: Melioidosis, caused by Burkholderia pseudomallei, is a potentially fatal infection endemic to Southeast Asia and Northern Australia. We present the case of disseminated melioidosis in a 27-year-old fisherman from South India with previously undiagnosed diabetes mellitus. He presented with prolonged low-grade fever, encephalopathy, and hyperosmolar hyperglycemic state. Blood cultures identified B. pseudomallei, and imaging revealed multiple hepatic abscesses, pulmonary nodules, splenic infarction, and renal involvement. Intensive care management included meropenem therapy, insulin infusion, and mechanical ventilation. The patient experienced secondary infections and complications such as pressure ulcers and cavitating lung lesions. Following a prolonged intensive care unit stay and antibiotic therapy, he recovered and was discharged in stable condition. This case emphasizes the need for heightened clinical suspicion of melioidosis in febrile patients from endemic regions, even in the absence of overt risk factors. Early microbiological diagnosis and targeted treatment are key to reducing morbidity and mortality in disseminated melioidosis.
subject: Case Report
  topic: section
subject: Diabetes mellitus
  topic: keywords
subject: Disseminated disease
  topic: keywords
subject: Melioidosis
  topic: keywords
subject: Young patient
  topic: keywords
creator: Annika Doddapaneni
creator: Anusha Cherian
rights: Copyright (c) 2025 Annika Doddapaneni, Anusha Cherian https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-10-29
publication date: 2025-10-29
doi: 10.32677/ijcr.v11i11.7806

Apparent mineralocorticoid excess syndrome with nephrocalcinosis and renal complications: A case series of two siblings
type: item
description: Apparent mineralocorticoid excess (AME) syndrome is a rare autosomal recessive cause of secondary hypertension, especially in children and young adults. Its heterogeneous presentation often delays diagnosis. We report a case series of two siblings, born of a 2nd-degree consanguineous marriage, both with AME syndrome complicated by nephrocalcinosis. The elder sibling developed renal osteodystrophy, progressive renal dysfunction, and cardiovascular complications, whereas the younger sibling remained stable with early diagnosis and therapy. This case series highlights the prognostic impact of early diagnosis and treatment, as well as diagnostic challenges in differentiating AME from Liddle syndrome. Awareness is crucial in consanguineous populations where genetic risk is higher.
subject: Case Series
  topic: section
subject: Apparent mineralocorticoid excess syndrome
  topic: keywords
subject: Consanguinity
  topic: keywords
subject: Hypertension
  topic: keywords
subject: Hypokalemia
  topic: keywords
subject: Liddle syndrome
  topic: keywords
subject: Nephrocalcinosis
  topic: keywords
creator: P Aravindhmozhi
creator: Sheik Sulthan Alavudeen
creator: Jayalakshmi Seshadri
creator: R Rajakumar
creator: Charankumar Swamikkannu
creator: Seenivasan Mookaiah
rights: Copyright (c) 2025 P Aravindhmozhi, Sheik Sulthan Alavudeen , Jayalakshmi Seshadri , R Rajakumar, Charankumar Swamikkannu, Seenivasan Mookaiah https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-10-28
publication date: 2025-10-28
starting page: 486
ending page: 489
doi: 10.32677/ijcr.v11i10.7804

