Rare Condition Research Articles

Risk of priapism after dynamic penile Doppler ultrasound: Single-centre experience on a large cohort of patients.

To evaluate the risk of priapism in patients undergoing Dynamic-Penile duplex ultrasound (D-PDU) who were referred to our Unit between January 2022 and December 2023. We enrolled 292 patients, of whom 268 underwent Dynamic-Penile duplex ultrasound for erectile dysfunction and 24 for Peyronie's disease. The mean age of the patients was 56±12 years, the mean alprostadil dose administered was 9.17±5.59 mcg and the mean erection response was 79.55±19.95%. To evaluate the occurrence of priapism, we considered i) patients who called our phone number within the first hours following the exam; ii) patients who were referred to our Emergency Department within the 24h following Dynamic-Penile duplex ultrasound; iii) patients who reported to us the occurrence of priapism at subsequent follow-up visit; iv) patients who e-mailed us to report this side effect. We found no cases of priapism (0/292 patients, 0%). Therefore, statistical analysis with correlation and regression analysis was not conducted. In our opinion, the risk of priapism following Dynamic-Penile duplex ultrasound with alprostadil injection might be re-evaluated, as it appears to be a rare and preventable condition.

Endovascular management of acute superior mesenteric vein thrombosis: a retrospective study on thrombolysis outcomes.

Acute superior mesenteric vein thrombosis (ASMVT) is a rare but life-threatening condition associated with high morbidity and mortality. While anticoagulation remains the standard treatment, endovascular therapies such as thrombolysis, thrombectomy, and angioplasty are increasingly utilized in selected cases. However, evidence on their outcomes remains limited. This study retrospectively reports the clinical outcomes of ASMVT patients treated with endovascular combination therapies. Between August 2019 and May 2024, 12 patients (males = 9; mean age, 52.33 ± 12.51years) were diagnosed with ASMVT. The study collected comprehensive data on demographic details, presenting symptoms, etiology, treatment modalities, response to treatment, and follow-up outcomes. Computed Tomography (CT) was available from diagnosis, and an average of 6.3 CT scans with a median follow-up of 3months (IQR: 2-20months). The average time from symptom onset to angiographic treatment initiation was 8.0 ± 4.71days, preceded by anticoagulation with heparin from the time of diagnosis. Patients were treated with combination therapy involving endovascular thrombolysis, rheolytic thrombectomy, and balloon angioplasty via transjugular (n = 9, 75%) or percutaneous (n = 3, 25%) approaches. Thrombolysis was performed with an average recombinant tissue plasminogen activator (rt-PA) infusion duration of 2.75 ± 1.14days and a total dose of 61.25 ± 18.48mg rt-PA. Superior mesenteric vein (SMV) flow was initially restored almost completely in 58.3% and partially in 41.7% of patients. Complications observed were hepatic artery bleeding (n = 2, 16.7%), hepatic arteriovenous fistula (n = 1, 8.3%), hepatic parenchymal bleeding (n = 1, 8.3%), melena (n = 1, 8.3%), and nostril bleeding (n = 1, 8.3%). Two patients experienced worsening symptoms of post-intervention, leading to bowel resection revealing intestinal necrosis. SMV patency was almost complete in 25%, and partially in 25% of patients at follow-up. Endovascular combination therapy with long-term thrombolysis and thrombectomy in patients with ASMVT demonstrated promising technical outcomes. In view of complications, individual indication for intervention needs to be confirmed in a multidisciplinary team.

Paediatric Cardiac Tumours: A National Population Study.

Paediatric cardiac tumours are rare. The most common tumour is a rhabdomyoma, a benign tumour of the myocardium associated with Tuberous Sclerosis Complex (TSC), a rare genetic condition caused by constitutional pathogenic variants in either the TSC1 or TSC2 genes. Although benign, complications related to obstructed flow through the heart or intractable arrhythmias occur. A 23-year retrospective study of patients referred to the National Scottish Paediatric Cardiology service with evidence of a cardiac tumour. 51 patients identified; 12 prenatally, 8 live born. Of the 47 patients born alive, 44 (93.6%) patients had a benign cardiac tumour and 3 (6.4%) a malignant tumour. Rhabdomyomas were shown to be the most common tumour type in patients with TSC (p = 0.000861) and overall. 8/44 (18%) benign tumours had a documented arrhythmia, 50% requiring treatment with beta blockade. 7 patients with rhabdomyomas received an mTOR inhibitor, 6 were recorded as TSC 2 genotype. There was significant extra cardiac symptom burden for the TSC subtypes (p = 0.00105), particularly TSC2, related to renal and neurological complications. The natural history of rhabdomyomas is slow regression and if no significant mass or rhythm disturbances in early childhood, a positive cardiovascular prognosis. Identifying cases associated with TSC is important to counsel families regarding the longer-term implications related to morbidity and mortality particularly in TSC2 associated cases, which typically have a more severe phenotype. Targeted medical therapy is indicated and shown to be effective for the treatment of benign cardiac tumours causing significant rhythm or mass effect. mTOR inhibitors should be considered in the treatment of rhabdomyomas and beta blockade for haemangiomas.

