RESUMO
Venous aneurysms are an atypical presentation of neck masses in the paediatric population. The evaluation and surgical removal of internal jugular vein phlebectasia and a lipoma coexisting are described in this report. Internal jugular vein phlebectasia is theorised as a congenital defect and is becoming more common with advancing imaging technologies. Both phlebectasia and lipomas are considered benign conditions, but clinicians must be aware of tumours producing mass effect.
Assuntos
Cardiopatias , Lipoma , Veias Braquiocefálicas , Criança , Dilatação Patológica , Humanos , Veias Jugulares/diagnóstico por imagem , Lipoma/diagnóstico , Lipoma/diagnóstico por imagemRESUMO
Classic Menkes disease is a rare X-linked recessive disorder of copper metabolism caused by pathogenic variants in the copper transporter gene, ATP7A. Untreated affected individuals suffer failure to thrive and neurodevelopmental delays that begin at 6-8 weeks of age and progress inexorably to death, often within 3 years. Subcutaneous injections of Copper Histidinate (US Food and Drug Administration IND #34,166, Orphan product designation #12-3663) are associated with improved survival and neurological outcomes, especially when commenced within a month of birth. We previously identified internal jugular vein phlebectasia (IJP) in four Menkes disease subjects. This feature and other connective tissue abnormalities appear to be consequences of deficient activity of lysyl oxidase, a copper-dependent enzyme. Here, we report results from a prospective study of IJP based on 178 neck ultrasounds in 66 Menkes subjects obtained between November 2007 and March 2018. Nine patients met the criterion for IJP (one or more cross-sectional area measurements exceeding 2.2 cm2 ) and five subjects had clinically apparent neck masses that enlarged over time. Our prospective results suggest that IJP occurs in approximately 14% (9/66) of Menkes disease patients and appears to be clinically benign with no specific medical or surgical actionability. We surveyed the medical literature for prior reports of IJP in pediatric subjects and identified 85 individuals and reviewed the distribution of this abnormality by gender, sidedness, and underlying etiology. Taken together, Menkes disease accounts for 16% (15/94) of all reported IJP individuals. Neck masses from IJP represent underappreciated abnormalities in Menkes disease.
Assuntos
ATPases Transportadoras de Cobre/genética , Insuficiência de Crescimento/genética , Predisposição Genética para Doença , Transtornos do Neurodesenvolvimento/genética , Adolescente , Criança , Pré-Escolar , Insuficiência de Crescimento/complicações , Insuficiência de Crescimento/patologia , Feminino , Humanos , Lactente , Veias Jugulares/diagnóstico por imagem , Veias Jugulares/patologia , Masculino , Síndrome dos Cabelos Torcidos , Mutação/genética , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/patologia , UltrassonografiaAssuntos
Colo/irrigação sanguínea , Hemorragia Gastrointestinal/diagnóstico por imagem , Hemorragia Gastrointestinal/etiologia , Intestino Delgado/irrigação sanguínea , Varizes/complicações , Varizes/diagnóstico por imagem , Adulto , Angiografia , Endoscopia por Cápsula , Fármacos Gastrointestinais/uso terapêutico , Humanos , Masculino , Octreotida/uso terapêutico , Recidiva , Varizes/tratamento farmacológicoRESUMO
The internal jugular vein (IJV) is an important vascular structure for oncologists and radiologists and is also a frequently used central venous route. The varia-tions in the pattern of its course, and knowledge of its variations, are important. During the anatomical dissection of a 70-year-old male cadaver, fenestration involving a short segment (2.5 cm) of the right IJV in the superior part of the carotid triangle and a large dilatation (phlebectasia) of the IJV, involving its nonfenestrated segment were found - a case that has not previously been reported. The aetiology and clinical implications of the concurrent anomalies are described. Clinicians and surgeons performing neck vascular or reconstru-ctive surgery should be made aware of both IJV variations in order to prevent inadvertent injury and avoid invasive investigations and inappropriate treatment.
