Atypical Guillain-Barre Syndrome with Focal Seizures and CSF Pleocytosis: A Rare Entity.

Fabry disease (FD) is an X-linked inherited lysosomal disorder secondary to the deficiency of the alpha-galactosidase A enzyme. Reduced alpha-galactosidase activity results in the accumulation of globotriaosylceramide in cells, leading to progressive organ damage and reduced life expectancy. We hereby present a case of a young male suffering from a burning sensation over his extremities for the past 10 years. He developed red, raised, pinhead-sized lesions over his body gradually over the last 8 years and was referred to the dermatology outpatient department from a neurologist. Incidentally, the patient was diagnosed with angiokeratoma corporis diffusum on the basis of examination, dermoscopy, and histopathology, and a diagnosis of Fabry’s disease was contemplated. Alpha-galactosidase enzyme levels were within normal limits, and gene testing was recommended, which the patient could not afford. A diagnosis of Fabry’s disease was established based on strong clinical suspicion and histopathological findings. This case highlights that clinical symptoms of Fabry’s disease can manifest even with normal enzyme levels and no family history.

Pseudoaneurysms of the superficial palmar arch are rare entities and only a few cases have been described in the English literature 1-10.

Mature cystic teratoma is the common ovarian tumor in women of reproductive age. The malignant transformation of mature cystic teratomas is a rare entity. The most common malignant tumor in mature cystic teratomas is squamous cell carcinoma, A 50 years old postmenopasual women, admitted in a private hospital, Sylhet, Bangladesh with the complaints of feeling of lump in the abdomen for the past 3-4 months, associated with abdominal pain for one week and occasional constipation. The patient was diagnosed clinically as a case of ovarian tumor. CT findings were consistent with dermoid cyst. The patient underwent Total Hysterectomy with Bilateral Salpingo-Oophorectomy (TH with BSO). Histopathological examination confirmed the diagnosis of squamous cell carcinoma arising on mature cystic teratoma. Journal of Current and Advance Medical Research, July 2024;11(2):123-125

Purpose: o report and characterize malposition of the inferior oblique (IO) muscle observed during orbital surgeries for congenital and acquired pathologies. Study Design: Descriptive case series. Place and Duration of Study: Al- Shifa Trust Eye Hospital, Rawalpindi from June 2004 to June 2024. Methods: In this study, all the patients who underwent orbital surgery during the 20 years, by one experienced orbital surgeon, were reviewed. Out of 1200 cases of orbital surgeries four cases were identified for the study. In all four cases, IO mal position was directly observed during orbital surgery. Pre-operative orbital imaging studies could not find the malposition. All surgeries were performed by the same surgeon under general anesthesia. In addition to the planned surgical procedure, an attempt was also made to re-position the abnormal-origin IO. Results: Out of the four patients with IO malposition, there were two females and two males. Two patients presenting with congenital dermoid cysts had a normal birth history with no history of any surgery or trauma. The other two patients with acquired malposition had a history of trauma and previous surgery. Conclusion: IO malposition is a rare entity. It is difficult to predict pre-operatively so while performing orbitalor strabismus surgeries, one should be very careful and watchful to prevent damage to ectopic muscles.

A 28 year old male presented to the emergency department with intractable vomiting and retrosternal chest pain on a background of poorly controlled type 1 diabetes mellitus.

Diabetes mellitus, a notorious global health concern, presents with a broad spectrum of microvascular and macrovascular complications, of which peripheral neuropathy and diabetic retinopathy are well known however, isolated sixth nerve palsy is a rare entity noticed in the diabetic population.

