Management of a mesenteric vascular tumor with sirolimus in a 7-year-old child: a case report

Childhood anemia is a very common problem in India, out of which more than one-third is attributed to vitamin B12 deficiency. To follow up on a girl with recurrent anemia who was later diagnosed with hereditary intrinsic factor deficiency. An eight-year-old girl presented with recurrent anemia, easy fatigability, poor appetite, and abdominal pain for one month. The hemoglobin was 4.3 g/dL, and the peripheral smear showed a dimorphic picture. Serum vitamin B12 was severely low at <50 pg/mL. After a packed red blood cell transfusion, she was advised to take oral vitamin B12 and iron supplements. Her symptoms and vitamin B12 levels did not improve on follow-up, which led to suspicion of a congenital intrinsic factor deficiency (proven by whole exome sequencing). The child is currently doing well on monthly vitamin B12 injections. This case highlights the importance of considering rare inherited causes in a child with recurrent severe anemia, even in regions where nutritional deficiencies are common.

Abdominal epilepsy is rare but under-recognised, characterised by paroxysmal abdominal symptoms with no identifiable gastrointestinal cause. A 77-year-old woman had a lifelong history of brief nocturnal episodes of abdominal cramping followed by transient confusion and speech difficulty. An MR scan of brain within 24 hours of an event identified cortical diffusion restriction and increased FLAIR signal in the left frontal operculum and insular cortex, consistent with peri-ictal MRI abnormalities. Electroencephalography was normal. Her symptoms completely resolved after starting antiseizure medication. This case highlights the importance of considering neurological causes in unexplained recurrent abdominal pain and expands the phenotypic and radiological spectrum of abdominal epilepsy. The involvement of the insular cortex, a central hub for autonomic and viscerosensory processing, provides imaging-based evidence supporting its role as a key anatomical substrate in abdominal epilepsy.

Nutcracker syndrome (NCS) is an uncommon vascular compression disorder resulting from entrapment of the left renal vein (LRV), most often between the superior mesenteric artery and the abdominal aorta. Although it is well described in adults, the condition remains underdiagnosed in children because of its nonspecific and variable clinical manifestations. We report the case of a 15-year-old adolescent girl presented with recurrent epigastric abdominal pain, nonbilious vomiting, retrosternal chest pain, and severe dysmenorrhea, without hematuria or flank pain. Initial laboratory investigations, urinalysis, and cardiac evaluation are unremarkable. Ultrasonography visualized the head of the pancreas as appearing mildly heterogeneous. Upper gastrointestinal endoscopy showed nonspecific gastropathy. Contrast-enhanced computed tomography of the abdomen and pelvis demonstrated a markedly reduced aortomesentric angle with compression of LRV, consistent with anterior nutcracker. The patient was managed conservatively with dietary modification and symptomatic therapy, resulting in significant clinical improvement. This case highlights the importance of considering NCS in adolescents presenting with unexplained abdominal or chest pain and emphasises the role of appropriate imaging in diagnosis. Conservative management remains the preferred approach in pediatric patients owing to the high likelihood of spontaneous resolution with growth and weight gain.

Acute intermittent porphyria (AIP) is a rare metabolic disorder of heme biosynthesis. It usually presents with abdominal pain, gastrointestinal disturbances, and neuropsychiatric manifestations. Posterior reversible encephalopathy syndrome (PRES), characterized by seizures, altered mental status, and characteristic imaging findings, is an unusual and under-recognized presentation of AIP. We present the case of a 16-year-old South Asian male with a 2-month history of recurrent abdominal pain, nausea, vomiting, and constipation, who developed sudden-onset generalized tonic-clonic seizures. Initial workup revealed hyponatremia and elevated liver enzymes. MRI of the brain showed findings consistent with PRES. Further history and investigations, including elevated urinary porphobilinogen levels, confirmed the diagnosis of AIP. The patient was managed conservatively with carbohydrate loading, avoidance of precipitating factors, and antiepileptic therapy, leading to gradual clinical improvement. A repeat MRI showed partial resolution of lesions, confirming the reversibility of PRES. This case highlights the importance of considering AIP in young patients presenting with gastrointestinal and neurological symptoms. PRES as a manifestation of AIP is rare but should be recognized promptly, as early diagnosis and conservative management can lead to a favorable outcome.

