[Ascending aorta and aortic arch hypoplasia in a patient with connective tissue dysplasia and multiple deficit of coagulation factors]. / Gipoplaziya voskhodyashchego otdela i dugi aorty u bol'nogo s displaziei soedinitel'noi tkani i kombinirovannym defitsitom plazmennykh faktorov svertyvaniya.

Connective tissue dysplasia (CTD) is an urgent problem, especially in young and employable people. Damage to cardiovascular system and, in particular, aorta is predominant factor determining the incidence of various complications and mortality in patients with CTD. The authors report surgical treatment of aortic hypoplasia in an adolescent patient with connective tissue dysplasia syndrome and combined deficiency of coagulation factors.

RETINAL VASCULAR ABNORMALITIES RELATED TO NEUROFIBROMATOSIS TYPE 1: Natural History and Classification by Optical Coherence Tomography Angiography in 473 Patients.

PURPOSE: To analyze and classify neurofibromatosis Type 1 (NF1)-related retinal vascular abnormalities (RVAs), their natural history and correlation with disease severity, in a large cohort of patients. METHODS: This was an observational longitudinal study with prospective enrollment. Four hundred and seventy-three patients affected by NF1 and 150 age-matched healthy subjects were consecutively enrolled. Retinal vascular abnormalities were detected by means of near-infrared reflectance and studied by optical coherence tomography angiography. The superficial vascular plexus and the deep vascular complex (DVC) were quantitatively and qualitatively analyzed. RESULTS: We identified RVAs in 82 of 473 (17%) NF1 patients, but in none of the 150 healthy subjects. A comparison revealed that NF1 patients with RVAs showed a higher number of NF1 diagnostic criteria (4.3 ± 1.5 vs. 3.9 ±1.5, respectively; P = 0.02) than patients without RVAs. Three different RVA types were identified on optical coherence tomography angiography: macrovascular angiomatosis of the sole superficial vascular plexus; macrovascular angiomatosis of the superficial vascular plexus combined with microvascular angiomatosis of the deep vascular complex; and combined macrovascular angiomatosis of both superficial vascular plexus and deep vascular complex. The prospective analysis of optical coherence tomography angiography images showed no significant longitudinal evolution of RVAs (mean follow-up: 3.7 ± 2.8 years). A single patient developed a de novo single RVA, and two RVAs showed detectable changes during follow-up. CONCLUSION: In NF1 patients, RVAs are a characteristic sign that correlates with a more severe systemic disease expression, usually remaining stable during time. Optical coherence tomography angiography allows for the identification of different RVAs subtypes.

Sclerotherapy treatment of a large venous malformation invading the bladder wall related to Klippel-Trenaunay syndrome.

We report the case of a 35-year-old woman who presented with recurrent macroscopic haematuria and known diagnosis of Klippel-Trenaunay syndrome. Imaging and cystoscopy identified an extensive venous malformation involving a large area of the bladder wall. Holmium laser therapy was ineffective at obtaining symptom control. Following a multidisciplinary team meeting, transvenous sclerotherapy with sodium tetradecyl sulphate was performed under image guidance. A reduction in venous density was observed on cystoscopy and the patient has had complete resolution of symptoms within 6 weeks and continued to be asymptomatic up to 24-month follow-up. We propose that transvenous sclerotherapy is considered first-line treatment in this clinical setting.

Symptomatic Intraosseous Vascular Malformation of Infraorbital Rim: A Case Report With Literature Survey.

BACKGROUND/AIM: Intraosseous orbital hemangiomas or vascular malformations (VM) are rare. This report is intended to complement the experience of diagnosing and treating a rare vascular lesion at this site. Special attention is paid to three-dimensional imaging and the morphological distinction between the two entities in this location. CASE REPORT: A 54-year-old female was examined and surgically treated for an exophytic firm mass of the infraorbital, which had become palpable as a hard mass due to growth in size. At first, a bone tumor, for example, an osteoma, was suspected. Intraoperatively, an osseous expansion with distinct fenestrations of the newly grown bone's surface, was detected. The lesion was firmly attaching to the orbital rim. The densely vascularized tumor was well defined to the soft tissues but had grown in continuity from the orbital floor and rim. Vascularized cavities caused the tumor to have a slightly reddish color. The histological examination confirmed the suspicion of the lesion's vascular origin. The lesion's immunohistochemical expression profile approved the final diagnosis of intraosseous VM. CONCLUSION: The symptoms of intraosseous vascular lesions of the orbit are determined by location and size. Modern imaging techniques facilitate the estimation of tumor-like expansion of lesions. However, the imaging characteristics of intraosseous vascular lesions are very variable. The symptoms of the patient presented herein show that growth phases of a vascular orbital malformation can occur in later stages of life and are initially indistinguishable from a neoplasm. In individual cases, patient care necessitates advanced diagnostic measures to establish the diagnosis and determine surgical therapy.

