Rare Malformation Research Articles

Congenital Lobar Emphysema at Right Upper Lobe: Case Report

Emphysema is a disease of a lung condition due to airway and or alveolar abnormalities usually a chronic progressive lung disease caused by significant exposure to noxious particles or gasses that causes shortness of breath, but Congenital Lobar Emphysema is a rare malformation developmental of a lung, especially at right upper lobe of the lung, and it can cause severe respiratory distress in the newborn baby. Herein, we aimed to report our case of Congenital Lobar Emphysema

Transarterial embolization of petrosal dural arteriovenous fistula (dAVF): Feasible and successful in the post-Onyx era

Background: Intracranial dural arteriovenous fistula (dAVF) is a rare arteriovenous malformation with potentially severe complications. This study investigates the efficacy and safety of transarterial embolization (TAE) in treating petrous dAVFs through a retrospective analysis and literature review. Case Description: A retrospective analysis of six patients with petrous dAVFs treated with TAE was conducted, accompanied by a systematic literature review to evaluate treatment outcomes. Data collection included patient characteristics, clinical presentation, Borden–Shucart and Cognard classifications, treatment specifics, and overall outcomes. TAE, particularly utilizing Onyx, demonstrated favorable outcomes in our six patients. Regarding literature review results, 102 articles were identified through PubMed Mesh tool search, but only five were included after careful evaluation. In addition, one article was manually added after searching for the remaining articles. Combining our six cases with literature findings, 79.8% (n = 75) of patients undergoing TAE achieved a cure with the technique, though Onyx was reported in only 13.9% (n = 13) of TAE cases. Complications were observed in 11.7% (n = 11) of TAE cases. Conclusion: Our presented cases and literature review suggest that the TAE of dAVFs is feasible and curative for selected cases of petrous dAVFs. However, the complexity of these lesions and the availability of other treatment modalities should be taken into consideration to optimize cure rates and patient outcomes.

Rupture of an Aneurysmal Pulmonary Sequestration Artery.

Pulmonary sequestration (PS) is a rare lung malformation seldomly accompanied by aneurysmal deformation of its arterial vasculature. This is a first report of aneurysmal PS presenting with acute aneurysmal rupture. The ruptured aneurysm was treated uneventfully by emergency endovascular coiling, and thoracoscopic hemothorax drainage.

Bridging the gap between neuroimaging and neurosurgery: a case of epidural arteriovenous fistula with an intradural presentation. Illustrative case.

Epidural arteriovenous fistulas (eAVFs) are rare vascular malformations often mistaken for their intradural counterparts due to similar angiographic features. Differentiation between epidural and intradural vascular lesions is crucial as it impacts surgical planning and prognosis. Despite advancements in diagnostic imaging, these entities can be misinterpreted and challenge management. The authors report the case of a 68-year-old male suspected to have a type I dural arteriovenous fistula based on magnetic resonance angiography and angiographic evaluation. He presented with progressive myelopathy and multiple neurological symptoms exacerbated by recent trauma. A superselective angiogram of the right T10 segmental artery suggested an intradural arteriovenous fistula; however, intraoperatively, the lesion was epidural. The arterialized venous structures were obliterated, and the patient reported significant postoperative symptomatic improvement. This case highlights the critical importance of comprehensive imaging and cautious interpretation in the diagnosis of spinal vascular malformations. It also underscores the need for a multidisciplinary approach to ensure accurate diagnosis and effective treatment. Surgeons must be prepared for intraoperative findings that diverge from preoperative imaging to adapt surgical strategies accordingly. Furthermore, this case contributes to the evolving understanding of eAVFs, suggesting that revised imaging protocols may be required to better distinguish epidural from intradural vascular abnormalities. https://thejns.org/doi/10.3171/CASE24331.

