Giant vascular malformations invading the skull:A case report

BACKGROUND Vascular malformations(VMs)arise as a result of errors in the process of angiogenesis and are usually present at birth,but may not become apparent until after birth.However,giant VMs of the head and face are uncommon,with few reported cases,and the prognosis for their surgical intervention is unclear.CASE SUMMARY A 12-year-old girl was admitted to the hospital with findings of an enlarged right temporal scalp.After admission,computed tomography(CT)angiography of cerebral ateries showed a right occlusal gap and a right temporal artery venous malformation.Furthermore,cerebral angiography showed a right temporal lobe VM with multiple vessels supplying blood.The patient underwent surgery to remove the malformed vessels and the eroded skull.Two hours after the surgery,the patient's right pupil was dilated,and an urgent CT scan of the skull showed a right subdural haematoma under the incision,which was urgently removed by a second operation.After surgery,we gave continuous antibiotic anti-infection treatment,and the patient recovered well and was discharged two weeks later.CONCLUSION Surgical removal of giant haemangiomas is risky and adequate preoperative(including interventional embolisation)and intraoperative preparations should be made.

Whole mount of adult ear skin as a model to study vascular malformations

Background:Genetic analysis in human patients has linked mutations in PIK3CA,the catalytic subunit of PI-3′Kinase,to sporadic incidences of vascular malformations.Methods:We have developed a mouse model with inducible and endothelial-specific expression of PIK3CA H1047R,resulting in the development of vascular malformations.Systemic induction of this mutation in adult mice results in rapid lethality,limiting our ability to track and study these lesions;therefore,we developed a topical and local induction protocol using the active metabolite of tamoxifen,4OH-T,on the ear skin of adults.Results:This approach allows us to successfully model the human disease in a mature and established vascular bed and track the development of vascular malformations.To validate the utility of this model,we applied a topical rapamycin ointment,as rapamycin is therapeutically beneficial to patients in clinical trials.We found that the induced ear lesions showed significant attenuation after treatment,which was easily quantified.Conclusions:These data collectively provide evidence of a new model to study vascular malformations in adult tissues,which should be particularly useful in environments lacking specialized small-animal imaging facilities.

Concentration is more important than dose when using intralesional Pingyangmycin injection for treatment of vascular malformations

Vascular anomalies represent a wide spectrum of pathology with different clinico-pathological characteristics. Approximately 60% of them occur in the head and neck region. A variety of therapeutic modalities have been reported to manage vascular anomalies over the years, including surgical resection,

Thalidomide for refractory gastrointestinal bleeding from vascular malformations in patients with significant comorbidities

BACKGROUND Refractory gastrointestinal bleeding(GIB)secondary to gastrointestinal vascular malformations(GIVM)such as gastrointestinal angiodysplasia(GIAD)and gastric antral vascular ectasia(GAVE)remains challenging to treat when endoscopic therapy fails.Recently thalidomide has been suggested as a treatment option for refractory GIB.AIM To determine the outcome of patients treated with thalidomide for refractory GIB due to GIVM.METHODS IRB approved,single center,retrospective review of electronic medical records from January 2012 to November 2018.Patients age>18 years old,who had>3 episodes of GIB refractory to medical or endoscopic therapy,and who had been treated with thalidomide for at least 3 mo were included.The primary endpoint was recurrence of GIB 6 mo after initiation of thalidomide.RESULTS Fifteen patients were included in the study,all with significant cardiac,hepatic,or renal comorbidities.The cause of GIB was GIAD in 10 patients and GAVE in 5 patients.Two patients were lost to follow up.Of the 13 patients followed,38.5%(n=5)had no recurrent GIB or transfusion requirement after treatment with thalidomide.Furthermore,84.6%(n=11)of patients had a reduction in transfusion requirements and hospitalizations for GIB.Thalidomide was discontinued in 2 patients due to cost(n=1)and medication interaction(n=1).Reported adverse reactions included fatigue(n=3),neuropathy(n=2),dizziness(n=1),and constipation(n=1).Six patients died during follow up due to unknown cause(n=4)and sepsis(n=2).CONCLUSION Thalidomide appears to be an effective treatment for refractory GIB due to GIAD or GAVE in a Western population with significant comorbidities.