Background: Irritable Bowel Syndrome (IBS) is a prevalent functional gastrointestinal disorder significantly impacting quality of life, with university students, particularly those in demanding healthcare programs, being uniquely vulnerable due to academic stress and lifestyle changes. This study addresses the paucity of localized data on IBS among pharmacy students in Libya. Aim: To investigate the prevalence and determinants of IBS, and its association with lifestyle and psychological factors, among third and fourth-year pharmacy students at the University of Zawia. Methods: A cross-sectional study was conducted in December 2025 at the Faculty of Pharmacy, University of Zawia, involving 140 third and fourth-year pharmacy students (70 from each year). Data were collected using a structured, pre-validated questionnaire covering demographics, gastrointestinal symptoms, lifestyle, psychological factors, and medical awareness. Statistical analysis was performed using SPSS version 26, with Chi-square or Fisher's exact tests, and a P-value &lt; 0.05 considered statistically significant. Results: The study population was predominantly female (97.1% in 3rd year, 98.6% in 4th year). While overall recurrent abdominal pain and its relation to bowel movements did not differ significantly between years, a statistically significant difference was found in bowel habits (P = 0.049), with predominantly diarrhea higher in the third year (22.9%) and predominantly constipation higher in the fourth year (31.4%). Fourth-year students exhibited significantly higher rates of sleeping less than 6 hours (54.3% vs. 30%, P = 0.012) and reported very high stress levels (38.6% vs. 1.4%, P &lt; 0.001). IBS symptoms significantly worsened during exams for fourth-year students (92.9% vs. 74.3%, P = 0.006), and certain food triggers were more common in this group (70% vs. 51.4%, P = 0.049). Physician consultation and formal IBS diagnosis rates did not differ significantly between the two groups. Conclusion: IBS is prevalent among pharmacy students at the University of Zawia, with its severity and manifestation strongly linked to academic stress, sleep deprivation, and dietary habits, particularly as students advance in their curriculum. These findings highlight the critical need for targeted interventions, including psychological support, stress management, and wellness initiatives, to improve student well-being and academic success.

Our cohort demonstrated delays between presentation and surgery. Malrotation must be considered in cases of recurrent abdominal pain or vomiting. USS is not reliable in this cohort. We recommend these children undergo UGI or cross-sectional imaging to exclude malrotation. Timely diagnosis and intervention will prevent morbidity and mortality. • Malrotation in older children is known to have a less specific presentation than classical neonatal malrotation associated with bilious vomiting. This can delay diagnosis and intervention. • This would be the largest cohort in the European literature comprehensively reporting presentations, investigations and outcomes for children with malrotation over the age of 1year. In providing this information, our study helps clinicians identify patients in need of investigation for malrotation and what investigations can be relied upon in this context. This should help provide timely investigation and management of these children, reducing their risk of morbidity and mortality.

ABSTRACTWandering spleen (WS) is a rare congenital anomaly characterized by abnormal mobility of the spleen due to laxity of the splenic suspensory ligaments. WS can result in complications such as torsion, infarction, and involvement of adjacent structures including the pancreas. This report details a unique case of WS complicated by acute pancreatitis due to splenic torsion. A 45‐year‐old multiparous woman with a history of psoriasis, gastro‐esophageal reflux disease, and chronic pain presented with recurrent left upper quadrant abdominal pain and biochemical signs of pancreatitis. Cross‐sectional imaging revealed splenomegaly, abnormal spleen positioning, and torsion of the splenic pedicle with a transient elevation in lipase. A multidisciplinary team diagnosed intermittent splenic torsion and detorsion complicated by traction on the pancreatic tail, leading to pancreatitis. Despite the recurrent nature of her symptoms, the patient remained clinically stable, allowing for elective robotic splenectomy. Intraoperatively, the spleen was found in the pelvis. Notably, the tail of the pancreas was also mobile and displaced from its normal location, necessitating a pancreatopexy to anchor and secure the body and tail of the pancreas within the left upper quadrant, thereby restoring normal anatomy and reducing the risk of future displacement. Wandering spleen can be a rare but important cause of recurrent abdominal pain and acute pancreatitis. Timely recognition of its imaging features and complications, such as splenic torsion and pancreatic inflammation, is essential. Elective splenectomy or splenopexy should be considered for patients with preserved splenic function and stable clinical status.