Rare Case of Homozygosity for CYB5R3 Variant c.235C > T p.(Arg79Trp) Causing Type II Methemoglobinemia.

Type II methemoglobinemia is a rare genetic condition in which deficiency of the enzyme NADH-cytochrome b5 reductase 3 encoded by the gene CYB5R3 causes neurological symptoms in addition to elevated blood methemoglobin levels. The clinical presentation of Type II methemoglobinemia extends beyond hematological symptoms and include developmental delays, intellectual disability, and severe neurological symptoms. Here we present a case of a young male of Turkish origin diagnosed with type II hereditary methemoglobinemia at age 28. The proband has congenital hearing loss and was diagnosed with infantile autism in adolescence. After several hospital admissions with dyspnea, low oxygen saturation, methemoglobin levels at 4-19%, and normal p50 of 27.0 mmHg, he was evaluated for congenital methemoglobinemia. Genetic testing using targeted next generation sequencing identified the rare pathogenic CYB5R3 c.235C > T p.(Arg79Trp) missense variant (NM_001171660.2, NP_001165131.1). Enzymatic testing of NADH-cytochrome b5 reductase 3 of the patient and the mother showed decreased activities of 0.6 U/g Hb and 6.7 U/g Hb, respectively, compared to a normal group with a mean of 12 U/g Hb (standard deviation 1.7 U/g Hb). The patient had hemoglobin levels within normal and osmotic gradient ektacytometry was performed and found normal. To our knowledge, this constitutes the first report of a CYB5R3 c.235C > T homozygous. This case report emphasizes the importance of considering rare genetic disorders in patients with unexplained neurological and auditory deficits. The patient consented to publication of this case story.

Median Arcuate Ligament Syndrome With Concomitant Hyperkinetic Gallbladder.

Median arcuate ligament syndrome (MALS) is a rare condition characterized by compression of the celiac artery and ganglia by the median arcuate ligament, leading to gastrointestinal symptoms such as chronic epigastric and postprandial pain. Hyperkinetic gallbladder dyskinesia (HGBD), defined as a gallbladder ejection fraction (GBEF) > 80%, often presents with symptoms that overlap with MALS. We conducted a retrospective chart review of patients who had a history of HGBD identified by GBEF and were surgically treated for MALS at our institution. Of the 69 patients undergoing MALS surgery, 6 had GBEF >80%. The cohort (mean age 31 ± 16.8; BMI 24.0 ± 5.6) was predominantly female (83.3%). Abdominal pain, exacerbated postprandially, was the primary symptom reported. All patients had multiple vascular compression syndromes and reported symptomatic improvement post-surgery. Given their overlapping presentations, patients with HGBD should undergo evaluation for MALS, as surgical release provides effective symptom relief.

Endocardial Dissection After MI: A Rare Complication with Diagnostic Complexity

Background: Endocardial dissection is an extremely rare and underrecognized complication of myocardial infarction (MI), involving the separation of the endocardial layer from the underlying myocardium. This condition is often misdiagnosed due to its overlap with other intracardiac abnormalities such as pseudoaneurysms, mural thrombi, or intramyocardial dissecting hematoma (IDH). Case Report: We present the case of a 67-year-old male smoker admitted with acute anterior myocardial infarction, characterized by chest pain and ST-segment elevation on electrocardiogram. He underwent successful thrombolysis followed by rescue angioplasty with stent placement in the proximal left anterior descending artery. Despite initial stabilization, the patient experienced progressive dyspnea and peripheral edema one month later. Laboratory tests revealed elevated biomarkers, and transthoracic echocardiography (TTE) identified a hypoechoic space measuring 60 × 55 mm in the left ventricle, consistent with an endocardial dissection and dissecting hematoma. Despite surgical recommendations, the patient was managed conservatively due to family preferences and was discharged after symptomatic improvement. Conclusion: This case highlights the diagnostic and therapeutic challenges associated with endocardial dissection, a rare post-MI complication. The use of TTE and other imaging modalities is crucial for accurate diagnosis, distinguishing it from other conditions with similar presentations. The lack of established treatment guidelines underscores the need for further case studies to better understand its pathophysiology, clinical course, and management options. Enhanced awareness and reporting are essential for improving outcomes in patients with this rare condition.