Background Gastric-type endocervical adenocarcinoma (G-EAC) is a rare malignancy, and its clinicopathological characteristics remain poorly defined. This study aimed to evaluate the real-world features, treatment patterns, and outcomes of patients with G-EAC. Methods Clinical data from 124 patients diagnosed with G-EAC between 2012 and 2024 across four tertiary hospitals in China were retrospectively analyzed. Clinicopathological features, therapeutic approaches, and survival outcomes were assessed. Overall survival (OS) was the primary endpoint. Kaplan–Meier and Cox regression analyses were performed to identify prognostic factors. Results The median diagnostic age was 55 years (range, 33–82). At presentation, 62.1% of patients had invasion or metastasis, most commonly lymphovascular (47.6%). Surgery was performed in 81.5% of cases, and 84.7% received chemotherapy, primarily platinum-based (81.5%). Radiotherapy was administered to 69.4%. The 1-, 3-, and 5-year OS rates were 78.6%, 54.8%, and 46.1%, respectively. Older age (≥65 years; HR, 4.71; 95% CI, 1.52–14.58; p = 0.0071) and advanced stage (p < 0.05) predicted poorer OS, while surgery (HR, 0.10; 95% CI, 0.02–0.43; p = 0.0019) and multiple chemotherapy cycles (p < 0.05) were independent protective factors. Conclusions G-EAC exhibits aggressive behavior and unfavorable prognosis, with a 5-year OS of 46.1%. Multimodal treatment, particularly surgery combined with chemotherapy, remains the cornerstone of management and may improve survival. Prospective multicenter studies are warranted to further define optimal therapeutic strategies for this rare entity.

Background: Intradural spinal ependymomas are rare neoplasms derived from ependymal cells that typically arise within the spinal cord parenchyma. Extramedullary localization is exceptionally uncommon and often not considered in the differential diagnosis of spinal tumors. The tanicytic subtype, in particular, represents a distinct histological variant that further complicates clinical and radiological diagnosis. Objective: This study aims to present a rare case of primary extramedullary cervical spinal ependymoma and to review the current literature on its clinical features, diagnostic strategies, histopathological characteristics, surgical management, and outcomes. Methods: We conducted a comprehensive literature review and present a detailed case report of a 52-year-old male patient with a primary extramedullary cervical ependymoma. A descriptive research design based on published scientific data was used to contextualize the clinical presentation, diagnostic findings, surgical treatment, and postoperative outcome. Results: The patient presented with a one-year history of cervical pain and progressive left-sided brachialgia. Magnetic resonance imaging revealed a well-defined, hyperintense intradural extramedullary lesion at the C5–C6 level. Surgical excision was performed under intraoperative neuromonitoring, achieving total removal of the tumor. Histopathological examination confirmed a tanicytic ependymoma (WHO Grade II). Postoperative recovery was uneventful, with complete resolution of radicular symptoms and no neurological deficits. Conclusion: Primary extramedullary spinal ependymomas are exceedingly rare entities that should be considered in the differential diagnosis of intradural extramedullary lesions. Complete surgical resection remains the gold standard for treatment, often resulting in excellent neurological outcomes. Further studies are required to elucidate the pathogenesis, optimal management, and long-term prognosis of these tumors.

Background: Mediastinal gray zone lymphoma (MGZL) is a rare B-cell lymphoma characterized by overlapping clinicopathologic and molecular features of primary mediastinal B-cell lymphoma (PMBL) and classical Hodgkin lymphoma (CHL). Under current WHO-HEMA5 and International Consensus Classification (ICC) frameworks, MGZL is restricted to EBV-negative lymphomas arising in the mediastinum. Methods: This review summarizes current evidence on epidemiology, clinical presentation, pathology, molecular characteristics, diagnostic challenges, and therapeutic approaches to MGZL, with data derived from retrospective series, limited prospective cohorts, and recent molecular studies. Results: MGZL predominantly affects young adults and commonly presents with bulky mediastinal disease. Diagnosis is challenging due to transitional morphology, pleomorphic Reed–Sternberg-like cells, and variable expression of B-cell and activation markers. Molecular studies demonstrate shared alterations with PMBL and CHL, including 9p24.1 (JAK2/PD-L1/PD-L2) gains, while additional reported features such as HOXA5 hypomethylation and MYC copy number gains support its biological distinctiveness, although evidence remains limited. Frontline treatment commonly involves intensive chemoimmunotherapy regimens such as DA-EPOCH-R; however, outcomes remain inferior to PMBL and CHL, with 5-year overall survival rates of approximately 40–60%. Relapsed or refractory disease frequently requires salvage chemotherapy and autologous stem cell transplantation. Immune-based therapies, including brentuximab vedotin and PD-1 inhibitors, have shown promising activity, particularly in combination. Conclusions: MGZL remains a diagnostically challenging and therapeutically complex lymphoma with inferior outcomes compared with related mediastinal lymphomas. Advances in molecular profiling and immunotherapy offer promising avenues toward more personalized treatment; however, prospective clinical trials and international collaboration are urgently needed to establish evidence-based management strategies for this rare entity.