Lead is known to exert toxic effects on nearly all tissues and organ systems, with the nervous, gastrointestinal, and haematopoietic systems being particularly vulnerable. In humans, lead interferes with haemoglobin synthesis, leading to anaemia, and its disruption of porphyrin metabolism can trigger abdominal pain due to vasospasm. Cases due to lead poisoning are an uncommon presentation in healthcare facilities and often overlooked as a cause of anaemia and abdominal pain. Although occupational exposure remains a well-established source of lead poisoning, non-occupational factors, such as the use of metal cookware, are gaining importance as potential contributors in daily life. We report a case of a 48-year-old man presenting with a two-month history of crampy abdominal pain, fatigue, and constipation. After a detailed history and physical examination, other possible causes were excluded and revealed his recent use of a new cookware to ferment rice. Subsequent testing showed an elevated blood lead level of 87.2 μg/ dL. The patient recovered after chelation therapy. Lead poisoning can cause nonspecific symptoms like abdominal pain, anaemia, and neuropathy, often leading to misdiagnosis. Delayed diagnosis may result in irreversible harm. It should be considered in emergency cases of unexplained abdominal pain after ruling out common causes. This case highlights the importance of paying attention to subtle, often overlooked aspects of a patient’s daily routine. Maintaining a broad differential diagnosis and asking targeted questions can be crucial in identifying uncommon causes and achieving a timely, potentially life-saving diagnosis.

Intra-abdominal desmoid tumours are rare, benign yet locally aggressive fibroblastic neoplasms that often mimic malignancies such as gastrointestinal stromal tumours (GIST) on imaging, making preoperative diagnosis challenging. We present the case of a woman in her mid-30s with a 6-month history of recurrent colicky abdominal pain and intermittent non-bilious vomiting during abdominal pain. Examination revealed a firm, mobile, non-tender mass in the right iliac fossa. Colonoscopy showed a submucosal caecal lesion without ulceration, and contrast-enhanced CT revealed a well-defined, heterogenous, enhancing lesion arising from the caecum suggestive of caecal GIST. Intraoperatively, a firm caecal mass with mesenteric fibrosis and terminal ileal dilatation was found. A limited right hemicolectomy was performed after a frozen section showed a spindle cell tumour. Immunohistochemistry demonstrated nuclear β-catenin positivity with negative C-kit (CD117), discovered on GIST 1 (DOG1), and desmin, confirming mesenteric desmoid fibromatosis. Surgery remains the mainstay of treatment in symptomatic cases.

