Masab Ali’s research while affiliated with Punjab Medical College and other places

This rare case from Pakistan highlights the multifactorial etiology of Sertoli Cell Only Syndrome, emphasizing the importance of early identification and management of contributing factors such as trauma, varicocele, and surgical interventions to improve fertility outcomes.

Introduction and importance Basaloid squamous cell carcinoma (BSQCC) of the lung is a rare and aggressive subtype of squamous cell carcinoma. It predominantly affects individuals over 60 with a history of tobacco use. This case report highlights the unique presentation of BSQCC in a young, non-smoking patient, emphasizing the need for early and accurate diagnosis. Case presentation A 32-year-old male presented with a one-month history of productive cough and dyspnea. Imaging revealed a right middle lobe mass with bronchial wall thickening. Immunohistochemistry confirmed BSQCC (p63 positive, TTF-1 negative). Molecular analysis identified a TP53 mutation and ZMYND8::FOXO1 transcription, which has not been previously described in BSQCC. Despite chemotherapy with carboplatin-paclitaxel followed by a second-line regimen, rapid disease progression ensued, leading to pleural effusion, cardiac tamponade, and fatal cardiac arrest within two months. Clinical discussion This case highlights diagnostic challenges posed by BSQCC, particularly in atypical presentations without standard risk factors. Molecular findings suggest genetic diversity in BSQCC and underscore the potential for novel markers in diagnosis and prognosis. The advanced stage and rapid progression in this patient limited treatment options, demonstrating the critical need for early molecular testing and multidisciplinary care. Conclusion BSQCC is an aggressive carcinoma requiring prompt diagnosis and treatment. This case underscores the importance of heightened awareness, molecular profiling, and further research to improve outcomes in rare lung cancers.

Introduction: Merkel cell carcinoma (MCC) is a rare but aggressive neuroendocrine skin cancer with a high risk of recurrence and metastasis. It typically affects sun-exposed areas in elderly or immunocompromised individuals. Early diagnosis and management are essential due to its rapid progression and potential for early metastasis. Case presentation: We report the case of a 65-year-old male with a history of diabetes mellitus and basal cell carcinoma who developed MCC on his left upper extremity. Initial imaging, including a sentinel lymph node biopsy (SLNB) and magnetic resonance imaging (MRI), localized the tumor and assessed lymph node involvement. The SLNB was negative for metastasis, and a wide excision confirmed no residual MCC. Further imaging with positron emission tomography (PET) and computed tomography (CT) scans showed no distant metastasis, indicating localized disease. The patient underwent wide excision followed by radiation therapy (RT) (50 Gy in 25 fractions), experiencing mild post-radiation effects such as swelling and erythema. Clinical discussion: MCC poses significant diagnostic and therapeutic challenges due to its nonspecific presentation and rapid progression. In this case, early detection and appropriate imaging allowed for timely intervention. Negative SLNB results and localized disease justified the use of wide excision and MC. Multimodal treatment, including surgery and radiation, is crucial in managing localized MCC. Conclusion: This case emphasizes the importance of early detection, comprehensive imaging, and multimodal therapy in the management of MCC. Close follow-up remains essential, especially in cases with negative SLNB, to monitor for recurrence or metastasis.

Background: Cubitus varus deformity is a common complication of untreated elbow fractures in children but is rare and challenging to treat in adults. This study presents the first documented case of correcting cubitus varus deformity in an adult. Case presentation: A 26-year-old male laborer presented with a deformed left elbow and impaired limb function due to a childhood fall. Clinical examination revealed a 30-degree cubitus varus deformity (Grade IV), confirmed by x-rays of the limb showing malunion with increased Baumann’s and metaphyseal-diaphyseal angle. The surgical intervention involved a dome osteotomy using a triceps-splitting approach under general anesthesia. The deformity was corrected by manipulating the distal fragment in the coronal and sagittal planes and fixing it with a dynamic compression plate and interfragment screw. Postoperative care included immobilization in a long arm cast and progressive rehabilitation. Clinical discussion: This case demonstrates the effectiveness of dome osteotomy in correcting adult cubitus varus deformity. The technique provides precise correction by targeting the center of rotation of angulation, ensuring superior bone contact and stability. It also minimizes periosteal dissection, reducing the risk of thermal necrosis and preserving bone length. As compared to other osteotomy techniques, dome osteotomy allows for correction in multiple planes and achieves better functional and cosmetic outcomes, despite being technically demanding. Conclusion: Dome osteotomy is an effective surgical option for correcting cubitus varus deformity in adults, providing excellent functional and aesthetic results. This case highlights the importance of precise preoperative planning and meticulous surgical execution for optimal outcomes in patients with complex deformities.