A case report of bilateral ovarian luteinized thecoma with sclerosing peritonitis masquerading as a malignant mass
type: item
description: Luteinized thecoma with sclerosing peritonitis (LTSP) is a very uncommon syndrome, characterized by the presence of single or bilateral ovarian thecomas and peritoneal fibrotic lesions. The disease occurs in young women, and it can lead to peritoneal fibrosis and bowel obstruction. We present the case of an ovarian mass in a 20-year-old woman. Radiologically, the patient had bilateral large, well-defined, heterogeneously enhancing solid mass lesions in the bilateral adnexa. The lesion extends into the lower abdomen, abutting the compressed fat planes. Her serum carcinoembryonic antigen (1.26 ng/mL) was within normal limits, but the cancer antigen 125 (CA125) (882/mL) level was high. Total abdominal hysterectomy with bilateral adnexal mass, along with part of the omentum, was removed. Histopathological diagnosis was LTSP and was confirmed by immunohistochemistry. Postoperatively, the patient was managed conservatively and was kept in follow-up.
subject: Case Report
  topic: section
subject: Ovarian tumor
  topic: keywords
subject: Peritoneum
  topic: keywords
subject: Surgery
  topic: keywords
subject: Thecoma
  topic: keywords
creator: Madhusmita Choudhury
creator: Barasha S Bharadwaj
creator: Muktanjalee Deka
creator: Jagannath D Sharma
creator: Ganesh Das
creator: Sarvagya Mishra
creator: Upasana Kalita
rights: Copyright (c) 2025 Madhusmita Choudhury, Barasha S Bharadwaj, Muktanjalee Deka, Jagannath D Sharma, Ganesh Das, Sarvagya Mishra, Upasana Kalita https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-10-28
publication date: 2025-10-28
starting page: 527
ending page: 530
doi: 10.32677/ijcr.v11i10.7794

A rare case report on Chiari malformation and syringomyelia-related Charcot arthropathy
type: item
description: Charcot arthropathy is a progressive and often underrecognized joint condition typically resulting from impaired sensory innervation. Although commonly associated with diabetes, it may also occur in the context of less frequent neurological disorders. This report discusses the case of a 27-year-old woman who presented with chronic swelling and restricted movement of the right elbow, without a history of trauma or systemic symptoms. Imaging studies eventually revealed syringomyelia and Chiari malformation as the underlying causes. This case underscores the need for clinicians to consider neuropathic arthropathy in the differential diagnosis of unexplained joint dysfunction, particularly in the upper limbs, and to use advanced imaging techniques like magnetic resonance imaging for timely identification and intervention before irreversible joint damage occurs.
subject: Case Report
  topic: section
subject: Charcot arthropathy
  topic: keywords
subject: Chiari malformation
  topic: keywords
subject: Elbow joint
  topic: keywords
subject: Syringomyelia
  topic: keywords
creator: Shasthara Paneyala
creator: Soofia Naaz
creator: Pallavita Chirravuri
creator: C V Thejesh
rights: Copyright (c) 2025 Soofia Naaz, Shasthara Paneyala , Pallavita Chirravuri, C V Thejesh https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-10-28
publication date: 2025-10-28
starting page: 524
ending page: 526
doi: 10.32677/ijcr.v11i10.7793

Symptomatic neuroglycopenia secondary to oral hypoglycemic agents: A case report
type: item
description: We present the case of a 55-year-old man with Type 2 diabetes mellitus who developed symptomatic neuroglycopenia due to oral hypoglycemic agents (OHAs). He presented with confusion and disoriented speech after taking his usual morning dose of medication following a period of poor adherence. The laboratory evaluations confirmed hypoglycemia and ruled out other potential causes, including liver disease. He was successfully managed with intravenous dextrose (10%; 75 mL/h), and then supportive care was initiated after discontinuing OHA’s. This case highlights the increased risk in diabetic patients on sulfonylurea-based regimens, especially with renal dysfunction and poor adherence.
subject: Case Report
  topic: section
subject: Adverse drug reaction
  topic: keywords
subject: Diabetes mellitus
  topic: keywords
subject: Neuroglycopenic hypoglycemia
  topic: keywords
subject: Oral hypoglycemic agents
  topic: keywords
creator: Ghanta Vijaya Kumar
creator: Tandra Lakshmi Srinidhi
creator: Ankam Chandana
creator: Kudaravalli Hemanvi
creator: Alaparthi Bhavana
creator: Bathina Leela Jyothi
creator: Kaja Chandrika Devi
creator: Viswa Srujani Kanagala
rights: Copyright (c) 2025 Ghanta Vijaya Kumar, Tandra Lakshmi Srinidhi, Ankam Chandana, Kudaravalli Hemanvi, Alaparthi Bhavana, Bathina Leela Jyothi, Kaja Chandrika Devi, Viswa Srujani Kanagala https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-10-28
publication date: 2025-10-28
starting page: 521
ending page: 523
doi: 10.32677/ijcr.v11i10.7787