Assuntos
Dissecação , Veias Jugulares/patologia , Veias Jugulares/cirurgia , Idoso , Humanos , Masculino , Pescoço/cirurgiaRESUMO
BACKGROUND: To establish sonographic (US) criteria for the diagnosis of internal jugular phlebectasia (IJP) in children and to determine reliable cutoff values of US measurements with high specificity and sensitivity. METHODS: We used B-mode US for the measurement of internal jugular vein transverse (T) and anteroposterior (AP) diameter, and cross-sectional area (CSA) at rest and during the Valsalva maneuver (VM) in 21 patients, aged 15 months to 16 years, diagnosed with IJP, and compared the results with those of 88 healthy children. Receiver operating characteristics curves were used to determine the optimal cutoff values. RESULTS: Patients with IJP had higher T, AP diameters, and CSA at rest and during VM than controls on the same side (p < 0.001). Receiver operating characteristics curves showed that CSA during the VM on both sides yielded the best results (cutoff value 220 mm(2) with 92.3% sensitivity, 92% specificity on the right side; 188 mm(2) with 90% sensitivity, 87.5% specificity on the left side). AP diameter offered better specificity and sensitivity (≥85%) than T diameter during VM on both sides. CONCLUSIONS: We suggest using an AP diameter >15 mm as a cutoff point for both sides for the diagnosis of IJP in daily practice. US measurement of the jugular vein diameter might help increasing clinicians' awareness of clinically unrecognized cases of IJP and identifying borderline cases that require follow-up.
Assuntos
Veias Jugulares/diagnóstico por imagem , Doenças Vasculares/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Diagnóstico Diferencial , Dilatação Patológica/diagnóstico por imagem , Feminino , Humanos , Lactente , Masculino , Curva ROC , Sensibilidade e Especificidade , Ultrassonografia Doppler em Cores/métodos , Manobra de ValsalvaRESUMO
Congenital internal jugular phlebectasia (CIJP) is a rare condition characterized by congenital dilatation of the vein without tortuosity that becomes more evident during straining as a lateral neck mass. CIJP often remains undiagnosed from a few months to several years after the onset of the swelling. It is frequently asymptomatic although symptomatic cases have been occasionally reported. We present the case of a healthy 7-year-old boy with a lateral neck mass, triggered by the Valsalva maneuver. Neck ultrasound (US) showed right internal jugular axial ectasia, increasing during the Valsalva maneuver; contrast computed tomography (CT) scan confirmed a fusiform dilatation of the right internal jugular vein. Due to the lack of symptoms, we treated our patient conservatively. At 5 years of follow-up, the patient is still asymptomatic, with no evidence of complications or thrombosis. Due to its self-limiting nature, treatment for asymptomatic cases of CIJP should be conservative, providing a follow-up with both clinical and US annual evaluations.
RESUMO
OBJECTIVES: Internal jugular vein phlebectasia (IJVP) is a rare type of vascular abnormality that causes dilatation of internal jugular vein in the neck. There is presently no consensus on the most effective method of treatment for this condition, that is commonly seen in children. We conducted a systematic review of the literature reported till date to comprehend the key features of IJVP and its most effective therapeutic modalities. METHODS: Five databases were searched until October 10, 2022 for articles of any design (including case reports) reporting IJVP in pediatric subjects. Individual patient data on demographics, clinical features of this entity and the differential diagnosis, methods of imaging, management, and outcome of illness were recorded. The quality assessment was performed using the Joanna Briggs Institute's Critical Appraisal Checklist for studies. RESULTS: A total of 51 articles including 169 cases were retrieved and included in the analysis. Of the 169 patients, most of them were male children, and in 77% of cases right internal Juglar vein was involved. All patients had some symptoms suggestive of IJVP with most common ones being neck swelling or tenderness, and difficulty in breathing. In 90% of cases, it was observed that the neck swelling typically increases in size with Valsalva maneuver. Once jugular vein phlebectasia was clinically suspected, ultrasonography, CECT, or color Doppler flow imaging were used to confirm the diagnosis. The management of most of the cases was either conservative or surgical, and in surgery mostly ligation was performed. There have not been any cases of serious complications, therefore, according to included studies, a conservative approach is recommended with continuous monitoring. Out of the 51 studies included, most of them had low risk of bias. CONCLUSION: Internal jugular vein phlebectasia, a rare benign condition, is most commonly found in children, and affects predominantly the right internal jugular vein. Although most patients did well with merely conservative treatment, still management of this vascular anomaly has to be on a case-by-case basis.
Assuntos
Cardiopatias , Varizes , Criança , Humanos , Masculino , Feminino , Veias Jugulares/diagnóstico por imagem , Dilatação Patológica , Tratamento Conservador , Veias BraquiocefálicasRESUMO
Jugular vein phlebectasia is seen in the first decade of life and carries a high chance of misdiagnosis as it can often be mistaken for other conditions observed in pediatric populations. High clinical suspicion along with radiological studies can help to confirm the diagnosis. Treatment is usually conservative, with surgery reserved for unique circumstances. This is the first case to be reported with concomitant tracheomalacia and a history of tracheoesophageal fistula repair in a pediatric patient with external jugular vein phlebectasia.