Spontaneous Nasal Septal Abscess: A Case Report

Spontaneous nasal septal abscess is a rare condition. It typically occurs following traumatic events preceded by septal hematoma. Prompt recognition and intervention are must to avoid further infective and cosmetic complications. Hence, it is considered as a rhinologic emergency. This is a case of 27 years female with complaints of nasal mass, swelling , pain and difficulty in breathing for 7 days. She was diagnosed as spontaneous nasoseptal abscess and surgical intervention made her symptoms free.

Investigation of Bleeding Disorders: When and How Should We Test Platelet Functions?

Inherited platelet disorders (IPDs) are rare conditions with diverse underlying pathophysiology which should be suspected in patients presenting with mucocutaneous bleeding or hemorrhages upon hemostatic challenges, in the presence or not of thrombocytopenia. Identifying IPDs is critical for providing appropriate care, preventing misdiagnosis, and avoiding unnecessary interventions, such as splenectomy. Syndromic IPDs, which may be associated with severe complications like kidney failure, infection, and malignancies, underscore the importance of accurate diagnosis and tailored management.Diagnosing IPDs remains challenging, requiring a comprehensive approach that integrates clinical assessment, evaluation of the bleeding history using standardized tools, like the ISTH-BAT, and first-line laboratory tests, such as light transmission aggregometry and flow cytometry. Second-line and specialized tests, including transmission electron microscopy, genetic analysis, and biochemical studies, may provide further insight in complex cases. Technological advancements, including multicolor flow cytometry and microfluidic tools, may in perspective improve IPD diagnostics by providing high-throughput and precise laboratory assays. In particular, mass cytometry and multi-omics may contribute to unraveling IPD pathophysiology, identifying novel markers, and refining disease classification. The application of artificial intelligence shows potential for improving diagnostic accuracy through the automated analysis of platelet morphology and function, from flow cytometry and digital microscopy assays, and for improving the understanding of pathogenic mechanisms of IPD through the examination of big data.This review summarizes current IPD platelet function testing strategies, emphasizing the need for a structured, tiered approach and examining emerging technologies and AI applications that could revolutionize diagnostic workflows, leading to personalized care and to an expanded understanding of IPDs.

Effects of Smoke on Surface Observations, Turbulence, and Proposed Subcritical Aerosol-Moisture Feedback (SAMF) During the 8 April 2024 Solar Eclipse in Columbus, GA, USA

Very rarely, the atmosphere produces a natural experiment that, if captured, has the potential to lend insight into the fundamentals of atmospheric behavior. During the North American solar eclipse on 8 April 2024, a prescribed fire on the grounds of Fort Benning produced a smoky haze in Columbus, Georgia, USA. This haze covered the Columbus State University main campus and the nearby Columbus Airport (KCSG) leading up to and during the peak of the eclipse. Automated Surface Observing Station (ASOS) and Georgia Weather Network observations were examined for the event. At the time of temperature minimum, the temperature depression at KCSG was 0.5 °C greater than at nearby ASOS stations. An “eclipse wind” was observed at KCSG but not at the nearby ASOS stations. Based on observations of steady-state air and dewpoint temperatures, together with rapid fluctuations in visibility, we propose the Subcritical Aerosol-Moisture Feedback (SAMF) mechanism, in which subtle feedbacks among particle growth, relative humidity, and scattering of radiation by aerosol-laden air may maintain steady-state thermodynamic conditions. This case study offers a unique opportunity to examine aerosol behavior under transient radiative forcing, suggesting insights into how a smoky environment enhances thermal buffering and stabilizes the boundary-layer response under rare conditions.

Inadequate ventilation in a patient with tracheal stenosis due to previous intubation

Patients with chronic obstructive pulmonary disease often visit the emergency department due to exacerbation of their disease condition or the development of pneumonia. Tracheal stenosis is a rare but fatal condition if not diagnosed and treated promptly. We report the successful diagnosis and management of tracheal stenosis in a patient with a history of intubation three months prior to her index presentation.