Mandibular Embryonal Rhabdomyosarcoma Confused with a Vascular Malformation: About a Case

Malignant mesenchymal tumors (MTM) in children represent 5% to 10% of malignant tumors in children. They constitute a heterogeneous group of tumors of various differentiations depending on their supposed tissue of origin. They mainly include tumors of muscular origin, those derived from connective, vascular, nervous, or adipose tissue. Rhabdomyosarcoma (RMS) is the most common mesenchymal tumor in children and adolescents (60% to 70% of them). And it accounts for 5.8% of all malignant solid tumors in children. Almost half of rhabdomyosarcomas occur in the head and neck. The prognosis for this type of tumor is particularly poor. A case of rhabdomyosarcoma in the mandible with extension to the abdominal wall and unilateral testis in a 6-month-old infant is reported with evolution since birth. It is a purplish lesion at the level under the right chin which was initially taken for vascular malformation, evolving very quickly towards a mandibular mass deforming the painful face with inflammatory signs, followed by the appearance of a hard swelling under the skin on the left flank taking on the same aspect of the mandibular mass. This observation illustrates the need to know how to systematically think about tumor causes in the face of atypical aspects and to carry out an anatomopathological examination.

Hemorrhagic shock due to ruptured lower limb vascular malformation in a neurofibromatosis type 1 patient:A case report

BACKGROUND Neurofibromatosis type 1(NF-1)is a common autosomal dominant genetic disorder.It is characterized by café-au-lait spots and cutaneous neurofibromas.Although NF-1 typically involves the skin,nerves,bones,and eyes,vascular manifestation in the form of devastating hemorrhage can occur rarely.CASE SUMMARY We present the case of a 47-year-old female with NF-1 who had a ruptured right lower limb arterial malformation.She presented with sudden right lower limb swelling for two hours and symptoms of hemorrhagic shock on admission.The physical examination revealed a right lower limb presenting as elephantiasis and visible dark-brown pigmentation over a large area.Computed tomography angiography showed right lower limb arteriovenous malformation.Therefore,the patient underwent emergency right lower limb digital subtraction angiography(DSA)and vascular embolization after blood transfusions.However,after DSA,vascular embolization,and repeated blood transfusions,the anemia and right lower limb swelling and tenderness did not improve.As a result,the patient underwent right lower extremity above-knee amputation.After amputation,the patient's hemoglobin level improved significantly without blood transfusion,and she was discharged from the hospital after the incision healed.Postoperative pathological examination suggested neurogenic tumors.No other complications had occurred 1-year follow-up.CONCLUSION Vascular malformation and rupture are fatal complications of NF-1.Embolization may not provide complete relief,the patient might need to undergo neurofibroma resection or amputation.

Microsurgery for brainstem vascular malformation:report of 19 cases

Objective To investigate the microsurgical treatment of brainstem vascular malformation and evaluate the surgical outcome. Methods Brain stem vascular malformations in 19 cases were resected by microsurgical techniques. Six cases of cavernous malformations (CM) in the dorsal of pons and medulla underwent

Balloon-occluded retrograde transvenous obliteration for treatment of congenital intrahepatic portosystemic venous shunt:A case report

Congenital intrahepatic portosystemic venous shunt(CPSVS), a rare vascular malformation, has been described in both children and adults and can lead to severe neurophysiological complications. However, a standard therapeutic protocol for CPSVS has not been elucidated. With the advantage of minimally invasive techniques,transcatheter embolization has been used to treat CPSVS. The condition is challenging to manage, especially in patients with large or multiple shunts, through which rapid blood flow can cause ectopic embolism. Here, we describe a case of CPSVS with a large shunt that was successfully treated with balloon-occluded retrograde transvenous obliteration with interlocking detachable coils.

Easily misdiagnosed complex Klippel-Trenaunay syndrome: A case report

BACKGROUND Klippel-Trenaunay syndrome(KTS) is a congenital vascular malformation with a complicated etiology. It is sporadic and clinically rare in occurrence. The typical characteristics are capillary malformation(also known as port-wine stain),varicose veins and malformations, and bony and/or soft tissue hypertrophy with or without lymphatic malformation, which are known as the “classic clinical triad”. Herein, a rare case of KTS characterized by crossed-bilateral limb hypertrophy accompanied by intermittent hematochezia and hematuria is reported.CASE SUMMARY We described a 37-year-old female with KTS. She was admitted to our hospital owing to the gradual enlargement of the left lower extremity along with intermittent hematochezia and hematuria. The patient was diagnosed to have hemorrhoid bleeding by other hospitals and treated with conventional hemostatic drugs, but continued to have intermittent gastrointestinal bleeding and hematuria. Therefore, she visited our hospital to seek further treatment. During hospitalization, relevant imaging and laboratory examinations and colonoscopy were performed. In combination with the patient’s history and relevant examinations, we considered that the patient had a complex form of KTS. We recommended a combined diagnosis and treatment from the vascular, interventional,anorectal, and other departments, although she declined any further treatment for financial reasons.CONCLUSION The clinical manifestations of KTS are extensive and diverse and chiefly include the typical triad. However, Vascular malformations of KTS can also involve several parts and systems such as digestive and urogenital systems. Therefore, the atypical manifestations and rare complications necessitate the clinician’s attention and are not to be ignored.