A combination of single-balloon enteroscopy-assisted laparoscopy and endoscopic mucosal resection for treating gastrointestinal venous malformations in blue rubber bleb nevus syndrome: a case report.

BACKGROUND: Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disease characterized by multifocal venous malformations. It remains a considerable challenge in treating the gastrointestinal (GI) venous malformations due to multiple lesions throughout the GI tract, and the likelihood of recurrence. We report a case study of BRBNS in the GI tract, in which GI venous malformations and related GI bleeding were successfully treated with a combination of multiple endoscopic procedures. CASE PRESENTATION: A 17-year-old man was admitted to our hospital for dizziness and hypodynamia. The symptoms persisted for nearly 1 year. The laboratory tests revealed iron-deficiency anemia with abnormally low hemoglobin (Hb), and a strong positive fecal occult blood test. A total of four hemangiomas were detected: one in the stomach, one in the descending colon, and two in the small intestines with a high risk of hemorrhage. Under gastroendoscopy, enteroscopy, and video capsule endoscopy (VCE) throughout the GI tract, the patient underwent surgical treatment. Endoscopic mucosal resection was initially performed in the stomach and colon, and the lesions in the small intestine were resected with laparoscopy auxiliaried by single-balloon enteroscopy (SBE), during which SBE assisted in identifying the lesions. The patient well-tolerated the procedures, and had a favorable prognosis. CONCLUSION: The combination of single-balloon enteroscopy-assisted laparoscopy and endoscopic mucosal resection was effective for the present case, which could be considered for patients with similar clinical conditions.

Vascular anomaly of the posterior circulation associated with intracranial lipoma-like lesion in the cerebral peduncle manifesting as oculomotor nerve palsy.

Intracranial lipomas are rare and often located in the midline of the brain. Intracranial lipomas are often associated with malformations of the brain such as dysgenesis of the corpus callosum, but rarely with vascular malformations. A man presented with left-sided facial pain at the age of 31. He developed left oculomotor nerve palsy at the age of 38 years and was referred to our hospital at the age of 48. Radiological findings revealed vascular anomalies of the left posterior cerebral and superior cerebellar arteries with intracranial lipoma-like lesion in the cerebral peduncle. Surgical treatment was complicated by the lesion location, so we administered conservative therapy. Despite treatment with corticosteroids, his symptoms have not improved. This unique case documents the presentation of vascular anomalies of the left posterior cerebral and superior cerebellar arteries associated with lipoma in the cerebral peduncle.

Widely Divergent Congenital Inferior Tibiofibular Diastasis with Separate Soft-Tissue Cover and Persistent Sciatic Artery: A Previously Unreported Combination: A Case Report.

CASE: We report a case of a child with widely divergent congenital inferior tibiofibular diastasis with persistent sciatic artery (PSA). The dysplastic tibia and fibula were widely divergent, and the fibula was displaced proximally and medially with the foot alongside the thigh between the 2 legs, with PSA diagnosed on computed tomography angiogram. The child was treated with fibula-foot complex excision and below-knee prosthesis and was ambulating independently at 1-year follow-up. CONCLUSIONS: The combination of a major structural anomaly (tibiofibular diastasis with a separate soft-tissue cover) and an unusual vascular malformation (PSA) has not been reported previously and made surgical reconstruction challenging.

Oral Sirolimus: An Option in the Management of Neonates with Life-Threatening Upper Airway Lymphatic Malformations.

Background: Mechanistic target of rapamycin (mTOR) inhibitors are being used off-label showing promising results in patients with vascular anomalies. Children with lymphatic malformations (LMs) involving the airway benefit from sirolimus therapy soon after birth, reducing the need of tracheostomy. Available information about efficacy and side effects in neonates remains poor. We present seven newborns with severe head and neck LM showing response to sirolimus with no significant toxicity. Methods and Results: We performed a retrospective review of neonates with head and neck LM who received sirolimus between January 2014 and May 2018 with upper airway involvement needing ventilatory support. We analyzed type of LM, involved anatomical area, symptoms and response to sirolimus, including dosage, blood levels, response, side effects, and complications. Seven neonates received primary treatment with sirolimus in the context of cervical LM. Sirolimus was started at the recommended dose of 0.8 mg/m2/12 h and adjusted to maintain blood levels between 4 and 12 ng/mL. Median follow-up was 32 months (4-43) with a median treatment duration of 12 months (3-43). One patient had complete resolution of the malformation, one had complete resolution of symptoms, and five had partial resolution of the malformation with significant improvement in their respiratory conditions. Two patients required additional subtotal surgical resection and one tracheostomy. Four patients remain under treatment. Toxicity was not observed. Conclusions: Sirolimus is a safe drug in neonates and can be considered the first therapeutical option in newborns at high risk of respiratory failure before sclerosis or surgery. Close follow-up is mandatory to identify side effects at long-term use.