Clinical manifestation and management in a resource-limited setting of Ballantyne syndrome (Mirror syndrome) associated with preeclampsia, a case report

Introduction and importance: Ballantyne syndrome, also known as triple edema or maternal mirror syndrome, is an extremely rare clinical condition characterized by maternal edema, placentomegaly, and fetal hydrops. Its rarity and overlapping symptoms often lead to misdiagnosis, particularly in resource-limited settings. Management is primarily etiological and focuses on addressing the underlying cause. This case highlights the challenges encountered in managing Ballantyne syndrome associated with preeclampsia in a resource-limited setting. Case presentation: A 21-year-old woman, blood group AB Rh-positive, was hospitalized at 24 weeks of gestation with generalized edema and absent fetal movements. She had limited antenatal care, with only one prenatal visit and two ultrasounds, both showing placentomegaly that obscured optimal visualization of fetal structures. Clinical assessment confirmed severe preeclampsia complicated by fetal-maternal hydrops. Given the maternal risks and the poor fetal prognosis, pregnancy termination was performed. Induction of labor resulted in the delivery of a hydropic fetus, who succumbed shortly after birth. The patient recovered without complications following symptomatic management of preeclampsia. Clinical discussion: Ballantyne syndrome, although rare, poses a significant maternal risk and requires prompt recognition and intervention. In this case, severe preeclampsia and fetal hydrops contributed to the worsening maternal condition, necessitating urgent pregnancy termination to prevent further complications. The patient’s limited access to antenatal care may have delayed diagnosis, underscoring the importance of early screening and multidisciplinary management in high-risk pregnancies. Conclusion: This case highlights the critical need for early diagnosis and timely intervention in managing Ballantyne syndrome and preeclampsia, particularly in resource-limited settings. Strengthening antenatal care, comprehensive patient counseling, and evidence-based management is essential to improving maternal and perinatal outcomes in such complex cases.

Management of patients with posterior urethral valves “from the fetus to adolescence”: French national diagnostic and care protocol (NDCP)

Posterior urethral valves (PUV) are congenital anomalies characterized by the persistence of mucosal folds in the urethra, leading to various degrees of obstruction. They are the most common cause of lower urinary tract obstruction in fetuses and children, with a severe prognosis, as one-third of affected children develop end-stage renal disease before adulthood. The French National Diagnostic and Care Protocol (NDCP) aim to provide healthcare professionals with guidelines for the optimal diagnostic and therapeutic management of PUV from the fetal stage to adolescence. The guidelines emphasize early diagnosis through prenatal ultrasound and the importance of a multidisciplinary approach involving pediatric urologists, nephrologists, and other specialists. It outlines prenatal interventions such as vesico-amniotic shunting and postnatal surgical options like endoscopic valve ablation to alleviate obstruction and preserve renal function. Long-term follow-up is crucial for monitoring renal function, managing bladder dysfunction, and preventing complications such as urinary tract infections and chronic kidney disease. The guidelines also identify off-label pharmaceuticals and necessary specialty products not typically covered by insurance. By standardizing care pathways and promoting consistent, high-quality care, the guidelines aim to improve the prognosis and quality of life for children with PUV, setting a benchmark for managing this rare condition in pediatric urology.

Refractory chyluria warranting surgical managementa case report

Introduction: Chyluria is a rare condition characterized by milky urine usually occurring due to rupture of lymphatic channels into the urinary system. Common symptoms include milky urine, clot colic, urinary retention, weight loss, edema, etc. Diagnosis is based on clinical suspicion, laboratory tests and imaging techniques such as USG, CT, MRI, and lymphangioscintigraphy. Management is based on dietary modifications, pharmacological treatment, minimally invasive endoscopic sclerotherapy, and laparoscopic chylolymphatic disconnection. Other procedures such as lymphovenous anastomosis or simple nephrectomy can also be adapted. Case description: A 33-year-old female from a filariasis endemic region of Nepal presented with chief complaints of whitish urine for 15 months associated with weight loss. The patient was initially treated with diethylcarbamazine (DEC) for 21 days, a year ago with some dietary modifications. She also underwent two episodes of endoscopic sclerosant instillations. The immunochromatographic test for filariasis was positive. Milky efflux was seen from the left ureteric orifice. Retrograde pyelography showed lymphatic backflow. The patient was managed with laparoscopic left chylolymphatic disconnection (Hilar stripping and nephron lympholysis), and the symptoms resolved. Discussion: Refractory cases of chyluria require surgical intervention to prevent long-term morbidity. Traditional open surgical ligation and excision of renal pedicle lymphatics are replaced by the minimally invasive approach of retroperitoneoscopy. The laparoscopic method is a preferred treatment as it has minimal incision-related morbidity and is safe, effective, and efficient. Other surgical options include lymphovenous anastomosis or renal autotransplantation. Conclusion: This case highlights the success of surgical intervention in treating refractory chyluria. Chylolymphatic disconnection could be safely performed with a laparoscopic approach without significant complications and reoccurrence.