Unusual Presentation of Confusion: Hyperammonaemic Hepatic Encephalopathy Due To Intrahepatic Portosystemic Venous Shunt In An Older Patient

Abstract Background Delirium is an acute, usually reversible neuropsychiatric syndrome and often presents as confusion, especially in the older population. Early detection and management of causes is vital to reduce mortality, morbidity, and long-term cognitive status decline. Intrahepatic portosystemic venous shunts are rare vascular malformations. These malformations can be congenital or acquired and may manifest as heart failure, hepatic encephalopathy, or pulmonary hypertension. Methods A 75-year-old man presented to the emergency department with a 5-week history of confusion, daytime somnolence, and fatigue. His physical examination was unremarkable. His symptoms were initially thought to be due to sub-optimally controlled Obstructive Sleep Apnoea. Nevertheless, his confusion progressed further during admission and required admission to the intensive care unit and intubation. Investigations initially showed deranged Liver function tests. Extensive investigations were done, including CT brain, MRI brain, septic screen, Arterial blood gas, and Lumbar puncture, which were all inconclusive. An Electroencephalogram was suggestive of Encephalopathy. His Ammonia level was high (123). Further investigations, Triphasic CT liver, revealed Intrahepatic portosystemic venous shunt and was diagnosed with hyperammonaemic hepatic encephalopathy due to Intrahepatic portosystemic venous shunt. Results Management included the commencement of lactulose, rifaximin, and L-ornithine L-aspartate (LOLA). An IR-guided embolisation of the porto-venous shunt was performed. At two-months review, the patient reported no further episodes of confusion. Conclusion Intrahepatic portosystemic venous shunts should be considered in the differential diagnosis of patients presenting with confusion or other unexplained neurological symptoms, especially in the presence of liver dysfunction. Early diagnosis and appropriate management are crucial for favourable outcomes.

Pulmonary Sequestration: A Monocentric Case Series Report

Purpose: Pulmonary sequestration is a rare pulmonary malformation that often necessitates surgical intervention due to potential complications such as recurrent infections or hemoptysis. This case series presents the clinical trajectory of four patients diagnosed with pulmonary sequestration, from initial diagnosis through postoperative care, with a specific focus on the limited arterial supply in two of the cases. Materials and Methods: We conducted a retrospective descriptive analysis of four patients diagnosed with pulmonary sequestration who underwent surgical treatment at our institution between January 2013 and November 2022. The affected lung segments were excised via either thoracoscopy or thoracotomy. We evaluated perioperative and postoperative complications, hospital stay duration, histological findings, and the vascular supply of the affected areas. Results: Thoracoscopic surgery was initially preferred for all patients, though one required conversion to an open procedure due to technical challenges. Perioperative complications included increased pain and atelectasis. Two patients developed pleural empyema postoperatively, necessitating additional surgical intervention. The overall outcomes were favorable, with appropriate management addressing the complications effectively. Conclusions: Pulmonary sequestration, despite its rarity, often requires surgical treatment. Both thoracoscopic and open surgical methods are effective, though thoracoscopic surgery is generally preferred when feasible. The findings underscore the importance of meticulous preoperative planning and vigilant postoperative care to manage and mitigate potential complications.

Management of Nasal Polyposis in Pediatric Patients With Cornelia de Lange Syndrome: A Case Series and Literature Review.

Cornelia de Lange syndrome (CdLS) is a rare genetic multiple malformation disorder with many otolaryngologic comorbidities. Patients with CdLS appear to have an increased prevalence of chronic rhinosinusitis (CRS) and chronic rhinosinusitis with nasal polyposis (CRSwNP), however, there is limited literature describing the presentation, evaluation, and management of CRSwNP within the CdLS population. Here we performed a literature review from Embase, PubMed, Cochrane Library, and Google Scholar and reported a case of CRSwNP with concomitant CdLS that was identified at our institution. We describe an 8-year-old male with CdLS and CRSwNP confirmed by history, physical exam, nasal endoscopy, and computed tomography. Symptoms of nasal obstruction were refractory to medical management and required repeat surgical management with improvement in nasal obstruction. Literature review identified 2 additional cases of nasal polyposis with similar management strategies. Additionally, one case series showed 33% of CdLS patients had recurrent sinusitis while a second series identified 39% of CdLS patients with CRS and 12% with CRSwNP. These data suggest that CRSwNP is more prevalent in patients with CdLS compared to the general public and can be both safely and effectively managed with a combination of medical and surgical therapy.