Spinal dural arteriovenous fistula 8 years after lumbar discectomy surgery: A case report and review of literature

BACKGROUND Spinal dural arteriovenous fistula(SDAVF)is an extremely rare vascular malformation of the central nervous system that is often confused with degenerative spinal disorders due to similar early symptoms and clinical features.Here,we report a case of SDAVF recurrence 8 years after lumbar spine surgery and summarize relevant literature.CASE SUMMARY A 54-year-old male was admitted to our hospital complaining of lower back pain,numbness in both lower extremities and intermittent claudication.Subsequent imaging identified lumbar spinal stenosis.Following surgical treatment,the patient’s symptoms significantly resolved,and he was able to perform daily activities.However,similar symptoms appeared 8 years later,followed by confirmation of SDAVF diagnosis.The patient underwent neurosurgery 7 mo after symptom onset.The follow-up period lasted 14 mo,and the patient remains with marginal neurological symptoms.CONCLUSION This case highlights the importance of prompt SDAVF diagnosis.Due to its nonspecific clinical presentation,the clinical experience of the surgeon and definitive imaging examination are indispensable.Additionally,timely neurosurgery is effective and may significantly improve patient outcomes.

Endoscopic treatment of blue rubber bleb nevus syndrome in a 4-year-old girl with long-term follow-up:A case report

BACKGROUND Blue rubber bleb nevus syndrome(BRBNS)is a rare vascular disease,difficult to diagnose and choose a treatment method,especially in young children.There are several limiting factors to the use of enteroscopy for diagnostics and treatment in pediatric patients,in general.The literature on BRBNS cases is limited and presents various therapeutic approaches.CASE SUMMARY We present here a case of BRBNS involving a 4-year-old female,whose intestinal venous lesions were successfully treated by endoscopic sclerotherapy and aethoxysklerol foam.Skin lesions,typical for BRBNS,appeared on the 8th d of the child’s life and their number increased over the next several months.The child also experienced episodes of critical decrease in hemoglobin level(by as much as 52 g/L)for several years,requiring iron supplementation and several blood transfusions.Video capsule endoscopy revealed numerous vascular formations in the small bowel.The combined findings of gastrointestinal venous formations and skin lesions prompted BRBNS diagnosis.Single-balloon enteroscopy was used to perform sclerotherapy,with aethoxysklerol foam.A positive effect was observed within 19 mo of follow-up.We continue to monitor the patient’s hemoglobin level,every 2 wk,and it has remained satisfactory(>120 g/L).CONCLUSION Endoscopic sclerotherapy can be effective in the clinical management of gastrointestinal manifestations of BRBNS in young children.

Role of octreotide in small bowel bleeding

Gastrointestinal bleeding accounts for a drastic negative impact on the quality of the patients’lives as it requires multiple diagnostic and therapeutic interventions to identify the source of the bleeding.Small bowel bleeding is the least common cause of gastrointestinal bleeding.However,it is responsible for the majority of complaints from patients with persisting or recurring bleeding where the primary source of bleeding cannot be identified despite investigation.A somatostatin analog known as octreotide is among the medical treatment modalities currently used to manage small bowel bleeding.This medication helps control symptoms of gastrointestinal bleeding by augmenting platelet aggregation,decreasing splanchnic blood flow,and antagonizing angiogenesis.In this review article,we will highlight the clinical efficacy of octreotide in small bowel bleeding and its subsequent effect on morbidity and mortality.

Appendiceal bleeding:A case report

BACKGROUND Acute lower gastrointestinal bleeding is common in clinical practice,and the colon is responsible for the majority of cases.However,appendiceal bleeding is an extremely rare cause.Appendiceal bleeding due to vascular diseases,such as angiodysplasia and Dieulafoy’s lesion,may result in massive lower gastrointestinal bleeding.Appendectomy is a reliable and effective option for treatment.CASE SUMMARY A 32-year-old male presented to our hospital with hematochezia that had lasted for 6 h,with approximately 600-800 m L bloody stools and loss of consciousness for a few seconds.Persistent bleeding from the orifice of the appendix was observed by colonoscopy.Following the new diagnosis of appendiceal bleeding,the patient was treated by an emergency laparoscopic appendectomy.Finally,the patient was pathologically diagnosed with appendiceal Dieulafoy’s lesion.The patient was uneventfully discharged,and follow-up 2 wk later showed no evidence of rebleeding.CONCLUSION Although appendiceal bleeding is a rare cause of acute lower gastrointestinal bleeding,clinicians should consider it during differential diagnosis.