A Challenging Case of Thyrotoxicosis and Thyroid Abscess due to Acute Suppurative Thyroiditis.

Acute suppurative thyroiditis is a rare but serious condition that can progress to a thyroid abscess, requiring emergency surgical intervention. It is typically caused by Gram-positive bacteria like Staphylococcus or Streptococcus, with mycobacteria or fungi seen in immunocompromised patients.We report a case of a 46-year-old female who presented with neck pain, swelling, palpitations, and malaise. Initial diagnosis was a viral infection, but imaging at our facility revealed a 6 × 5.5cm abscess in the right thyroid lobe, causing tracheal compression. Labs showed thyrotoxicosis, leukocytosis, and anemia. She was started on β-blockers, PTU, IV steroids, antibiotics, and given a blood transfusion on admission. Her condition worsened, and she underwent neck exploration with drainage of the abscess, revealing E. coli. After treatment, she recovered and was discharged with antibiotics and antithyroid medications. This case emphasizes the importance of early detection and timely surgical intervention of acute suppurative thyroiditis.

Time since last intravenous bisphosphonate and risk of osteonecrosis of the jaw in osteoporotic patients

Medication-related osteonecrosis of the jaw is a rare but serious condition in which the jawbone fails to heal and becomes necrotic, typically after dental surgery in patients treated with bisphosphonates. However, clear evidence guiding how long bisphosphonate treatment should be paused before dental surgery remains limited. Here we show that a longer time since the last dose of intravenous bisphosphonate is associated with a reduced risk of jawbone necrosis. Using a nationwide retrospective cohort of 152,299 older adults diagnosed with osteoporosis, we analyze the relationship between the duration of bisphosphonate discontinuation prior to dental extraction and the occurrence of osteonecrosis of the jaw. We find that the risk is substantially lower when treatment is paused for more than 90 days, and lowest when the pause exceeds one year. The risk reduction appears more consistent with ibandronate, whereas with zoledronate, only pauses longer than one year show a meaningful association. These findings underscore the potential value of personalized prevention strategies based on bisphosphonate type.

Hemophagocytic syndrome secondary to dengue: a serious complication in vulnerable patients

Introduction: Hemophagocytic syndrome (HPS) was identified as a rare immunological condition characterized by a dysregulated activation of the immune system, which caused severe systemic inflammation and multiple organ failure. It presented in primary forms, of genetic origin, and secondary forms, associated with infections, neoplasms and autoimmune diseases. In particular, the dengue virus was recognized as a relevant trigger of HS, especially in pediatric populations in endemic regions, where its early diagnosis represented a great clinical challenge.Development: The work addressed the pathophysiology of HS, in which an exaggerated activation of macrophages and cytotoxic T lymphocytes was described, together with a hypersecretion of pro-inflammatory cytokines. This uncontrolled immune reaction generated manifestations such as persistent fever, pancytopenia, hepatosplenomegaly and hyperferritinemia. The diagnosis was based on clinical and laboratory criteria established by the Histiocyte Society, with the identification of hemophagocytosis in bone marrow or other tissues being essential. Treatment strategies included intensive life support, the use of corticosteroids, intravenous immunoglobulins and, in severe cases, immunosuppressants, with special attention to the associated risks in patients with dengue.Conclusions: It was concluded that HS secondary to dengue represented a serious and little recognized complication, whose timely diagnosis was essential to improve the prognosis. The study highlighted the importance of strengthening clinical surveillance, updating management protocols and training health personnel to effectively deal with this condition in contexts of high dengue prevalence.