Presentation and management of cerebral proliferative angiopathy: a systematic review and meta-analysis on treatment outcomes.

Cerebral Proliferative Angiopathy (CPA) is a rare brain vascular malformation, similar to Arteriovenous Malformations (AVM) but lacking of early venous drainage. Presentation and treatment outcomes were investigated, examining for morbidity, mortality and complications. A meta-analysis was conducted according to PRISMA guidelines. PubMed, Embase and Web Of Science were searched with keywords such as "cerebral proliferative angiopathy" and "management". We pooled and meta-analyzed outcomes on documented CPA cases. 11,079 studies were pooled as a result of manual citation searching, 50 studies were included, adding up to 115 CPA cases. The majority of patients were females (1.38:1), with a mean age of presentation of 26.9 (19.4) years. Headache (46%) and seizures (34%) were the most common presenting symptoms. 37% of patients presented with focal neurologic deficit. Patients managed conservatively from the surgical standpoint (i.e. nonoperative management) did not undergo homogenous treatment strategies, and major complications were at 47% (95% CI: 17%, 76%), with a 1% mortality (95% CI: 0%, 6%). Surgical and embolization interventions presented the highest proportion of major complications, 66% (95% CI: 33%, 99%) and 73% (95% CI: 42%, 100%), respectively. The embolization subgroup led in mortality, with 3% (95% CI: 0%, 10%). No death was documented in patients undergoing surgery. CPA has a similar presentation to brain arteriovenous malformations, but its treatment outcomes are potentially worse. This difference is not attributable to heterogeneity in assigning patient treatment strategies. This highlights the need for more accurate diagnostic methods.

Diagnosis of rare tubular duplication small bowel malformation in adult woman by enteroscopy

Diagnosis of rare tubular duplication small bowel malformation in adult woman by enteroscopy

“One-stop” interventional therapy for quadricuspid aortic valve combined with severe coronary artery disease: a case report

Congenital Quadricuspid Aortic Valve (QAV) malformation is a relatively rare cardiac valve malformation, especially with abnormal coronary opening and severe stenosis of Coronary Artery Disease (CAD). The patient underwent “one-stop” interventional treatment with transcatheter aortic valve replacement and percutaneous coronary stent implantation. Follow up for 12-month with good outcomes.

Cystic lymphangiomas of the cecal cause intussusception in adults

Lymphangiomas are rare benign lymphatic malformations. Even though these neoplasms can arise from any location and age, most of them are dominant in the head and neck of children. On the other hand, lymphangiomas are exceedingly rare in adults, especially in the gastrointestinal tract. Gastrointestinal tract lymphangiomas account for only about 1% of lymphatic malformations. Although there have been increasing cases of gastrointestinal lymphangiomas reported in recent years, cecal lymphangiomas causing intussusception in adults are rarely mentioned. In this article, we report a 27-year-old female patient with cecal lymphangiomas detected by imaging modalities and confirmed via postoperative histopathological examination.

Ruptured coronary sinus aneurysm in pregnancy combined with cardiogenic shock and elevated V1 and aVR ST segments: Case report.