RESUMO
Jugular phlebectasia is an enlargement of the jugular vein that manifests as a soft, cystic lump in the neck which can be compressed, becomes prominent on crying or straining and disappears on rest. It needs to be distinguished from laryngocele, neck cysts, and tumours that can also develop with straining. We report a case of a seven-year-old boy presenting with a cervical cystic mass. Comparable computed tomography and ultrasonography findings helped identify the pathology.
RESUMO
IJP is a rare, congenital, benign, isolated, sporadically occurring fusiform or saccular dilatation of Internal Jugular Vein (IJV) of unknown aetiology usually presenting as a unilateral neck mass. It is mostly seen in children and young adults. We report a 4 year old male presented to Expert ENT & Diagnostic Centre presenting with history of painless right neck swelling in the right carotid triangle first observed on crying with no history of trauma, facial congestion, chronic cough, difficulty in swallowing or breathing, non febrile, venous humps, heaviness or cessation of normal voice. Diagnosis of right IJP was made. Exploration and wrapping the dilated segment in polytetrafluoroethylene tube graft was done. Because of its rarity, this entity is frequently ignored or misdiagnosed. This case report intends to stress the importance of keeping IJP as differential diagnosis while dealing with such a swelling to avoid invasive investigations and inappropriate treatment.
RESUMO
Phlebectasia is the abnormal saccular fusiform dilatation (without tortuosity) of a vein, which may affect any vein. Its etiology remains unknown and it is seen usually in the pediatric age group as a unilateral lower neck swelling, mostly on the right side. The other differential diagnoses of the neck swellings which increase in size during a Valsalva manoeuver are tumors or cysts of the upper mediastinum, external laryngeal diverticulum or laryngoceles. Our case report has highlighted the importance of understanding the nature of this lesion by using non-invasive radiological diagnostic modalities (USG), in order to avoid invasive investigations which can lead to catastrophic results. Case report. We describe a case of five year old boy with history of inguinal hernia repair a year ago presented with intermittent right sided neck swelling since he was two years old. His examination at rest was normal. However, with the Valsalva manoeuver a soft, painless, compressible swelling which appeared in the right lower neck was seen, which was not attached to the deep structures. Flexible nasopharyngolaryngoscope revealed normal laryngeal finding. Initial ultrasound finding revealed normal looking cervical lymph nodes bilaterally with no suspicious cystic lesion or collection. Patient then arranged for MRI neck where there are multiple bilateral subcentimeter cervical lymph nodes. However, repeated ultrasound neck while performing Valsalva manoeuver by patient showed sonographic features in keeping with bilateral internal jugular veins phlebectasia. Patient then was referred to pediatric surgeon for further management. A clinical diagnosis can be achieved by having a strong suspicion about this intermittent neck mass. It should be evaluated with non-invasive radiological modalities to avoid the possible catastrophic results which result from invasive techniques.
RESUMO
Internal jugular phlebectasia is a rare entity in which there is a fusiform dilatation of the internal jugular vein (IJV), usually presenting as a neck mass or tinnitus. The jugular bulb (JB) is an enlarged confluence connecting the sigmoid sinus and the IJV. It has been suggested that JB abnormality might also cause vertigo and pulsatile tinnitus. This prospective interventional study involved 15 patients with pulsatile tinnitus associated with internal jugular phlebectasia. Four patients presented with recurrent vertigo attacks. IJV diameter at rest ranged from 11 to 18 mm. Eight patients have had inner ear bone dehiscence, and 40% had high JB. All cases were treated by surgical fixation using a ringed polytetrafluoroethylene graft extending from the costoclavicular joint to the sigmoid sinus under fluoroscopic guidance. Tinnitus disappeared immediately postoperatively in all cases, followed by the disappearance of vertigo on the fourth day. Two cases reported thrombosis of the graft in the sixth and seventh months but maintained symptomatic improvement. Recurrence was reported in 2 cases while the grafts were patent. Surgical fixation by replacing the jugular vein and bulb with a synthetic graft may offer an excellent surgical option for relieving vascular tinnitus, especially in these young patients in whom endovascular therapy may not be a durable treatment.
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Zumbido , Humanos , Zumbido/etiologia , Zumbido/cirurgia , Estudos Prospectivos , Veias Jugulares/cirurgia , Vertigem/complicaçõesRESUMO
A nine-year-old boy came to our clinic for the appearance of a voluminous swelling at the base of the neck in the jugular area after coughing. He underwent fibroscopy and a contrast-enhanced chest computed tomography (CT) scan, which did not indicate pathological findings even during the Valsalva maneuvre. After a color-Doppler ultrasound of the epiaortic vessels was obtained, a diagnosis of idiopathic phlebectasia of the internal jugular veins was made. The cause of the jugular phlebectasia remains unclear, and no treatment is indicated for this rare, benign, and self-limiting condition.
