Living Donor Liver Transplantation for Congenital Portosystemic Shunt Presenting With Hyperinsulinemic Hypoglycemia.

BACKGROUND: A congenital portosystemic shunt (CPSS) is defined as abnormal vascular communications between the portal vein and the systemic vein. Encephalopathy, hepatopulmonary syndrome, and portopulmonary hypertension are manifestations in patients with CPSS. Hyperinsulinemic hypoglycemia is also one of the manifestations of CPSS. Hyperinsulinemic hypoglycemia secondary to CPSS is caused by a lack of hepatic first-pass elimination of insulin, which is secreted from pancreatic beta cells. CASE PRESENTATION: A 7-month-old boy had hypergalactosemia detected by newborn mass screening. Enhanced abdominal computed tomography showed the absence of the portal vein trunk and extrahepatic portosystemic communication between the superior mesenteric vein and the inferior vena cava. He had suffered from uncontrollable hyperinsulinemic hypoglycemia under protein and lactose restriction. We performed living donor liver transplantation (LDLT) using a left lateral segment graft from his father. The postoperative course was uneventful and the hypoglycemic attacks disappeared. CONCLUSION: We believe that uncontrolled hyperinsulinemic hypoglycemia secondary to CPSS is an indication of LDLT.

Refractory Iron-Deficiency Anemia and Vascular Malformation Concomitant with Aortic Stenosis: Heyde Syndrome.

BACKGROUND Heyde syndrome is characterized by anemia due to angiodysplasia, aortic valve stenosis, and acquired von Willebrand syndrome. However, the awareness regarding Heyde syndrome in clinical practice is low. We report the case of an older woman with severe refractory iron-deficiency anemia and severe aortic stenosis who was diagnosed with Heyde syndrome. CASE REPORT A 70-year-old woman who had been experiencing exertional dyspnea for 3 months prior to presentation was diagnosed with iron-deficiency anemia, with a hemoglobin level of 69 g/L. She did not experience any episodes of bleeding, such as nosebleeds, gum bleeding, abnormal bleeding, or melena. Upper and lower gastrointestinal endoscopy revealed no evidence of bleeding, and oral iron supplementation failed to improve the anemia. Auscultation of the chest identified an ejection systolic murmur. Chest and abdominal computed tomography showed no significant lesions or active bleeding. Capsule endoscopy of the small intestine revealed capillary dilation. Echocardiography detected severe aortic valve stenosis. Blood test results revealed a deficiency in large von Willebrand factor multimers. Therefore, Heyde syndrome was diagnosed. Aortic valve replacement surgery was performed, which resulted in an improvement in anemia and the associated symptoms. CONCLUSIONS In cases of unexplained and treatment-resistant iron-deficiency anemia, especially if careful auscultation detects aortic stenosis, Heyde syndrome should be considered a differential diagnosis. Furthermore, screening for angiodysplasia in the gastrointestinal tract and prompt diagnosis through measurement of large von Willebrand factor multimers are imperative when investigating potential sources of bleeding.

Intramuscular Venous Malformation Associated with Muscle Herniation of the Left Masseter Muscle in a 12-Year-Old Boy.

BACKGROUND Muscle hernias are an uncommon condition typically found in the extremities; masseter muscle hernia is even rarer. However, it is important for clinicians and radiologists to be aware of this possibility. Intramuscular venous malformation (IMVM) is also uncommon and mostly found in the head, neck, and extremities. The simultaneous presence of both conditions is extraordinary uncommon, and, to our knowledge, this has not been reported before in the masseter muscle. Due to their rarity, vague presentation, and inaccurate clinical diagnosis, radiological evaluation is needed to avoid inappropriate surgical planning. CASE REPORT A 12-year-old boy had a long-standing focal left cheek swelling exacerbated by teeth clenching. Lateral X-ray revealed a round calcification over the left mandibular region. Ultrasonography indicated a bulky left masseter muscle with focal heterogeneous structure and 2 rounded calcified foci. During teeth clenching, ultrasonography detected focal muscular herniation through the left masseter muscle facia that reduced with rest. The patient was diagnosed with left masseteric muscle hernia coexistent with IMVM. Surgical excision of the IMVM was performed, and the hernia defect was repaired. Histopathology confirmed the diagnosis, and the patient was discharged without postoperative complications on short-term follow-up. CONCLUSIONS Despite their rarity, masseter hernias and IMVMs should be considered in the differential diagnosis of any masseter lesion, especially in children. We reported a very rare coexistence of both pathologies. Comprehensive diagnosis can be achieved through a combination of clinical examination, X-ray, and ultrasound assessments.