Sinus of Valsalva aneurysm (SOVA), a rare cardiac malformation, is usually congenital and rarely acquired and most commonly occurring in the right coronary sinus. The clinical presentation of patients with SOVA varies. It is usually asymptomatic when it has not ruptured, and when it compresses neighboring structures or ruptures, it can lead to heart failure or shock, at which point urgent surgical intervention is usually required. Rupture of the sinus of Valsalva aneurysm (RSOVA) during pregnancy is really hard to come by, especially if the clinical presentations resemble that of an acute myocardial infarction. This report describes a pregnant woman with severe chest pain and hypotension with aVR and V1 ST-segment elevation due to RSOVA. Effects of RSOVA on the fetus, disease survival, and prognosis. RSOVA. Open SOVA repair. The patient's blood pressure returned to normal range and clinical symptoms disappeared after the surgery. After 3 months of follow-up, the patient was hemodynamically stable without chest discomfort, and an echocardiogram showed a normal aortic sinus. Progressive aneurysm dilatation or rupture has a poor prognosis. A thorough history and physical examination are fundamental, with echocardiography being the initial diagnostic tool of choice, and other ancillary tests (e.g., computed tomography) being used to complement and confirm the diagnosis. Surgery remains the current treatment of choice for patients with RSOVA, while the continuation of pregnancy in pregnant patients with RSOVA remains a case-by-case measure.

342. BILATERAL THORACOSCOPIC APPROACH FOR ADVANCED ESOPHAGEAL CANCER COMPLICATED WITH DOUBLE AORTIC ARCH (DAA)

Abstract Background Double aortic arch (DAA) is a relatively rare vascular malformation that causes few problems in adults. However, the presence of DAA makes esophageal cancer surgery difficult, especially during upper mediastinal dissection. Here we report a bilateral thoracoscopic surgical technique in a patient with highly advanced esophageal cancer complicated with DAA. Case 73-year-old male, cT3N4M0 stage III (UICC-TNM 7th) mid-thoracic esophageal cancer with DAA was diagnosed. After two courses of neoadjuvant chemotherapy, surgical treatment was planned. To develop a surgical strategy for esophagectomy for this complex malformation, we created a 3D printer model of the case. The results suggested that a bilateral thoracoscopic approach in the prone position was the ideal approach for upper mediastinal dissection. As expected, it was difficult to dissect the upper mediastinum using only a right-sided approach, especially on the esophagus oral side behind the right aortic arch (RAA), where dissection from the right side was impossible. By adding a left lateral approach, the oral side of the esophagus was pulled in from the left aortic arch (LAA) and was easily dissected. The operation was successful and the postoperative course was uneventful. In this presentation, we will demonstrate the technique of bilateral approach for advanced esophageal cancer complicated with DAA. Discussion The surgical strategy for patients with thoracic esophageal cancer and a coexisting complex vascular anomaly known as a double aortic arch (DAA) is a highlight. Typically, surgical approaches have been limited to either left or right thoracic access. However, through preoperative simulation using 3D printing, a bilateral approach was deemed safe and effective for these cases. The 3D printer models provided invaluable insights into the anatomical relationships of blood vessels, trachea, and heart, allowing for precise planning and execution of the surgery. Challenges such as the proximity of the descending aorta to the trachea and the optimal approach angle were successfully addressed through simulation, enhancing surgical outcomes. Furthermore, the bilateral thoracoscopic approach demonstrated potential benefits in preserving delicate structures like the recurrent laryngeal nerve. This innovative use of 3D printing technology in preoperative planning represents a significant advancement in the field of gastrointestinal surgery, offering improved safety and precision for patients with complex anatomical variations like DAA. Conclusions 3D printer is useful for simulating thoracoscopic esophagectomy with macrovascular malformations. Bilateral approach is appropriate for surgery of esophageal cancer complicated with DAA and a 3D printer is a useful tool for simulating esophageal surgery.

Can Segmental Branch Embolization of the Left Gastric Artery Be an Alternative in the Treatment of Recurrent Dieulafoy Lesion Bleeding? A Case report

Dieulafoy lesions, rare developmental vascular malformations within the gastrointestinal system, present a diagnostic challenge due to their inconspicuous nature. These lesions, primarily located near the esophagogastric junction, can lead to life-threatening bleeding. Although accounting for approximately 1.5-2% of upper gastrointestinal bleeding cases, the exact prevalence remains uncertain. Commonly diagnosed through esophagogastroduodenoscopy, the small size of these lesions often results in oversight during initial endoscopy, necessitating a high index of suspicion, especially in cases of recurrent bleeding. While endoscopic methods are the standard treatment, this case presentation introduces the use of embolization as a rare but effective modality in managing recurrent Dieulafoy lesion bleeding. The presented case underscores the importance of diverse treatment approaches and contributes valuable insights to the medical literature, enhancing the understanding and management of this infrequent yet potentially serious condition.