Rectal Venous Malformation Treated by Superior Rectal Artery Embolization.

A 25-year-old female was referred to the Interventional Radiology Department for investigation and treatment of a rectal venous malformation (RVM) causing large recurrent episodes of rectal bleeding and chronic anaemia. Magnetic resonance imaging (MRI) demonstrated a large venous malformation affecting the rectum, lower pelvis and left thigh. After three failed attempts at injection foam sclerotherapy using fluoroscopic colonoscopy, a multidisciplinary team proposed an embolization procedure of the arterial inflow to the venous malformation. Following discussion with the patient, embolization of the superior rectal arteries was undertaken with immediate on-table fluoroscopic improvement in the RVM. Post-treatment, a significant reduction in bleeding, was reported by day 10 with subsequent return to activities of daily living and full employment. Follow-up MRI at 1 year demonstrated significant reduction in bowel-wall thickening.

Virome Analysis Reveals No Association of Head and Neck Vascular Anomalies with an Active Viral Infection.

BACKGROUND/AIM: Vascular anomalies encompass different vascular malformations [arteriovenous (AVM), lymphatic (LM), venous lymphatic (VLM), venous (VM)] and vascular tumors such as hemangiomas (HA). The pathogenesis of vascular anomalies is still poorly understood. Viral infection was speculated as a possible underlying cause. MATERIALS AND METHODS: A total of 13 human vascular anomalies and three human skin control tissues were used for viral analysis. RNA derived from AVM (n=4) and normal skin control (n=3) tissues was evaluated by RNA sequencing. The Virome Capture Sequencing Platform for Vertebrate Viruses (VirCapSeq-VERT) was deployed on 10 tissues with vascular anomalies (2×AVM, 1×HA, 1×LM, 2×VLM, 4×VM). RESULTS: RNA sequencing did not show any correlation of AVM with viral infection. By deploying VirCapSeq-VERT, no consistent viral association was seen in the tested tissues. CONCLUSION: The analysis does not point to the presence of an active viral infection in vascular anomalies. However, transient earlier viral infections, e.g. during pregnancy, cannot be excluded with this approach.

Neurofibromatosis type 1-associated multiple rectal neuroendocrine tumors: A case report and review of the literature.

Neurofibromatosis type 1 (NF-1) is commonly associated with benign or malignant tumors in both the central and peripheral nervous systems. However, rare cases of NF-1-associated multiple rectal neuroendocrine tumors have been reported. This report describes a case of a 39 year old female with NF-1 and intermittent hematochezia as a primary symptom. Physical examination showed multiple subcutaneous nodules and café au lait spots with obvious scoliosis of the back. Imaging examinations and colonoscopy found malformation of the left external iliac vein and multiple gray-yellow nodules with varying sizes and shapes in the rectal submucosal layer. Histological and immunohistochemical results suggested multiple rectal neuroendocrine tumors, a rare disease with few appreciable symptoms and a particularly poor prognosis. The patient with NF-1 presented here had not only multiple rectal neuroendocrine neoplasms but also vascular malformations, scoliosis and other multiple system lesions. This case therefore contributes to improving clinical understanding, diagnosis and treatment of related complications for patients with NF-1 who present with associated medical conditions.

Multiple acquired portosystemic shunts secondary to primary hypoplasia of the portal vein in a cat.

A 6-year 5-month-old spayed female Scottish Fold cat presented with a one-month history of gait abnormalities, increased salivation, and decreased activity. A blood test showed hyperammonemia and increased serum bile acids. Imaging tests revealed multiple shunt vessels indicating acquired portosystemic shunt. Histopathologic analysis of liver biopsy showed features consistent with liver hypoperfusion, such as a barely recognizable portal vein, increased numbers of small arterioles, and diffuse vacuolar degeneration of hepatocytes. These findings supported the diagnosis of primary hypoplasia of the portal vein/microvascular dysplasia, (PHPV/MVD). To our knowledge, this is the first case of feline PHPV/MVD that developed multiple acquired portosystemic shunts and presented with hepatic encephalopathy.

A case of congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome with lipoatrophy as an important clinical manifestation.

Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome is a PIK3CA-related overgrowth spectrum presenting with congenital, asymmetric, disproportionate overgrowth associated with dysregulated adipose tissue, enlarged bony structures, and mixed primarily truncal vascular malformations. We present this case to raise awareness that very thin body habitus (lipoatrophy) contrasting with areas of overgrowth can be an important clinical feature of this syndrome and, if not recognized, can lead to unnecessary investigations.