Delirious Hyperactivity and Agitation in a Young Male Unveiling an Intriguing Underlying Diagnosis: Case Report

Introduction: Altered mental status presentations are commonplace in the emergency department (ED), but not all are due to psychiatric etiologies, even if the patient has had a previous psychiatric diagnosis. It is critical to evaluate for organic causes of a patient’s altered presentation. This case highlights the necessity of a broad workup to correctly diagnose an altered patient. Case Report: A 23-year-old Haitian male with a past medical history of bipolar 1 disorder, seizure disorder, and developmental delay presented to a critical access ED for altered mental status. The patient was given 300 milligrams of ketamine for delirious hyperactivity and agitation by emergency medical services in the field. On physical examination, the patient was in acute respiratory distress, hypoxic, not tolerating secretions, tachycardic, lethargic, and was subsequently intubated for airway protection. Computed tomography (CT) of the brain without contrast was obtained and revealed findings consistent with Fahr disease. Conclusion: Fahr disease is a rare neurodegenerative condition that causes accumulation of calcium deposits in the basal ganglia as demonstrated on CT. Phenotypes can be variable, includingsymptoms such as parkinsonism, chorea, dystonia, cognitive impairment, and ataxia. This case illustrates the importance of a broad differential diagnosis and emergent medical interventions for emergency physicians practicing in critical access facilities.

Female urethral stricture disease: a narrative review on diagnosis, surgical techniques and outcomes.

Female urethral stricture (FUS) disease is a rare condition occurring in 4-20% of women with refractory LUTS due to bladder outflow obstruction (BOO). Due to the rarity of this condition, standardization of definition as well as diagnostic criteria and treatment outcomes are lacking. A non-systematic review was conducted exploring the available literature on PubMed and EMBASE databases to identify publications related to the management of FUS between January 2019 and June 2024. Overall, 22 studies were identified. Diagnostic work-up appeared heterogeneous among authors: uroflowmetry (UFM), post-voiding residual of urine (PVR), (video-) urodynamic study (UDS), voiding cystourethrogram (VCUG), urethral calibrations (UC) and urethrocystoscopy (UCS) are the mostly employed tests. Primary treatment consists of urethral dilatation (UD) or urethrotomy. A variety of different reconstructive techniques are currently available such as meatoplasty, flap urethroplasty and graft urethroplasty. Outcome measures varied widely among authors. Patient-reported outcomes (PROMs) were assessed, with a focus on sexual function (FSFI), symptoms and QoL (AUA-ss, IPSS, PGI-I, ICIQ-FLUTS, ICIQ-FLUTSsex, ICIQ-S, UDI, SF-36), demonstrating general improvement. Success rates reported in literature appear to fairly agree amongst authors, but the variability of outcome measures reduces the significance of comparisons between studies. Efforts should be put into pursuing a homogeneity of definitions and criteria. PROMs are promisingly being employed in post-surgical evaluation and should be integrated into standardized follow-up protocols.

THE CURIOUS CASE OF THE BONY PENIS

THE CURIOUS CASE OF THE BONY PENIS

Transition Care for Young Persons with Rare Bone Mineral Conditions: A Consensus Recommendation from the ECTS Rare Bone Disease Action Group

Transition care (TC) is crucial for young persons with rare bone and mineral conditions (RBMCs) as they move from pediatric to adult healthcare. Effective TC prevents care disruptions and supports medical and psychosocial needs. However, gaps in communication, a shortage of adult RBMC specialists, and challenges in navigating adult healthcare necessitate standardized care. This study aimed to develop consensus-based recommendations for TC in RBMCs, focusing on best practices for seamless transition and patient empowerment. A two-round Delphi survey (September 2023–April 2024) was conducted among European RBMC experts, including 3 pediatric and 8 adult clinicians and 3 patient representatives from the European Calcified Tissue Society (ECTS). The panel formulated and refined statements through literature review and iterative scoring. Statements reaching ≥ 70% consensus were retained. A total of 81 statements were finalized across seven domains: initiation and planning, TC requirements, patient empowerment, organization and communication, service infrastructure and funding, and clinical care. Consensus was achieved on 64 out of 81 statements, with strong agreement on general and RBMC-specific recommendations. Key priorities included structured coordination among healthcare providers and a patient-centered approach that fosters self-advocacy and self-management. This Delphi consensus provides a structured framework for TC in young persons with RBMCs, emphasizing multidisciplinary care and patient empowerment. Future studies should assess the feasibility and impact of these guidelines across diverse healthcare systems.