Familial cerebral cavernous malformation Retrospective analysis of one Chinese pedigree

Cerebral cavemous malformation （CCM） is a frequently occurring disease in Latin American populations, but little is known about the prevalence in China. This study enrolled one Chinese family with CCM, comprising 16 members; four were diagnosed with CCM which corresponded with autosomal incomplete dominance inheritance. The main clinical manifestations included headache, focal neural dysfunction, and cerebral hemorrhage. The lesions were a mixture of hyperintensity and hypointensity signals on TlWl and T2Wl, with a black hypointensity ring on T2Wl. CCM cranial magnetic resonance imaging T2Wl revealed an iron ring as a result of hemosiderin deposition. Pathological findings of CCM revealed tightly packed and variably thickened vascular channels lacking smooth muscle or elastic tissue. Intralesional hyalinosis, calcification, or bleeding of different phases and perilesional glial hyperplasia were observed, as well as hemosiderin deposition within or around the lesions. These features of this family were consistent with specific genetic, imaging and pathological features of familial CCM. Pathological characteristics reveal repeated hemorrhage, as well as intralesional and perilesional hemosiderin deposition.

Abernethy syndrome in Slovenian children: Five case reports and review of literature

BACKGROUND Abernethy syndrome is a congenital vascular anomaly in which the portal blood completely or partially bypasses the liver through a congenital portosystemic shunt.Although the number of recognized and reported cases is gradually increasing,Abernethy syndrome is still a rare disease entity,with an estimated prevalence between 1 per 30000 to 1 per 50000 cases.With this case series,we aimed to contribute to the growing knowledge of potential clinical presentations,course and complications of congenital portosystemic shunts(CPSS)in children.CASE SUMMARY Five children are presented in this case series:One female and four males,two with an intrahepatic CPSS and three with an extrahepatic CPSS.The first patient,who was diagnosed with an intrahepatic CPSS,presented with gastrointestinal bleeding,abdominal pain and hyperammonaemia at six years of age.He underwent a percutaneous embolization of his shunt and has remained asymptomatic ever since.The second patient presented with direct hyperbilirubinemia in the neonatal period and his intrahepatic CPSS later spontaneously regressed.The third patient had pulmonary hypertension and hyperammonaemia due to complete portal vein agenesis and underwent liver transplantation at five years of age.The fourth patient was diagnosed immediately after birth,when evaluated due to another congenital vascular anomaly,and the last patient presented as a teenager with recurrent bone fractures associated with severe osteoporosis.In addition,the last two patients are characterised by benign liver nodules;however,they are clinically stable on symptomatic therapy.CONCLUSION Abernethy syndrome is a rare anomaly with diverse clinical features,affecting almost all organ systems and presenting at any age.

Recurrent orbital space-occupying lesions:a clinicopathologic study of 253 cases

Objective：To analyze the clinical features,histopathologic classification and frequencies of various types of recurrent orbital space-occupying lesions.Methods：A retrospective study was carried out in 253 consecutive patients with recurrent orbital spaceoccupying lesions treated by surgical excision in the Institute of Orbital Diseases,the General Hospital of the Armed Police Force from January 2009 to December 2010.Results：The patients included 123 males and 130 females aged 2 to 78 years（mean,36.2 years）,and the last recurrence interval after operation ranged from 1 month to 40 years（median,4.75 years）.Of all the cases,159（62.8%）,65（25.7%）,20（7.9%）,8（3.2%） and 1（0.4%） had previously experienced once,twice,three,four and six times of surgeries,respectively.Among them,29（11.5%） cases had recurred 3 times or over,and 37（14.6%） cases got recurrence in 10 or more years postoperatively.Most of the patients with local recurrence presented with various clinical manifestations,while 31（12.3%） cases were symptom-free.Two hundred and thirty-one（91.3%） cases underwent surgical removal of the recurrent orbital lesions,and another 22（8.7%） cases had to receive the exenteration of orbit.Categories of these recurrent orbital lesions after operation were as follows：lacrimal gland tumors,65（25.7%） cases;vasogenic diseases,54（21.3%） cases;neurogenic tumors,42（16.6%） cases;secondary tumors,24（9.5%） cases;orbital inflammation,21（8.3%） cases;myogenic tumors,14（5.5%） cases;fibrous and adipose tumors,12（4.7%） cases;lympho-hematopoietic tumors,7（2.8%） cases;bone or cartilage tumors,7（2.8%） cases;orbital cysts,6（2.4%） cases;and indefinitely differentiated tumor,1（0.4%） case.The 10 top histopathologic diagnoses were lacrimal gland pleomorphic adenoma,hemangiolymphangioma,lacrimal gland adenoid cystic carcinoma,meningioma,inflammatory pseudotumor,neurofibroma,sebaceous gland carcinoma,vascular malformation,rhabdomyosarcoma and hemangioma.Conclusions：The variety of recurrent orbital lesions after operation includes mainly of tumors except for vascular malformation and orbital inflammatory lesions.The lacrimal gland epithelial tumor is most prone to relapse after resection,and early and longer-term postoperative follow-up is needed.