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.

Lissencephaly is a rare brain malformation characterized by abnormal neuronal migration during cortical development. In this study, we performed a comprehensive genetic analysis using next-generation sequencing in 12 unsolved Japanese lissencephaly patients, in whom PAFAH1B1, DCX, TUBA1A, and ARX variants were excluded using the Sanger method. Exome sequencing (ES) was conducted on these 12 patients, identifying pathogenic variants in CEP85L, DYNC1H1, LAMC3, and DCX in four patients. Next, we performed genome sequencing (GS) on eight unsolved patients, and structural variants in PAFAH1B1, including an inversion and microdeletions involving several exons, were detected in three patients. Notably, these microdeletions in PAFAH1B1 could not to be detected by copy number variation (CNV) detection tools based on the depth of coverage methods using ES data. The density of repeat sequences, including Alu sequences or segmental duplications, which increase the susceptibility to structural variations, is very high in some lissencephaly spectrum genes (PAFAH1B1, TUBA1A, DYNC1H1). These missing CNVs were due to the limitations of detecting repeat sequences in ES-based CNV detection tools. Our study suggests that a combined approach integrating ES with GS can contribute to a higher diagnostic yield and a better understanding of the genetic landscape of the lissencephaly spectrum.

Successful percutaneous coronary intervention in a congenital single right coronary artery with acute myocardial infarction: A case report and literature review.

Single coronary artery (SCA) is a rare coronary artery malformation. SCA combined with atherosclerotic plaques can cause severe and widespread myocardial ischemia and infarction, leading to hemodynamic instability and even sudden death. A 48-year-old Chinese man was admitted for treatment of persistent chest tightness and panic for 5 hours. The patient was a lorry driver with high work intensity and mental stress, with body mass index of 33.78, history of smoking and alcohol consumption, but no history of hypertension and diabetes. Admission examination showed Troponin was 183.083 µg/L and CK-MB value was >300 µg/L. The patient was diagnosed with a congenital single right coronary artery (RCA) with acute myocardial infarction (AMI) by coronary angiography (CAG). Due to atherosclerotic plaques rupture, a complete occlusion of the proximal RCA with thrombolysis in myocardial infarction grade 0 of distal blood flow were found. The patient was treated with thrombus aspiration and thrombolytic therapy by percutaneous coronary intervention under the support of intra-aortic balloon pump. Postoperative the chest tightness and panic were relieved, and CAG revealed that the proximal thrombus of the RCA was reduced, and distal blood flow was restored to thrombolysis in myocardial infarction grade 3. After 2 weeks of intensive antithrombotic and lipid-regulating drug therapy, the patient was successfully discharged. Follow-up for 6 months, the patient was able to live and work normally without experiencing chest tightness and chest pain. Computed tomography angiography (CTA) confirmed a congenital single RCA with patent lumen and no severe stenosis. The congenital single RCA is very rare, and it is fatal in conjunction with acute coronary syndrome. Early detection and appropriate treatment is critical for AMI patient with single RCA. CAG is the gold standard for diagnosis of single RCA, and CTA is a necessary to describe the anatomical course of abnormal coronary arteries.

Fenestration of the Vertebral Artery (FVA) is a Rare Cerebrovascular Malformation of the Vertebral Artery (VA).

Fenestration of the Vertebral Artery (FVA) is a Rare Cerebrovascular Malformation of the Vertebral Artery (VA).

Dysmorphic Uterus: More Questions than Answers.