Internal Carotid Artery Hypoplasia Misidentified as Internal Carotid Artery Dissection.

Agenesis or hypoplasia of the internal carotid artery (ICA) may easily be confused with dissection or occlusion. We report a case of a 24-year-old female with complaint of acute left-hand hypoesthesia and a history of occasional intermittent numbness of her right hand with myoclonic jerking. Because previous imaging studies over 2 years were interpreted as occlusion of the left ICA secondary to carotid dissection, the treating physician had prescribed anticoagulant therapy. During transcranial Doppler (TCD) examination, the spectral waveform was unexpectedly normal, prompting a repeat review of all imaging due to the TCD results. Magnetic resonance angiography (MRA) revealed the same "flame-like" appearance of the ICA origin. Late-phase digital subtraction angiography showed a small caliber cervical ICA (occluded at the skull base). Computed tomography demonstrated absence of the carotid canal, confirming an absent intracranial portion of the ICA and establishing a correct diagnosis of left internal carotid hypoplasia. Vascular ultrasound and TCD examinations are noninvasive and inexpensive tools that can improve the interpretation and understanding of the clinical significance of other "static" radiographic tests (MRA, digital subtraction angiography ). An accurate diagnosis is essential to avoid risky, aggressive treatment, such as anticoagulation for an "absent" dissection.

Pulmonary Vein in a Pinch.

The pulmonary veins normally drain into the left atrium, with the superior pulmonary veins typically situated anterior and inferior to the right pulmonary arteries. However, anomalies can happen. We encountered an exceedingly rare pulmonary vascular anomaly for a patient presenting with atypical chest pain, where the right superior pulmonary vein aberrantly ran posterior to the right pulmonary artery (RPA) and became compressed between the RPA and the right main bronchus. Coronary computed tomography angiography identified this specific pulmonary vein anomaly but revealed unremarkable coronary arteries.

Isolated Vascular Malformation of the Clitoris: An Uncommon Cause of Clitoromegaly.

ABSTRACT: Clitoral enlargement (clitoromegaly) due to non-hormonal causes, particularly due to vascular malformation, is rare. Only eight such cases are reported in the literature. We report an additional case of isolated vascular malformation implicating the clitoris of a young girl child and its surgical management.

Peri-operative Anticoagulation Strategies, Bleeding and Thrombotic Complications in Pediatric Patients Undergoing Intervention for Congenital Portosystemic Shunts.

BACKGROUND: Congenital portosystemic shunts (CPSS) are rare congenital abnormalities causing abnormal blood flow between the portal vein and systemic circulation. This study reports on the peri-operative anticoagulation management of CPSS patients post closure, focusing on the incidence of thrombotic and bleeding complications. METHODS: This is a single-center retrospective analysis of CPSS patients who underwent surgery or endovascular intervention between 2005 and 2021. The protocol included unfractionated heparin (UFH) during and immediately after surgery, followed by either warfarin or low molecular weight heparin (LMWH) postoperatively. Outcomes assessed included postoperative thrombotic and bleeding complications. RESULTS: A total of 44 patients were included. Postoperatively, 89% received treatment-dose UFH, transitioning to warfarin or LMWH at discharge. Thrombotic complications occurred in 16% of patients, predominantly in the superior mesenteric vein. Surgical interventions and continuous infusion of tissue plasminogen activator (tPA) were used for clot resolution. Bleeding complications were observed in 64% of patients, primarily managed with transfusions and temporary UFH interruption. No deaths related to thrombotic, or bleeding events were reported. CONCLUSIONS: Our findings underscore the delicate balance required in anticoagulation management for CPSS patients, revealing an occurrence of both thrombotic and bleeding complications postoperatively. LEVELS OF EVIDENCE: Level II, retrospective study.

Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome.

Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a rare condition associated with vascular anomalies and increased tumor risk. Sirolimus, an mTOR inhibitor used for managing vascular anomalies is underexplored in PHTS. A single-institution retrospective review of children with PHTS and vascular anomalies treated with sirolimus identified seven patients. Median age at sirolimus initiation was 10 years. After a median 2.5-year follow-up, six of seven patients (86%) showed significant clinical improvement. No significant adverse effects were observed, except mild buccal ulcers and acne. This study supports sirolimus as an effective and safe treatment for vascular anomalies in a small group of children with PHTS.