Background/Objectives: Appendiceal collision tumors (ACTs), defined by the coexistence of two or more histologically distinct neoplastic components within the appendix, are rare entities. We aimed to characterize their clinicopathologic features, management strategies, and outcomes by integrating an institutional case series with a systematic review of the literature. Methods: We retrospectively identified ACTs diagnosed at our institution and performed a PRISMA 2020-guided search of PubMed, Scopus, and Web of Science databases through May 2025 for case reports and case series. Two reviewers screened studies and extracted data on presentation, histologic composition, treatment, approaches and outcomes. Results: ACTs accounted for 4% of appendiceal tumors in our institution, all combining a neuroendocrine neoplasm (NEN) with a low-grade appendiceal mucinous neoplasm. The literature search identified 69 ACTs from 33 studies; pooled with our cases, 74 patients were evaluated. The most common pairings were NEN–appendiceal mucinous neoplasm (53%) and NEN–adenocarcinoma (26%), while three-component tumors were rare (n = 2). Early-stage tumors (pTis–pT1) were uniformly managed with appendectomy or limited resection, in line with established stage-based management algorithms for appendiceal neoplasms. Advanced-stage tumors (pT3–pT4) were treated according to the biologically dominant component, frequently with colectomy and, in high-risk mucinous disease, cytoreductive approaches. Across stages, outcomes appeared to be driven by the non-neuroendocrine component; a coexisting low-grade NEN did not independently confer worse prognosis. In ACTs with an adenocarcinoma component, goblet cell morphology was common, and outcomes appeared similar to those reported for non-collision appendiceal adenocarcinoma. Conclusions: ACTs represent a heterogeneous group in which prognosis is dictated by the non-neuroendocrine component and tumor stage. Low-grade NEN components appear biologically indolent, whereas adenocarcinoma and high-risk mucinous components have been observed to exhibit behavior similar to their solitary counterparts.

While inguinal hernias are among the most common surgical conditions, an Amyand’s hernia, defined by the presence of the appendix within an inguinal hernia sac, is a rare clinical entity. A case of a 92-year-old woman who presented to the emergency department with two days of abdominal pain and a non-reducible right inguinal mass compatible with an incarcerated hernia. Emergency surgery revealed an inflamed appendix within the hernia sac; appendectomy and hernia repair using the Lichtenstein technique were performed, resulting in an uneventful recovery. Amyand’s hernia is often asymptomatic and usually diagnosed incidentally during surgery, whether elective or emergent in case of incarcerated or strangulated hernia. Acute appendicitis may be present and increases the risk of complications. Management depends on the appendix’s inflammatory state and hernia complexity, typically involving appendectomy and hernia repair. Various classification systems provide guidance to treatment however surgical decisions should be tailored to patient-specific factors and surgeon expertise. More studies are needed in order to establish guidelines.

Granulomatous tubulointerstitial nephritis (TIN) is a rare histological entity detected in less than 1% of kidney biopsies1. It is caused by diverse etiological agents including drugs , infections , autoimmune diseases , tuberculosis, sarcoidosis and idiopathic. 46 yrs old lady had history of nephrotic Syndrome in 2006 and T2DM since 2011. She was evaluated for dry cough, low grade fever and uncontrolled diabetes mellitus in Oct 2024. Evaluation revealed hypercalcemia and advanced renal dysfunction, normal serum angiotensin converting enzyme (ACE) level , No M band, normal K:L ratio , normal Vit D level and intact parathyroid hormone (i PTH) level. CT chest showed multiple confluent nodules in lungs, mediastinal &amp; bilateral hilar lymphadenopathy. Ultrasonography showed normal size kidneys and fundus examination was normal. She underwent kidney biopsy and fibro optic bronchoscopy. Mycobacterium tuberculosis (MTB) GenXprt was negative. Native kidney biopsy showed the presence of multiple closely packed, non-necrotising, naked epithelioid cell granulomas with surrounding minimal lymphomononuclear cell infiltrate. Reticulin fibre rich granuloma kidney tissue and Romanowsky stain in lung tissue showing slipper shaped epitheloid cell granuloma suggest diagnosis of sarcoidosis. She was managed with steroids and showed good recovery of renal function. Steroids tappering started after 1 month. Renal sarcoidosis usually presents with nephrocalcinosis or renal calculi due to hypercalciuria, granulomatous renal involvement is rare. In our patient MTB polymerase chain reaction (PCR) was negative and serum ACE levels were also normal. In such a setting additional histology inputs like reticulin fibre rich granuloma and slipper shaped epithelioid cell granuloma suggested diagnosis of sarcoidosis.

