Total Knee Arthroplasty Is Safe and Successful in Patients With Klippel-Trénaunay Syndrome

Background

Klippel-Trénaunay syndrome (KTS) is a severe vascular malformation that can lead to hypertrophic osteoarthritis. Total knee arthroplasty (TKA) performed in extremities affected with KTS is challenging given the high-risk vascular considerations and occasionally poor bone quality.

Congenital anomalies of the optic nerve

Congenital optic nerve head anomalies are a group of structural malformations of the optic nerve head and surrounding tissues, which may cause congenital visual impairment and blindness. Each entity in this group of optic nerve anomalies has individually become more prevalent as our ability to differentiate between them has improved due to better characterization of cases. Access to better medical technology (e.g., neuroimaging and genetic analysis advances in recent years) has helped to expand our knowledge of these abnormalities. However, visual impairment may not be the only problem in these patients, some of these entities will be related to ophthalmologic, neurologic and systemic features that will help the physician to identify and predict possible outcomes in these patients, which sometimes may be life-threatening. Herein we present helpful hints, associations and management (when plausible) for them.     

Coronary anomaly in Behçet's syndrome

A 39-year-old man who was known to have Behçet's syndrome suffered an acute posterior-wall myocardial infarction. The infarction occurred 13 years after the onset of the Behçet's disease, which had been marked by recurrent chorioretinitis and thrombosis of the retinal veins of both eyes. Coronary arteriography showed occlusion of the circumflex branch and an aneurysmal fistula between the left main branch and the pulmonary artery. The other coronary vessels were normal. A search for vascular risk factors revealed only cigarette smoking. Under a non-invasive treatment regimen, no complications of the mycoardial infarction were seen. During a 2-year medical follow-up, the patient was asymptomatic and did not show any further signs of Behçet's disease activity.     

How to Treat Peripheral Arteriovenous Malformations

Arteriovenous malformations (AVMs) are direct communications between primitive reticular networks of dysplastic vessels that have failed to mature into capillary vessels. Based on angiographic findings, peripheral AVMs can be classified into six types: type I, type IIa, type IIb, type IIc, type IIIa, and type IIIb. Treatment strategies vary with the types. Type I is treated by embolizing the fistula between the artery and the vein with coils. Type II (IIa, IIb, and IIc) AVM is treated as follows: first, reduce the blood flow velocity in the venous segment of the AVM with coils; second, perform ethanol embolotherapy of the residual shunts. Type IIIa is treated by transarterial catheterization of the feeding arteries and injection of diluted ethanol. Type IIIb is treated by transarterial or direct puncture approaches. A high concentration of ethanol is injected through the transarterial catheter or direct puncture needle. When the fistula is large, coil insertion is required to reduce the amount of ethanol. Type I and type II AVMs showed the best clinical results; type IIIb showed a satisfactory response rate. However, type IIIa showed the poorest response rate, either alone or in combination with other types. Clinical success can be achieved by using different treatment strategies for different angiographic AVM types.     

A case of delayed cyst formation post brain AVM stereotactic radiosurgery for arteriovenous malformation: Case report

Arteriovenous malformations (AVMs) are a rare cause of cerebrovascular abnormality with incidence of about 1 in 100,000 people per year and point prevalence of about 0.2%. AVMs are associated with serious complications such as intracranial haemorrhage (2–4% a year, 16% and 29% at 10 and 20 years after diagnosis), seizures (10–30%), focal neurologic deficits, and headaches. The management options are surveillance, endovascular embolization, microsurgical excision and stereotactic radiosurgery (SRS).In SRS Stereotactically focused high energy beams of photons induce progressive thrombosis by fibro-intimal hyperplasia and subsequent luminal obliteration. These changes usually take one to three years known as “latency period”. Complications are reported in 8% of patients undergoing SRS, including radiographic parenchymal lesions, cranial nerve deficits, seizures, headaches, and cyst formation.Cyst formation is reported in about 1.2 % of patients undergoing SRS. While the exact mechanism of post SRS cyst formation is unclear, it is hypothesized that it might be due to damage to the blood brain barrier and increased vessel wall permeability. Delayed cyst formation is reported with latency period between 3 and 10 years after radiotherapy for treatment of cerebrovascular AVMs. However, cystic formation with longer latency periods (in one case upto 17 years) after radiotherapy for other causes such as nasopharyngeal cancers have been reported.Here we report a case of delayed cyst formation after SRS for cerebrovascular AVM with latency period of 20 years.     