Candida as an innocent bystander in esophageal ulcers: A case series
type: item
description: Esophageal ulcers are a common endoscopic finding in patients with dysphagia with a broad range of etiologies, including gastroesophageal reflux disease, drug-induced injury, infections, malignancy, corrosive ingestion, etc. Candida albicans is the most frequently implicated organism in infectious esophagitis. However, its mere presence on histopathology does not confirm causation, particularly in immunocompetent patients, where it may represent secondary colonization. We report a case series of three patients presenting with esophageal ulcers and histological evidence of Candida. In the first two cases, esophageal ulcers resulted from pill esophagitis secondary to doxycycline and non-steroidal anti-inflammatory drugs, while the third case was attributed to herpes simplex esophagitis. Although Candida/yeast was identified in esophageal ulcer biopsies of all three patients, the first two cases improved with rabeprazole and sucralfate alone. The third case did not respond to fluconazole; further evaluation confirmed herpes simplex esophagitis and improved following antiviral treatment. This case series underscores that Candida is not necessarily the primary cause of esophageal ulcers but may instead represent secondary colonization.
subject: Case Series
  topic: section
subject: Candida
  topic: keywords
subject: Colonization
  topic: keywords
subject: Herpes simplex virus
  topic: keywords
subject: Esophageal ulcer
  topic: keywords
subject: Pill esophagitis
  topic: keywords
creator: Srinu Deshidi
creator: Gaurav Mahajan
creator: Amrutha Guguloth
creator: Viswanath Kamisetty
creator: Spoorthi Kolla
creator: Venu Gongati
creator: Harshavardhan Reddy Gongala
creator: Bhaskar Kante
creator: Sreekanth Appasani
rights: Copyright (c) 2025 Srinu Deshidi, Gaurav Mahajan, Amrutha Guguloth, Viswanath Kamisetty, Spoorthi Kolla, Venu Gongati, Harshavardhan Reddy Gongala, Bhaskar Kante, Sreekanth Appasani https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-10-28
publication date: 2025-10-28
starting page: 477
ending page: 481
doi: 10.32677/ijcr.v11i10.7786

Aspergillus empyema in a patient with hydropneumothorax: Unveiling the exceptional
type: item
description: Pleural aspergillosis is an unusual form of invasive aspergillosis. A 67-year-old female presented with breathlessness, and a catheter inserted on the left side of the chest for draining pleural fluid. The drained pleural fluid was indicative of empyema and showed growth of Aspergillus flavus. Treatment with isavuconazole improved her condition. She had history of pleural tuberculosis and developing hydro-pneumothorax in recent past.She was on immunosuppresant for autoimmune disorder. This case highlights risk factors associated with invasive aspergillosis and emphasizes that such an exceptional condition should be considered a differential diagnosis, especially amidst the above medical background. Equally important is to note that newer and better drugs pave the way for efficient patient management.
subject: Case Report
  topic: section
subject: Aspergillosis
  topic: keywords
subject: Empyema
  topic: keywords
subject: Invasive
  topic: keywords
subject: Isavuconazole
  topic: keywords
subject: Pleural fluid
  topic: keywords
creator: Sunayana Mukesh Jangla
creator: Susan Cherian
rights: Copyright (c) 2025 Sunayana Mukesh Jangla, Susan Cherian https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-10-28
publication date: 2025-10-28
starting page: 517
ending page: 520
doi: 10.32677/ijcr.v11i10.7781