The Transient Perivascular Inflammation of the Carotid Artery (TIPIC) syndrome is a rare clinical entity, leading to tenderness and acute pain at the carotid bifurcation without an identifiable cause 1, 2. First described by Fay in 1927 3 and later by Roseman in 1967 4, it was formerly known as Fay syndrome or idiopathic carotidynia/carotidodynia 3-5. TIPIC syndrome is a benign condition with a favorable course, and its diagnosis is based on clinical presentation coupled with radiological findings.

Abstract Background Wandering spleen is a rare clinical entity, accounting for less than 0.5% of all splenectomies. It results from congenital or acquired laxity or absence of the splenic suspensory ligaments, increasing the risk of torsion and infarction. Symptoms are often vague, making diagnosis challenging. We report a case of acute splenic torsion in a patient with concurrent situs inversus, intestinal nonrotation, and multiple splenic artery aneurysms. To our knowledge, this association has not been previously described. Case Presentation A 42-year-old woman undergoing investigations for infertility and intermittent abdominal pain was found to have situs inversus totalis, intestinal nonrotation, a pelvic wandering spleen, and two 2 cm splenic artery aneurysms. Prophylactic splenectomy was considered but deferred. She presented with acute right iliac fossa pain, a tender palpable mass, and signs of local peritonitis. CT demonstrated a splenic torsion with a ‘whirl sign’ and infarction. Emergency laparotomy confirmed situs inversus and intestinal nonrotation. The spleen was twisted 1440° around a long vascular pedicle with engorgement and infarction. A splenectomy to include the aneurysms and appendicectomy were performed. Postoperative recovery was uneventful. Discussion Wandering spleen and intestinal nonrotation both result from disrupted embryological fixation of the dorsal mesentery. Situs inversus may share embryological basis of visceral orientation. When situs inversus is combined with intestinal nonrotation, anatomical orientation becomes particularly challenging. Conclusions Chronic intermittent splenic torsion should be considered in patients with nonspecific abdominal pain and a mobile spleen. Definitive management with splenectomy or splenopexy should be considered based on individual risk factors and anatomical considerations.

Abstract Background Spontaneous intrahepatic bile duct rupture is a rare but serious cause of biliary peritonitis. Most reported cases involve children with choledochal anomalies or adults with obstructive biliary pathologies. Pathogenesis remains poorly understood, but increased intraductal pressure and ischaemia are likely contributors. Ruptures often occur in hepatic segment IV, due to its superficial location and susceptibility to pressure changes. In pregnancy, symptoms may mimic obstetric emergencies, often delaying diagnosis and management. Case Presentation A 22-year-old woman at 36 weeks’ gestation with known gallstones presented with severe abdominal pain and foetal distress. Emergency Caesarean section was performed for suspected placental abruption. Intraoperatively, brown-green fluid was seen in the pelvis, presumed by the obstetric team to be secondary to endometriosis. A drain was placed, and no further action taken. Postoperatively, the patient developed fever, tachycardia, and raised inflammatory markers. High drain bilious output prompted surgical review. CT showed a large amount of free fluid, a segment 4b liver collection, and a left portal vein thrombosis. Laparoscopy showed a normal gallbladder and duodenum but identified a biloma with active bile leak from a ruptured intrahepatic duct. The duct was sutured and the biloma drained. ERCP confirmed no distal obstruction or further leak. The patient recovered well and underwent elective cholecystectomy three months later. Conclusions This case illustrates the diagnostic challenge of rare biliary pathologies in pregnancy. Awareness of this rare entity is important not only for surgeons but also for obstetric team, as timely recognition and surgical intervention are critical.