Tears of blood: an unusual case of haemolacria due to conjunctival vascular malformation successfully managed by embolisation.

A boy in his mid-teens presented with progressively increasing bleeding from the right eye and nostril intermittently over a period of 6 weeks. A complete ophthalmic examination revealed nothing significant. His otorhinological examination and haematological investigations were within normal limits. The patient came a month later with frank bleeding from the right eye. Ophthalmic examination revealed hyperaemia and maceration of the right lower palpebral conjunctiva. A histopathological examination of conjunctival scrapings from the site showed abnormal dilated blood vessels suggestive of a vascular malformation. Digital subtraction angiography confirmed the presence of a conjunctival micro arteriovenous malformation supplied by the external carotid and ophthalmic artery branches. He underwent successful transarterial Onyx embolisation resulting in complete resolution of the haemolacria.

Total pulmonary arterial reconstruction in a patient with arterial tortuosity syndrome affecting the pulmonary artery: a case report and review of the literature.

BACKGROUND: Arterial tortuosity syndrome is a rare Autosomal recessive disease that leads to a loss of function of the connective tissues of the body, this happens due to a mutation in the solute carrier family 2 member 10 (SLC2A10) gene. ATS is more likely to occur in Large and medium-sized arteries including the aorta and pulmonary arteries. This syndrome causes the arteries to be elongated and tortuous, This tortuosity disturbs the blood circulation resulting in stenosis and lack of blood flow to organs and this chronic turbulent flow increases the risk of aneurysm development, dissection and ischemic events. CASE PRESENTATION: A 2 years old Arabian female child was diagnosed with ATS affecting the pulmonary arteries as a newborn, underwent a pulmonary arterial surgical reconstruction at the age of 2 years old due to the development of pulmonary artery stenosis with left pulmonary artery having a peak gradient of 73 mmHg with a peak velocity of 4.3 m/s and the right pulmonary artery having a peak gradient of 46 mmHg with a peak velocity of 3.4 m/s causing right ventricular hypertension. After surgical repair the left pulmonary artery has a peak pressure gradient of 20 mmHg, with the right pulmonary artery having a peak pressure gradient of 20 mmHg. CONCLUSION: ATS is a rare genetic condition that affects the great arteries especially the pulmonary arteries causing stenotic and tortuous vessels that may be central branches or distal peripheral branches that leads to severe right ventricular dysfunction and hypertension. We believe that surgical treatment provides the optimum outcomes when compared to transcather approaches especially when the peripheral arteries are involved. Some challenges and hiccups might occur, especially lung reperfusion injury that needs to be diagnosed and treated accordingly.

Kidney Transplant for a Patient With Inferior Vena Cava and Abdominal Aorta Abnormalities.

Here, we describe an interesting case of a patient with the duplication of inferior vena cava, high-positioned bifurcation of the abdominal aorta with transposition of iliac arteries, and right renal aplasia associated with end-stage renal disease who underwent kidney transplant. In this case, the patient with anorectal malformations with a vaginal fistula was prepared and underwent a kidney transplant. During the surgery, we discovered duplicated inferior vena cava and transposed iliac arteries. After the surgery, computed tomography angiography revealed the inferior vena cava duplication with the 2 connections between the right and left inferior vena cava with the formation of an anomalous circle, high-positioned bifurcation of the abdominal aorta at the level of the L2 vertebral body, and transposition of right and left iliac arteries. Also, we observed the right kidney aplasia and absence of blood circulation in the left native kidney. In our case, a delayed diagnosis of pyelonephritis resulted in the progression to end-stage renal disease that necessitated a kidney transplant, during which we found these anomalies. We confirmed the asymptomatic course of these anomalies, diagnosed only during radiological imaging or surgical intervention. Patients with congenital anomalies of the kidney and urinary tract should undergo complete investigations before surgical decisions. Diagnosis of this pathology in the preoperative period, especially in transplant patients, will alert the surgery team in advance of the operation and allow preparation for the intraoperative difficulties that are typically associated with anomalies such as inferior vena cava transposition or aplasia.

Pediatric cerebrospinal fluid rhinorrhea caused by low flow vascular anomaly of the temporal bone: A case series.