Branchio-oto-renal syndrome is a rare autosomal dominant disorder characterized by hearing impairment, branchial arch anomalies, preauricular pits, and renal malformations. Although recurrent abdominal pain is not a classic feature, it can arise owing to renal complications such as hydronephrosis. An 8-year-old Arab boy with a history of congenital sensorineural hearing loss presented to the emergency department with recurrent right flank pain radiating to the anterior abdomen occurring approximately every 2weeks over 4months. Previous treatments for suspected irritable bowel syndrome and enteritis were ineffective. Physical examination revealed a significant left preauricular pit and right costovertebral angle tenderness; no branchial fistula or external ear deformities were noted. Urinalysis showed moderate proteinuria, marked pyuria, and microscopic hematuria. Renal ultrasound revealed mild-to-moderate bilateral hydronephrosis, hypoechoic areas, mild pelvicalyceal dilatation, and early cystic changes, supporting the diagnosis of branchio-oto-renal syndrome. The patient was started on empirical intravenous antibiotics, and a urine culture was obtained; laboratory tests 48-72hours after antibiotic initiation showed partial improvement in inflammatory markers and urinary sediment findings. However, serum creatinine remained mildly elevated (1.10mg/dL), flank pain persisted, and renal ultrasound findings supported a congenital or obstructive renal anomaly. Further ear, nose, and throat and urologic evaluation were recommended; the patient was subsequently lost to follow-up. In children with congenital hearing loss, recurrent abdominal/flank pain should prompt renal evaluation and consideration of syndromic diagnoses such as branchio-oto-renal syndrome. Early systemic screening and genetic counseling are advised.

Our manuscript presents a rare case of idiopathic mesenteric phlebosclerosis (IMP) in a 73-year-old woman who experienced recurrent abdominal pain and diarrhea. Through a detailed clinical investigation, including laboratory tests, colonoscopy, biopsy, and enhanced abdominal CTA, we diagnosed the patient with IMP. Notably, we identified a potential link between the patient's long-term intake of a traditional Chinese herb containing Gardenia Fructus and the development of IMP. This finding is supported by existing literature, which suggests that genipin, a component of Gardenia Fructus, may cause intimal hyperplasia and fibrosis of the venous wall, leading to chronic intestinal ischemia. Our case highlights the importance of considering herbal intake as a potential risk factor for IMP and underscores the need for clinicians to be aware of the potential adverse effects of traditional herbal remedies.

Cold snare polypectomy (CSP) is widely considered a safe treatment for colorectal polyps. We report a rare case of intraperitoneal hemorrhage followed by delayed perforation after CSP in a 78-year-old man undergoing hemodialysis. CSP was performed for an 8-mm slightly elevated lesion in the ascending colon, requiring forced CSP to complete resection. Four hours after the procedure, the patient developed abdominal pain, and contrast-enhanced computed tomography revealed an intramural hematoma with active bleeding. Transcatheter arterial embolization achieved hemostasis. Two days after colonoscopy, recurrent abdominal pain occurred during hemodialysis, and repeat imaging demonstrated free air. Emergent right hemicolectomy revealed bloody ascites and a perforation at the CSP site. The patient recovered uneventfully and was discharged on postoperative day 22. This case suggests that impaired hemostasis related to hemodialysis and concomitant antithrombotic therapy may predispose patients to intramural hematoma formation and delayed perforation. Mechanical compression from the expanding intramural hematoma may have caused structural failure at the forced CSP site, ultimately leading to perforation. In our exploratory in vivo porcine colon experiment, forced CSP generated traction that appeared to pull the muscularis propria and serosa into the endoscopic working channel, indicating the need for careful use of the technique and perioperative management. (200 words).

Gallbladder carcinoma (GBC) rarely presents as hemobilia or hemocholecyst. Intraluminal hemorrhage as the initial manifestation of gallbladder cancer is extremely uncommon, reported in nearly 1% of cases, with only a handful of cases described in the literature over the last three decades. A 54-year-old female presented with recurrent abdominal pain, melena, jaundice, and severe anemia requiring multiple blood transfusions. Repeated upper gastrointestinal endoscopies, colonoscopies, and contrast-enhanced computed tomography scans failed to identify the bleeding source initially. A subsequent upper gastrointestinal endoscopy demonstrated active blood ooze in the second part of the duodenum, raising suspicion of hemobilia. Further imaging revealed a gallbladder mass with common bile duct involvement. Exploratory surgery identified a gallbladder tumor with intraluminal blood clots extending into the common bile duct. The patient underwent radical cholecystectomy with liver wedge resection and en bloc excision of the common bile duct followed by Roux-en-Y hepaticojejunostomy. Histopathology confirmed grade 1 mucinous adenocarcinoma of the gallbladder (pT2a pN0). Postoperative recovery was uneventful, with no further episodes of gastrointestinal bleeding. This case highlights the diagnostic challenges of hemobilia in the absence of prior biliary intervention or trauma and emphasizes the importance of persistent evaluation and high clinical suspicion for early diagnosis of gallbladder malignancy presenting with obscure gastrointestinal bleeding.