Myeloid sarcoma (MS) involving the skull base is an exceptionally rare clinical entity, with limited cases described in the literature. Due to its radiological similarity to meningiomas and other extraaxial lesions, MS often leads to misdiagnosis and delayed treatment. Insights from reported cases suggest that early histopathological confirmation and systemic therapy are critical for improving prognosis. To present a rare case of skull base MS mimicking en plaque meningioma and to contextualize its clinical, radiological, and pathological features with respect to existing literature, emphasizing key diagnostic and therapeutic challenges. A 56-year-old man with a history of acute myeloid leukemia presented with a new-onset seizure. MRI showed a 38 × 37mm extra-axial skull-base mass radiologically read as en plaque meningioma, with perilesional edema and suspected extension toward the right brachial plexus. Subtotal resection was performed for decompression and diagnosis. Histology revealed immature myeloid cells with CD43+, CD45+, CD33+, CD117+, CD68+, focal MPO+, CD34-; the Ki-67 index was 80-90%, indicating highly proliferative, aggressive biology. The postoperative course was uneventful without new deficits; mild headaches improved. This case underscores the diagnostic challenge of skull-base MS due to radiological mimicry and highlights an unusual brachial plexus extension, broadening its clinical spectrum. biopsy, prompt systemic therapy, and multidisciplinary management are essential, particularly in the presence of a very high Ki-67.

Acute myocardial infarction (AMI) concomitant with iliac artery thrombosis in the absence of underlying hematological disorders or cardiac arrhythmias is an exceedingly rare clinical entity. We report a case of a 55-year-old male with a history of hypertension and chronic smoking who presented with epigastric pain and nausea. On initial evaluation, electrocardiography showed no ST-segment elevation. While under observation, the patient developed abrupt-onset, severe pain in the left lower limb. A subsequent electrocardiogram demonstrated ST-segment elevation in leads II, III, and aVF, consistent with an inferior ST-segment elevation myocardial infarction (STEMI). Given the concomitant onset of lower limb pain, thoracoabdominal computed tomographic angiography was promptly performed, revealing complete occlusion of the left common iliac artery with extension into the internal and external iliac arteries. The patient underwent emergent primary percutaneous coronary intervention with successful stent deployment in the right coronary artery, followed by referral to a tertiary vascular surgery center for definitive management of the iliac artery thrombosis. This case underscores the importance of maintaining a high index of suspicion for multiple simultaneous vascular events in the setting of acute coronary syndromes, particularly when novel or atypical symptoms develop.

Tuberculosis remains a major global health challenge, and central nervous system involvement, though uncommon, can manifest as intracranial tuberculoma. We report a rare case of a 67-year-old woman with no prior tuberculosis history who presented with progressive left leg mobility issues and speech difficulties over 2 weeks. Neurological MRI revealed a distinctive dura-adherent lesion resembling a "carpet." As her condition deteriorated, total resection was performed, with pathologic examination confirming tuberculoma. Following 1 week of recovery, the patient was transferred for anti-tubercular therapy. This case is notable not only for its unusual dural attachment and carpet-like morphology but also for its occurrence in an elderly female, making it an exceptionally rare clinical entity.

Fibroepithelial polyps are benign mesodermal lesions that are an uncommon occurrence within the external auditory canal and the middle ear. The present case involves a 39-year-old male patient who has been experiencing hearing loss and intermittent ear discharge for a period of 10 years. Otoscopic examination revealed a smooth mass that completely filled the external auditory canal. A thorough analysis of the computed tomography results revealed the presence of soft-tissue density extending to the middle ear and Eustachian tube, with no evidence of bone destruction. Noncontrast magnetic resonance imaging showed a T1 hypointense signal, a T2 hyperintense signal, and no diffusion restriction. This case exemplifies an exceedingly rare condition involving a substantial portion of the temporal bone. It is essential to be aware of this condition to prevent misdiagnosis as a malignant lesion. An accurate diagnosis depends on a radiological-histopathological correlation.