Coexistence of arteriovenous malformation and meningioma in a single patient: Systematic review and illustrative case

BackgroundThe coexistence of intracranial arteriovenous malformation (AVM) and meningioma in a single patient is seldom reported, so the clinical profile, optimal management, and outcomes of these patients are mostly unknown.MethodsWe performed a systematic review of the SCOPUS and PubMed databases for case reports and case series on patients with both intracranial AVMs and meningiomas. Data on demographics, clinical characteristics, surgical management, and outcomes were collected.ResultsA total of 18 cases were reported in the literature, including the present case. The mean age at presentation was 54 years (range of 15–70 years), with no gender predilection. Most of the meningiomas and AVMs were frontal in location, and more than half of the lesions were contiguous. The most common presenting symptoms were seizures (67%), headache (44%), and weakness (33%). Majority of the patients underwent single stage meningioma and AVM excision (44%), followed by staged meningioma excision then AVM excision (17%) and meningioma excision only (17%). In all, 94% (17/18) of the meningiomas were excised compared to 72% (13/18) of the AVMs. Outcomes were reported in 15 patients; 80% were favorable, but there were 2 deaths and 1 tumor recurrence after 5 years.ConclusionThe coexistence of an intracranial AVM with a meningioma is recognized but rarely reported in the literature. Individualized treatment should be employed in managing patients with concurrent lesions, and outcomes are generally favorable due to the benign nature of both these entities.     

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype

Mosaic Variegated Aneuploidy Syndrome 2 (MVA2; MIM 614114) is a rare autosomal recessive disorder, characterized by mosaic aneuploidies involving multiple chromosomes and tissues, caused by biallelic pathogenic variants in the CEP57 gene. Only 10 patients have been reported to date. We report two additional non related cases born to Moroccan consanguineous parents, carrying the previously described c.915_925dup11 CEP57 homozygous variant. Common features of these 12 cases include growth retardation, typically of prenatal onset, distinctive facial features, endocrine, cardiovascular and skeletal, abnormalities while malignancies have not been reported. This report describes the phenotypical spectrum of MVA2.     

Bleomycin for orbital and peri-orbital veno-lymphatic malformations – A systematic review

BackgroundOrbital and peri-orbital venolymphatic malformations (VLM) are low flow vascular malformations. Intralesional bleomycin is now commonly being used to treat such malformations.ObjectiveThe purpose of this systematic review is to synthesize evidence on the safety and efficacy of bleomycin/pingyangmycin sclerotherapy for the treatment of orbital and peri-orbital VLM.MethodsWe searched Medline, Embase, Scopus and Cochrane database for studies reporting outcomes of bleomycin/pingyangmycin sclerotherapy for orbital and peri-orbital VLM between 1974 to April 5th, 2019. Nine retrospective cohort studies enrolling 132 patients were included. Two reviewers independently screened and extracted data and assessed the risk of bias. Predefined outcome measures were subjective and objective reduction of the lesion and associated complications.ResultsSubjective reduction of the lesions was seen in 96.2% of the studies. Objective reduction of the lesion and symptomatic improvement were reported in 91.6 and 95% of the studies respectively. Non responders were 9.0%. Minor adverse events were reported in 18.1% of the studies. Major complications like pulmonary toxicity or pulmonary fibrosis was not encountered in any of the included studies. Quality of evidence was generally low.ConclusionBleomycin/pingyangmycin sclerotherapy is very effective and relatively safe for the treatment of orbital and periorbital VLM and is not associated with any major side effects including pulmonary fibrosis.Limitations: The systematic review is limited mainly due to low quality of the included studies with retrospective design.