Acute pancreatitis most commonly results from gallstone disease, alcohol use, metabolic abnormalities, or medication effects. Malignant infiltration of the pancreas is a rare cause of pancreatic inflammation and may present with symptoms indistinguishable from more typical forms of pancreatitis. Pancreatic involvement by lymphoma is particularly uncommon and may mimic pancreatic neoplasms or recurrent inflammatory pancreatic disease. We present the case of a 29-year-old woman with a recently diagnosed CD-20-positive B-cell lymphoma who developed recurrent severe abdominal pain and markedly elevated pancreatic enzymes shortly after hospitalization for acute pancreatitis. Imaging revealed bulky retroperitoneal lymphadenopathy, bilateral renal enlargement, biliary ductal dilatation, and findings suspicious for pancreatic head involvement. Histopathologic evaluation of a retroperitoneal lymph node biopsy confirmed CD20-positive B-cell lymphoma. The patient underwent placement of a chemotherapy port and initiation of rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP), with subsequent clinical improvement. This case highlights pancreatic infiltration by lymphoma as a rare cause of recurrent pancreatitis and underscores the importance of considering hematologic malignancy in patients presenting with atypical pancreatic inflammation or unexplained lymphadenopathy.

To compare the measurement properties of paediatric patient-reported outcome measures (P-PROMs) used in clinical trials and practice for common conditions. Data from the Australian Paediatric Multi-Instrument Comparison study were used, including children aged 5-18 years with autism spectrum disorder (ASD) (n=510), asthma (n=487), eating disorder(s) (n=216), epilepsy (n=298), recurrent abdominal pain (n=392), sleep problems (n=346), dental problems (n=490), type 1 diabetes (T1D) (n=67), enuresis (n=182) and no health conditions (reference group) (n=1259). The acceptability, response distribution (floor/ceiling effects), known-groups validity, test-retest reliability, responsiveness and convergent validity of the Paediatric Quality of Life Inventory (PedsQL), EuroQol Group's Youth instruments with three and five response options (EQ-5D-Y-3L and EQ-5D-Y-5L), Child Health Utility 9D (CHU9D), Assessment of Quality of Life 6D (AQoL-6D), Health Utilities Index Mark 3 and Patient-Reported Outcomes Measurement Information System Paediatric Profile 25 (PROMIS-25) were assessed. PedsQL, EQ-5D-Y-3L, EQ-5D-Y-5L, CHU9D and PROMIS-25 were easy and quick to complete, indicating acceptability. Only the EQ-5D-Y-3L and EQ-5D-Y-5L demonstrated ceiling effect issues. All measures were able to differentiate between children with no health conditions and children with each condition (p<0.001, effect sizes between 0.47 and 3.5), indicating known-groups validity. Test-retest reliability varied by condition; however, the PedsQL and EQ-5D-Y-5L were the most reliable. Certain P-PROMs may be preferred in different conditions, that is, ASD (PedsQL and EQ-5D-Y-5L), asthma (PedsQL), eating disorder(s) (PedsQL and CHU9D), epilepsy (PedsQL and CHU9D), recurrent abdominal pain (PedsQL, EQ-5D-Y-5L and CHU9D), sleep problems (PedsQL), dental problems (PedsQL), T1D (PedsQL and CHU9D) and enuresis (PedsQL). Notably, the PedsQL performed favourably in all conditions assessed. More evidence is required on the responsiveness of P-PROMs to changes in child health. ACTRN12621000657820.