Assuntos
Veias Jugulares/diagnóstico por imagem , Varizes/diagnóstico por imagem , Criança , Dilatação Patológica , Humanos , Masculino , Tomografia Computadorizada por Raios X , Ultrassonografia Doppler em Cores , Manobra de Valsalva , Varizes/etiologia , Varizes/terapiaRESUMO
Jugular phlebectasia has been increasingly recognised with the advent of non-invasive diagnostic methods. Phlebectasia differs from varix, as it is an abnormal outward dilatation of a vein without tortuosity. It presents as a soft, compressible mass, apparent upon straining or execution of the Valsalva maneuver. The differentials for neck masses are broad, but if the swelling appears on the Valsalva maneuver, the type of mass narrows down to a laryngocele, superior mediastinal mass or phlebectasia. A simple non-invasive investigation, such as ultrasonography, is used as a diagnostic tool. We report a case of jugular phlebectasia that was suspected clinically and confirmed via ultrasound to be a vascular lesion which changed its size upon straining.
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INTRODUCTION: Internal jugular vein ectasia is a condition in which there is a dilatation of the internal jugular vein. A patient usually presents in the first decade with swelling in the neck, which aggravates in size while straining or coughing. This is a very rare condition and the chances of misdiagnosis are quite high. It is diagnosed by proper history taking, examination, and radiological study. CASE REPORT: We reported the case of a seven-year-old female presenting with right-sided swelling in the neck aggravating in size while straining or coughing. Regular follow-up was advised. Swelling regression was observed after one year of follow-up without any surgical treatment. CONCLUSION: This is a self-limiting condition and usually the treatment is not warranted. Regular follow-up is advised for the patient.
RESUMO
Phlebectasia describes an anomalous, fusiform dilatation of a vein. In the neck region, the internal and external jugular veins are mostly affected. To our knowledge, this is the first case in Saudi Arabia of internal jugular phlebectasia affecting an adult female. We describe a 61-year-old female with complaints of a neck swelling she noticed 4 years ago. Initially, the swelling increased in size and reached a stable level. It was asymptomatic and only enlarged during Valsalva maneuver. Flexible nasolaryngoscopy and computerized tomography scan showed unremarkable examination. Follow-up after 1 year with US Doppler showed no progression. Internal jugular phlebectasia is a rare disorder which is often diagnosed during childhood. More often than not, it does not cause any significant morbidity. Since it is a benign condition, observation is advised with regular monitoring. For asymptomatic lesions, surgical intervention is recommended if cosmetic or psychologic concerns are present.
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BACKGROUND: Internal jugular phlebectasia (IJP), the abnormal dilatation of internal jugular vein, is generally considered a benign anomaly. However, because IJP is uncommon, little is known about its natural history, and currently, no consensus on the best treatment modality is available. METHODS: The purpose of this article is to conduct a systematic review of available literature on recently reported IJP cases to understand the main characteristics of IJP and its most frequent therapeutic approaches. Following the preferred reporting items for systematic reviews and meta-analyses guidelines, literature search for IJP cases was conducted in the COCHRANE, PUBMED, EBSCOHOST, SCOPUS, OVID, and SCIELO databases. RESULTS: A total of 97 original articles were found, with a total of 247 IJP cases reported including both pediatric and adult patients. CONCLUSIONS: To the best of our knowledge, this study is the largest systematic review analyzing all the reported cases of IJP. IJP is considered by most authors as a benign abnormality that predominantly affects the right jugular vein. It is most commonly diagnosed in children. At present, conservative treatment is preferred for pediatric but not for adult patients. Multicenter randomized prospective studies are required to further understand this rare anomaly.
RESUMO
The patient was a 56-year-old man with microscopic polyangiitis and symmetrical peripheral polyneuropathy of the extremities who was positive for p-ANCA, EMG pattern of mononeuritis multiplex and skin biopsy showing the presence of nonspecific vasculitis. He had phlebectasia with plethora and tortuous vessels on dorsum of the fingers on both hands, paresis and hypoesthesia of fingers and toes with functional limitations. The administration of prednisone, azathioprine and a cyclophosphamide pulse achieved rapid improvement in the general symptoms, but the changes in the neuropathy occurred very slowly. After 47 months of treatment, he had mild phlebectasia in fingers and slight hypoesthesia in hands and feet, with normal laboratory tests. Phlebectasia was probably the result of an autonomic dysfunction due to vasculitis of the vasa nervorum and could be a sign to look for in similar cases.