Xanthogranulomatous cholecystitis: A malignant mimicker
type: item
description: Xanthogranulomatous cholecystitis (XGC) is a rare, chronic inflammatory disease of the gallbladder (GB) that often mimics GB carcinoma clinically, radiologically, and intraoperatively. Its accurate diagnosis is critical to avoid unnecessary extensive surgery. A 71-year-old female presented with diffuse abdominal pain and intermittent fever for 2 months. Imaging (magnetic resonance cholangiopancreatography and contrast-enhanced computed tomography) revealed irregular thickening of the GB wall with a rent in the fundus and pericholecystic collection, suggesting a neoplastic etiology. A diagnostic laparoscopy with radical cholecystectomy was performed due to high suspicion of carcinoma. Gross examination showed a thickened, ragged GB wall infiltrating into the liver. Histopathology revealed mucosal denudation, subepithelial fibrosis, foamy histiocytes, and chronic inflammatory infiltrates, confirming the diagnosis of XGC. No malignancy was identified. The patient recovered uneventfully and remained asymptomatic at 9-month follow-up. XGC is a benign but aggressive inflammatory condition that can closely resemble GB cancer. Histopathological examination remains the gold standard for diagnosis. Awareness of this entity is essential to guide appropriate surgical management and avoid overtreatment.
subject: Case Report
  topic: section
subject: Carcinoma
  topic: keywords
subject: Cholecystitis
  topic: keywords
subject: Gallbladder
  topic: keywords
subject: Xanthogranulomatous
  topic: keywords
creator: Vandana Gangadharan
creator: Bhagyalakshmi Atla
creator: Sandya Rani Guruvelli
creator: Saritha Rani Ravada
rights: Copyright (c) 2025 Vandana Gangadharan, Bhagyalakshmi Atla, Sandya Rani Guruvelli, Saritha Rani Ravada https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-10-28
publication date: 2025-10-28
starting page: 507
ending page: 509
doi: 10.32677/ijcr.v11i10.7778

Bilateral avascular necrosis of femoral heads in a case of alcohol-related acute on chronic pancreatitis
type: item
subject: Clinical Images
  topic: section
creator: Srinu Deshidi
creator: Gaurav Mahajan
creator: Sreekanth Appasani
rights: Copyright (c) 2025 Srinu Deshidi, Gaurav Mahajan, Sreekanth Appasani https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-10-28
publication date: 2025-10-28
starting page: 543
ending page: 544
doi: 10.32677/ijcr.v11i10.7776

Atypical presentation of neuromyelitis optica spectrum disorder: A diagnostic conundrum
type: item
description: Neuromyelitis optica spectrum disorder (NMOSD) is a relapsing, inflammatory demyelinating disorder of the central nervous system, most commonly presenting with optic neuritis and longitudinally extensive transverse myelitis. Diagnostic criteria rely on clinical features supported by aquaporin-4 (AQP4) antibody testing, but atypical presentations may occur, complicating recognition, especially in younger patients. We report the case of a 16-year-old female with congenital hypothyroidism and global developmental delay who presented with persistent vomiting, dysphagia, dysphonia, and vertigo. Clinical localization suggested brainstem involvement. Magnetic resonance imaging revealed lesions in the medulla extending into the cervicomedullary junction. Serum AQP4 antibody positivity confirmed NMOSD. The diagnosis was challenging due to the absence of optic neuritis and longitudinally extensive myelitis, and the patient’s young age. She improved significantly with corticosteroids and azathioprine. This case highlights the importance of considering NMOSD in atypical brainstem presentations in adolescents. Awareness of such variants, along with prompt antibody testing, is crucial for early initiation of immunotherapy and favorable outcomes.
subject: Case Report
  topic: section
subject: Area postrema syndrome
  topic: keywords
subject: Congenital hypothyroidism
  topic: keywords
subject: Demyelinating diseases
  topic: keywords
subject: Devic’s disease
  topic: keywords
subject: Neuromyelitis optica
  topic: keywords
creator: Abulkalam Atiqurrehman Sirajwala
creator: Rahenuma Yusuf Patel
creator: Ajay C Parmar
creator: Rajvi Dinesh Raval
rights: Copyright (c) 2025 Abulkalam Atiqurrehman Sirajwala, Rahenuma Yusuf Patel , Ajay C Parmar, Rajvi Dinesh Raval https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-10-28
publication date: 2025-10-28
starting page: 531
ending page: 533
doi: 10.32677/ijcr.v11i10.7767