BACKGROUNDFunctional abdominal pain syndrome (FAPS) is a subset of functional gastrointestinal disorder characterized by chronic recurrent abdominal pain condition that is not attributable to structural, organic, or metabolic diseases. The etiology and pathophysiology of FAPS remain poorly understood; however, brain-gut interactions and food intolerance, particularly to fermentable oligo-, di-, and monosaccharides and polyols, have been implicated.AIMTo determine the frequency of fructose malabsorption (FM) in patients with FAPS and to evaluate the occurrence of resultant symptoms.METHODSThis was a prospective, case-control study conducted over 22 months, from December 2016 to September 2018, at the Department of Gastroenterology, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research, New Delhi, India. In this study, 61 patients with FAPS and 31 healthy controls underwent fructose hydrogen breath testing (FHBT) after excluding small intestinal bacterial overgrowth.RESULTSFM was detected in 26% of patients with FAPS vs 3% of controls (P = 0.009). Symptoms during the FHBT were significantly more prevalent in patients with FAPS (39.3%) than in the controls (12.9%) (P = 0.009). Among patients with FAPS, those with positive FHBT results had a higher prevalence of symptoms (62.5%) than those with negative results (31%) (P = 0.03). Multivariate analysis identified younger age (P = 0.012) and male sex (P = 0.049) as predictive of a positive FHBT result. Methane producers were present in 37% of patients with FAPS, with no difference between those with and without FM.CONCLUSIONThis study demonstrated a high prevalence of FM and intolerance in patients with FAPS, with younger age and male sex as predictors.

Small intestinal bacterial overgrowth (SIBO) and irritable bowel syndrome (IBS) are common gastrointestinal disorders that significantly impact patients' quality of life and pose a financial burden on healthcare systems. SIBO is characterized by an abnormal increase in small intestinal bacteria, leading to symptoms such as malabsorption, diarrhea, bloating, and abdominal pain. IBS is a functional gastrointestinal disorder marked by recurrent abdominal pain with changes in bowel habits, and is subclassified into diarrhea-predominant IBS (IBS-D), constipation-predominant IBS (IBS-C), and mixed-type IBS. Notably, SIBO and IBS-particularly IBS-D-often present with overlapping symptoms. Antibiotics such as Metronidazole, Bismuth, and Rifaximin are commonly used to treat both conditions; however, their comparative efficacy and safety remain unclear. To analyze and compare the role of Metronidazole, Bismuth, Rifaximin for improvement of SIBO and IBS. A systematic review was performed on the databases PubMed and Cochrane Library, spanning from 2000 to 2023. Studies eligible for inclusion were observational studies or randomized controlled trials (RCTs) performed on human subjects that examined the use of Metronidazole, Bismuth, or Rifaximin in the management of SIBO and IBS. Two independent reviewers performed data extraction, and resolved discrepancies by consensus. The data extracted consisted study characteristics, patient demographics, intervention details, and outcome measured. Key references were verified and prioritized using Reference Citation Analysis to ensure contemporary relevance and citation impact. A total of 55 studies, including RCTs and observational studies, met inclusion criteria and were analyzed. These studies assessed the efficacy and safety of Metronidazole, Bismuth, and Rifaximin in patients with SIBO and IBS. Rifaximin demonstrated the most consistent efficacy across both conditions, particularly in IBS-D and mild to moderate SIBO, with a low incidence of adverse events (16.7%). Metronidazole showed moderate efficacy, with some benefit in IBS-C and mild SIBO, but was associated with a higher rate of gastrointestinal side effects (16.6%). Bismuth offered symptom relief in IBS, especially for bloating and diarrhea, though its effectiveness was generally lower than the other agents. Subgroup analyses suggested differential efficacy by IBS subtype and SIBO severity, supporting the potential role of clinical phenotype in guiding antibiotic selection. Significant clinical efficacy was shown by the drug Rifaximin among IBS-D patients at reducing symptoms, with minimal undesirable adverse effects and a favorable safety profile. Metronidazole was effective in treating SIBO but was generally associated with a higher prevalence of gastrointestinal side effects than the other drugs. However, Bismuth generally proved to be effective on isolated levels, especially in combination regimes where it showed its efficacy levels to be less pronounced relative to Rifaximin as well as Metronidazole. Further studies are needed to optimize treatment strategies and clarify the comparative long-term benefits and risks of these therapies.