Introduction and importance Cerebral venous sinus thrombosis (CVST) is a rare but serious condition that can cause permanent neurological impairments if not promptly diagnosed and treated. Its nonspecific presentation, such as headache and altered awareness, often delays diagnosis. Postpartum women are at heightened risk for CVST, necessitating vigilance. Case presentation We describe a 25-year-old woman diagnosed with CVST two weeks postpartum. She presented with fever, severe headache, impaired vision, expressive dysphasia, and disturbed mental status. Magnetic resonance imaging and magnetic resonance venography confirmed multiple thrombosed cerebral sinuses. The patient was treated with low-molecular-weight heparin (LMWH), followed by rivaroxaban, and demonstrated significant clinical improvement. She was subsequently discharged on oral anticoagulation therapy. Clinical discussion This case emphasizes the significance of maintaining a high level of suspicion for CVST in postpartum women who exhibit neurological symptoms. Early detection and intervention are essential to stop the disease’s course and reduce its long-term effects. The use of anticoagulation medication, commencing with LMWH followed by oral anticoagulants like Rivaroxaban, was beneficial in this patient, illustrating the typical approach to CVST management. Conclusion CVST in postpartum women requires prompt diagnosis and anticoagulation therapy to prevent severe complications. High clinical suspicion and early intervention can mitigate long-term neurological sequelae. Further research is needed to explore intensive treatment strategies for high-risk populations.

Introduction and importance Acute appendicitis is a common emergency, but its variable presentation can delay diagnosis and treatment, leading to severe complications. Necrotizing fasciitis, although rare, can arise as a life-threatening consequence of perforated appendicitis. Prompt recognition and intervention are crucial to prevent fatal outcomes. Case summary A 23-year-old male presented with right iliac fossa pain and vomiting. Physical examination revealed tenderness and rebound tenderness in the right iliac fossa, with an Alvarado score of 7/10 and leukocytosis, suggestive of acute appendicitis. Emergency laparotomy revealed a perforated appendix with purulent fluid, which was drained, and abdomen was irrigated. Postoperatively, the patient initially stabilized but deteriorated on the second postoperative day. A CT scan revealed multiple abscesses and necrotizing fasciitis of the abdominal wall. Re-exploration with abscess drainage and debridement was performed, but the patient developed septic shock and multiple organ failure, leading to his death. Discussion This case underscores the potential for severe complications like necrotizing fasciitis following perforated appendicitis, even in previously healthy individuals. Delays in diagnosis and imaging, as well as reliance solely on clinical judgment, can contribute to adverse outcomes. Early recognition of necrotizing fasciitis and aggressive management, including broad-spectrum antibiotics and surgical debridement, are essential to improve survival in such cases. Conclusion Delayed diagnosis and management of acute appendicitis can result in rare but fatal complications such as necrotizing fasciitis. This case emphasizes the importance of timely intervention, imaging, and a high index of suspicion to mitigate mortality in these uncommon but severe presentations.

Introduction Tailgut cysts, or retro-rectal cystic hamartomas, are rare congenital lesions arising from embryonic hindgut remnants, typically located in the retro-rectal area. These cysts present some diagnostic challenges due to vague symptoms and potential for malignancy. Case presentation A 25-year-old female presented with a five-year history of perianal swelling. MRI revealed a T2 hyperintense, multiseptated cystic lesion suggestive of a tailgut cyst. The cyst was surgically excised via a trans-sacral approach, and the specimen was sent for histopathological analysis. Clinical discussion The MRI findings were confirmed by histopathology, identifying a benign tailgut cyst. The patient had an uneventful recovery and was symptom-free at the two month follow-up. Conclusion Tailgut cysts can mimic other perianal masses, complicating diagnosis. Accurate diagnosis and successful treatment rely on clinical vigilance, advanced imaging, and histopathological confirmation. Early surgical resection is crucial to prevent complications, including malignancy.

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder because of NTRK1 gene mutations, leading to an inability to perceive pain and temperature and lack of sweating. Its rarity and unique clinical challenges, such as severe injuries from the inability to sense pain, make reporting cases critical. A 5‐year‐old boy, the third child of consanguineous parents, was referred for a fractured femur. His history includes recurrent fevers, pain insensitivity, self‐mutilation, and anhidrosis with compensatory hyperhidrosis. Examination showed multiple ulcers, dry skin, missing digits, dental issues, and corneal ulcers. The neurological assessment confirmed loss of pain and temperature sensation. Genetic testing confirmed NTRK1 mutations, diagnosing CIPA. The femur fracture was treated with a hip spica cast, and injury prevention and temperature management were advised to the parents. This case underscores the importance of early diagnosis and comprehensive management of CIPA, highlights the need for genetic counseling for at‐risk families, and provides insights into managing the condition's complex challenges. A multidisciplinary approach is essential to improve patient outcomes and quality of life.

Pemphigus foliaceus (PF) is a rare autoimmune blistering disorder requiring consistent immunosuppressive therapy for management. A 66‐year‐old male with a history of PF presented with worsening blisters and erosions after discontinuing medication. The patient had flaccid bullae and erosions on the face, scalp, chest, and back. Histopathology confirmed PF. Treatment with oral prednisolone, azathioprine, and reinitiation of dexamethasone‐cyclophosphamide pulse (DCP) therapy led to disease remission. This case underscores the importance of adherence to immunosuppressive therapy in PF management. It also highlights the role of affordable treatment regimens in ensuring patient compliance and successful outcomes.