Hemangioma in the lower labial vestibule of an eleven-year-old girl:A case report

BACKGROUND Hemangioma is a vascular benign tumour of endothelial origin.It appears commonly in the first decade of life with increases incidence in females.Hemangioma is not common to happen in the oral cavity and it is extremely rare to appear in the labial vestibule.CASE SUMMARY We present a case of an 11-year-old girl who complained of a painful,slowly growing mass which was consistent with the capillary hemangioma in the left mandibular vestibule.Vascular tumor such as hemangioma in the mandibular vestibule is extremely rare;hence,the clinical definitive diagnosis is very challenging.Therefore,radiographic imaging and histopathologic analysis are crucial to reach to the final diagnosis for proper management.CONCLUSION Comprehensive clinical evaluation,proper diagnostic imaging and microscopic analysis of the mass establish a precise diagnosis of the hemangioma for better management.

Sirolimus treatment for neonate with blue rubber bleb nevus syndrome:A case report

BACKGROUND Blue rubber bleb naevus syndrome(BRBNS)is a rare disease that usually presents with multiple venous malformations in the skin and gastrointestinal tract.Lesions located in the gastrointestinal tract always result in chronic gastrointestinal bleeding and severe anemia.The successful management of BRBNS with sirolimus had been reported in many institutions,due to its impact on signaling pathways of angiogenesis.However,the experience in treatment of neonates with BRBNS was limited.CASE SUMMARY A 38-day-old premature female infant born with multiple skin lesions,presented to our center complaining of severe anemia and hematochezia.Laboratory examination demonstrated that hemoglobin was 5.3 g/dL and contrast-enhanced abdominal computed tomography showed multiple low-density space-occupying lesions in the right lobe of the liver.She was diagnosed as having BRBNS based on typical clinical and examination findings.The patient was treated by transfusions twice and hemostatic drugs but symptoms of anemia were difficult to alleviate.A review of BRBNS case reports found that patients had been successfully treated with sirolimus.Then the patient was treated with sirolimus at an average dose of 0.95 mg/m2/d with a target drug level of 10-15 ng/mL.During 28 mo of treatment,the lesion was reduced,hemoglobin returned to normal,and there were no adverse drug reactions.CONCLUSION This case highlights the dosing regimen and plasma concentration in neonates,for the current common empiric dose is high.

Klippel-Trenaunay Syndrome: A Rare Cause of Vaginal Bleeding in the Prepubescent Girl

Klippel-Trénaunay syndrome (KTS) is an uncommon congenital disorder with unknown etiology that consists of mixed vascular malformations. Visceral organs may also be involved leading to a variety of manifestations. Although seemingly uncommon, genital tract involvement can occur and be a source of significant morbidity. We hereby describe a case of KTS of a 7-year-old female patient presenting with genital bleeding, large venous and capillary malformations and soft tissue hypertrophy of right limb. Patient was treated conservatively and asked to follow-up regularly. KTS should be kept on mind as a cause of vaginal bleeding in preteen girls especially those with suggestive clinical features. Management of this complex condition is challenging because of its progressive nature and wide range of disease severity.

Management of extensive intraparotid vascular malformation: a case report

Treatment of large soft tissue vascular lesions remains one of the greatest challenges in modern plastic surgery.The extent of the disease and the involved structures,but also the expectations of the patients are important in determining the way of treatment.The effective management of hemangiomas and vascular malformations of the head and neck requires a team approach,in order to understand the biologic behavior of the lesion,complete the diagnostic studies necessary to define the area of involvement,and understand the benefits and limitations of interventional radiologic and surgical procedures.The synthesis of this knowledge can help determine the best treatment.The strategic plan and subsequent management of a 34-year-old Maori man with an extensive arteriovenous intraparotid malformation is presented.