Acute hepatic porphyria (AHP) is a heme metabolism disorder characterized by acute abdominal pain episodes, with diagnostic delays and misdiagnosis due to heterogeneous presentations and symptom overlap with other diseases. Timely diagnosis is crucial as untreated attacks can lead to life-threatening complications such as hepatocellular carcinoma, chronic kidney disease, neuropathy and chronic pain. AHP often mimics various conditions such as lead poisoning, Guillain-Barré syndrome, vasculitis and surgical abdominal conditions, leading to diagnostic challenges and inappropriate treatment. Familial Mediterranean fever (FMF), another disease with recurrent abdominal pain as its main feature, has a similar symptomatology to AHP. The aim of this study was to investigate the prevalence of AHP in patients with clinically suspected FMF without a confirmatory genotype using cross-sectional urinary porphobilinogen (PBG) screening during abdominal pain episodes. This cross-sectional study included a total of 104 patients under rheumatology follow-up for suspected FMF and two control groups (genetically confirmed FMF patients and healthy controls). Patients presenting with severe abdominal pain and had a spot urinary PBG/creatinine ratio of ≥ 10 µmol/mmol were diagnosed with AHP together with at least one clinical manifestation defined by the European Porphyria Network. Among 104 suspected-FMF patients, 5 (4.8%) were diagnosed with AHP, with a diagnostic delay of 16.4 ± 10.38 years. AHP patients frequently exhibited neurological (muscle weakness, paresthesia), psychiatric, and gastrointestinal (nausea, vomiting) symptoms. In likelihood ratio analyses, urinary incontinence, hypertension and neuropathic symptoms were strong discriminative indicators of AHP, whereas fever, arthritis, rash and chest pain were more indicative of FMF, aiding differential diagnosis. Due to diagnostic challenges and overlapping symptoms, AHP should be considered in the differential diagnosis of FMF, particularly in patients with neurological or systemic features. Urinary PBG screening and identifying predictive markers may improve diagnostic accuracy and early management of AHP.

Neuronal intranuclear inclusion disease (NIID) is a rare and progressive neurodegenerative disorder, distinguished by extreme clinical heterogeneity that frequently results in diagnostic delays. While gastrointestinal symptoms are common in NIID, the prolonged gastrointestinal-dominant prodrome—lasting years before neurological signs emerge—remains under-recognized in adult-onset cases. We report a 59-year-old female evaluated in the gastroenterology department for a four-year history of recurrent vomiting and abdominal pain. Comprehensive investigations, including endoscopy, abdominal CT scans, and laboratory studies, excluded significant structural or inflammatory pathology. She was admitted on March 30, 2024, for another episode of abdominal pain and vomiting. Over the disease course, her symptoms extended beyond the gastrointestinal tract to include cognitive decline, urinary retention, and two episodes of impaired consciousness. On April 2, 2024, she acutely developed stroke-like manifestations—somnolence, loss of speech, and left-sided hemiparesis—requiring urgent transfer to neurology. Brain MRI demonstrated cerebral atrophy, extensive confluent white matter hyperintensities with frontoparietal predominance, and characteristic linear DWI hyperintensities along the corticomedullary junction. Genetic testing ultimately confirmed neuronal intranuclear inclusion disease (NIID). This case underscores the fact that NIID may present with prominent gastrointestinal symptoms in its early stages. Therefore, NIID should be considered in the differential diagnosis for patients with chronic unexplained gastrointestinal complaints, particularly those with concurrent autonomic or subtle neurological dysfunction. A timely diagnosis requires comprehensive neurological assessments, characteristic MRI findings, and definitive genetic testing.