OBJECTIVE: Atraumatic cerebrospinal fluid (CSF) rhinorrhea is uncommon in children and necessitates a multi-disciplinary evaluation for an etiology. Underlying osseous abnormality due to extensive or multifocal low flow vascular anomaly should be considered as a potential cause of spontaneous CSF leak. Treatment of multifocal low flow vascular anomalies may include medical and surgical approaches. In this series, we seek to determine the presenting signs and symptoms and medical and surgical treatment options for multifocal or extensive low flow vascular anomalies. METHODS: A retrospective case series at a quaternary care children's hospital was compiled. All children with CSF rhinorrhea diagnosed and treated for multifocal low flow vascular anomalies at our institution were included. A total of four patients were identified. RESULTS: All four patients had delay in initial diagnosis of underlying cause of meningitis and CSF rhinorrhea. Average age at diagnosis of multifocal low flow vascular anomaly was 7 years. This was on average 4 years after initial presentation for medical attention. Treatment approach was multidisciplinary and included medical management with sirolimus and bisphosphonates as well as surgical approaches to the skull base (lateral and anterior) to prevent CSF egress. CONCLUSION: Consideration of multifocal low flow vascular anomaly should be included in any pediatric patient presenting with CSF rhinorrhea.

The Significance of Congenital Portosystemic Shunts in Congenital Heart Disease and the Bizarre Phenomenon of Alternating Portosystemic and Systemic-Portal Shunting.

Congenital portosystemic shunts (CPSSs) are rare vascular anomalies characterized by abnormal connections between the portal/splanchnic veins and the systemic veins. CPSSs often occur as an isolated congenital anomaly, but they can also coexist with congenital heart disease (CHD). Owing to their myriad consequences on multiple organ systems, familiarity with CPSS is of tremendous importance to the care of patients with CHD. The rationale and timing for interventions to embolize CPSS in this scenario are discussed. Specific shunt embolization techniques are beyond the scope of this article.

A Rare Case of Internal Jugular Venous Malformation Treated by Surgical Excision.

This paper reports a case of an internal jugular venous malformation (IJVM) and route of treatment in a patient with limited symptoms. After history and imaging studies, a determination of surgical excision was made to rule out possible malignancy and future problems such as thrombosis. The mass was resected, and part of the IJVM was ligated. The mass had no identifiable malignancy, and the patient recovered fully with no complications. The paper highlights the importance of identifying venous malformations and highlights the reasoning behind the course of action.

[Functional assessment of internal carotid artery tortuosity in patients with multifocal atherosclerosis]. / Vazhnost' dinamicheskoi funktsional'noi otsenki patologicheskoi izvitosti vnutrennikh sonnykh arterii u bol'nykh s mul'tifokal'nym aterosklerozom.

The review is devoted to diagnosis and treatment of internal carotid artery tortuosity. The authors consider modern classification, epidemiology and diagnostic options using neuroimaging or ultrasound-assisted functional stress tests depending on medical history and complaints. In addition to standard Doppler ultrasound, rotational and orthostatic tests are advisable due to possible changes of local shape and hemodynamic parameters following body position changes, especially in patients with concomitant atherosclerotic stenosis. Thus, a personalized approach is especially important for treatment and diagnostics of internal carotid artery tortuosity.

Diagnosis of a chronic wound in the special case of a vascular malformation: A proposal of the Wound and Healing Group of the French Society of Vascular Medicine.

Vascular malformations can present with a variety of symptoms and an unpredictable course with the occurrence of wounds. Ulcerations in patients with vascular malformations are fortunately rare. Although few data exist, complications may involve a variety of mechanistic or hemodynamic factors. A rigorous etiological and vascular assessment is therefore essential. In view of the paucity of recommendations, the Wound and Healing Group of the French Society of Vascular Medicine, based on the literature on the subject, presents a number of suggestions for the diagnosis and management of wounds associated with vascular malformations.

[Dynamic functional assessment of internal carotid artery tortuosity in patients with multifocal atherosclerosis]. / Dinamicheskaya funktsional'naya otsenka patologicheskikh izvitostei vnutrennikh sonnykh arterii u bol'nykh s mul'tifokal'nym aterosklerozom. Klinicheskii sluchai.

A personalized approach with attention to anamnesis and specific symptoms is necessary in patients with internal carotid artery tortuosity. Neuroimaging (especially before elective surgery) or functional stress tests following ultrasound of supra-aortic vessels may be necessary depending on medical history and complaints. In addition to standard Doppler ultrasound, these patients should undergo rotational and orthostatic transformation tests. We analyze changes in shape and hemodynamic parameters within the tortuosity area in various body positions. This is especially valuable for patients with concomitant carotid artery stenosis. The article presents a clinical case illustrating the importance of such approach.