A T-shaped uterus is a rare uterine malformation that is classically associated with diethylstilbesterol (DES) exposure. Surprisingly, the prevalence of T- and Y-shaped uterus has increased in recent years despite the absence of a diagnostic consensus and a correlation with the reproductive outcomes has been observed. A systematic electronic database search for all English-language studies published on reproductive outcomes associated with dysmorphic uteri over the past 10 years using PubMed, Google Scholar, and Scopus was performed. This uterine malformation is associated with impaired reproductive outcomes, including primary infertility, miscarriage, ectopic pregnancy, and preterm birth. Hysteroscopic metroplasty is a simple surgical procedure that could potentially improve outcomes in subfertile women, but the data are not robust. Studies reported significant improvements in implantation and pregnancy rates after corrective metroplasty in women undergoing in vitro fertilization. However, multicenter, prospective, randomized, and controlled trials are needed to validate these findings and to help define clear diagnostic criteria, surgical indications, and appropriate follow-up of reproductive outcomes after the procedure.

Spinal Dural Arteriovenous Fistula, a Rare and Frequently Misdiagnosed Cause of Mielopathy – Case Report and Review of the Literature

AbstractSpinal dural arteriovenous fistulas (SDAVFs) are rare vascular malformations with unspecific clinical manifestations, which often lead to misdiagnosis and delay in the establishment of effective therapies. Since the neurological prognosis depends on symptom duration and pretreatment neurological status, rapid identification and obliteration of the fistula are key to provide patients with a better quality of life. We herein describe an illustrative case of an elderly patient presenting with progressive myelopathy, with a definitive diagnosis of SDAVF after 18 months of the initial symptoms. We also review the core concepts regarding this condition and discuss strategies to prevent misdiagnosis and worsening of the neurological outcome.

Integrative analysis of bulk and single-cell RNA sequencing reveals the gene expression profile and the critical signaling pathways of type II CPAM

BackgroudType II congenital pulmonary airway malformation (CPAM) is a rare pulmonary microcystic developmental malformation. Surgical excision is the primary treatment for CPAM, although maternal steroids and betamethasone have proven effective in reducing microcystic CPAM. Disturbed intercellular communication may contribute to the development of CPAM. This study aims to investigate the expression profile and analyze intercellular communication networks to identify genes potentially associated with type II CPAM pathogenesis and therapeutic targets.MethodsRNA sequencing (RNA-seq) was performed on samples extracted from both the cystic area and the adjacent normal tissue post-surgery in CPAM patients. Iterative weighted gene correlation network analysis (iWGCNA) was used to identify genes specifically expressed in type II CPAM. Single-cell RNA-seq (scRNA-seq) was integrated to unveil the heterogeneity in cell populations and analyze the communication and interaction within epithelial cell sub-populations.ResultsA total of 2,618 differentially expressed genes were identified, primarily enriched in cilium-related biological process and inflammatory response process. Key genes such as EDN1, GPR17, FPR2, and CHRM1, involved in the G protein-coupled receptor (GPCR) signaling pathway and playing roles in cell differentiation, apoptosis, calcium homeostasis, and the immune response, were highlighted based on the protein-protein interaction network. Type II CPAM-associated modules, including ciliary function-related genes, were identified using iWGCNA. By integrating scRNA-seq data, AGR3 (related to calcium homeostasis) and SLC11A1 (immune related) were identified as the only two differently expressed genes in epithelial cells of CPAM. Cell communication analysis revealed that alveolar type 1 (AT1) and alveolar type 2 (AT2) cells were the predominant communication cells for outgoing and incoming signals in epithelial cells. The ligands and receptors between epithelial cell subtypes included COLLAGEN genes enriched in PI3K-AKT singaling and involved in epithelial to mesenchymal transition.ConclusionsIn summary, by integrating bulk RNA-seq data of type II CPAM with scRNA-seq data, the gene expression profile and critical signaling pathways such as GPCR signaling and PI3K-AKT signaling pathways were revealed. Abnormally expressed genes in these pathways may disrupt epithelial-mesenchymal transition and contribute to the development of CPAM. Given the effectiveness of prenatal treatments of microcystic CPAM using maternal steroids and maternal betamethasone administration, targeting the genes and signaling pathways involved in the development of CPAM presents a promising therapeutic strategy.