Malformation Presenting Research Articles

Corrigendum to “Asymptomatic presentation of a congenital malformation of the portal vein with portosystemic shunt” [Radiol Case Rep 15 (2020) 2009-2014

[This corrects the article DOI: 10.1016/j.radcr.2020.07.076.].

Surgical Management of Intramuscular Venous Malformations.

Intramuscular venous malformations, often erroneously called "intramuscular hemangiomas," present to pediatric orthopaedic surgeons either as a differential diagnosis of tumor or as a cause of muscle pain. Treatment options include injection sclerotherapy or surgery. There is some literature to indicate that sclerotherapy can reduce pain, but little evidence on the effectiveness of surgery. The primary aim of this study was to evaluate the efficacy of surgical resection for intramuscular venous malformations, with a secondary aim to evaluate the natural history and presentation of intramuscular venous malformations to improve clinician understanding of this condition. A retrospective chart analysis was performed of cases identified from a vascular anomalies database from January 2004 and December 2018. Primary outcome was change in preoperative and postoperative pain. Natural history of the lesion was assessed, including age when the lesion was first noticed, when it became painful, and when it required treatment. Fifty-four cases were identified in the study period of which 40 underwent surgery. Pain improved in 36 of 39 patients (92.3%) who had pain before surgery and 29 (74.4%) were pain free after surgery. All 13 patients who required whole muscle excision to resect the lesion experienced an improvement in pain and 10 (76.9%) were pain free. A history of previous intervention, with surgery or sclerotherapy showed a trend towards less successful surgical outcomes. Patients presented across a wide age range from infancy to adulthood, but the most common presentation was pain with exercise between 9 and 16 years of age, with presence of a mass in about half of cases. Surgery, when performed by a surgeon with appropriate experience, is an effective first-line treatment for painful intramuscular venous malformations, offering pain relief in the majority of cases. Magnetic resonance imaging and ultrasound are diagnostic in most cases. The majority of lesions are resectable, meaning they can be removed with a margin leaving a functional limb. Sometimes resection of a whole muscle is required. Level IV-case series.

The Role of Interventional Radiologists in the Treatment of Congenital Lymphatic Malformations.

Lymphatic malformations are low-flow vascular malformations that are typically apparent in the pediatric population and can cause significant functional limitations and effects on quality of life. While surgical resection has historically been the mainstay of therapy, percutaneous sclerotherapy has garnered increasing popularity due to its efficacy and low complication rates. The role of interventional radiology in the multidisciplinary management of these often complex malformations requires thorough understanding of the disease process. This article will review the pathophysiology, clinical presentation, imaging workup, and management options of lymphatic malformations. Special attention will be devoted to available sclerosants, the mammalian target of rapamycin inhibitor sirolimus, and complex lymphatic anomalies.

Prenatal Diagnosis of Vein of Galen Aneurysmal Malformation Allows Early Transumbilical Endovascular Treatment

AbstractNeonates with vein of Galen aneurysmal malformation (VGAM) presenting with severe cardiac failure and pulmonary hypertension represent a challenge for endovascular therapy. When early treatment is required, the small femoral arteries in this population are usually difficult to cannulate. Alternatively, the umbilical vessels offer a natural pathway to reach the lesion. Therefore, prenatal diagnosis of VGAM allows for delivery planning, perinatal management, and embolization through umbilical approach, thus leading to better outcomes.

H- type tracheoesophageal fistula in a child presenting as recurrent cough

H-type of tracheoesophageal fistula (TEF) is a rare congenital malformation presenting during infancy with choking and recurrent pneumonia. We present a case of H-type TEF with intermittent nonspecific cough, diagnosed on oesophagogastroscopy and upper gastrointestinal contrast study. She was operated at the age of 30 months

Left Pulmonary Vein Thrombosis after Left Lower Lobectomy in a Case of Adulthood Type 2 Congenital Cystic Adenomatoid Malformation Presenting with Left Hemiparesis

AbstractPulmonary vein thrombosis (PVT) is a known complication after lung transplantation but has rarely been reported after lower lobectomy or bilobectomy. We report a case of a left PVT extending into left atrium along with left hemiparesis following an uneventful left lower lobectomy in a case of adult congenital cystic adenomatoid malformation type 2 (CCAM). CCAM being rare in adults further its association with PVT following lower lobectomy makes this case an unusual interesting case.

Facomatosis pigmentovascular cesioflammea asociada a epilepsia focal mioclónica: Primer caso reportado en el Perú

La facomatosis pigmentovascular es un síndrome congénito muy poco frecuente, caracterizado por la presentación simultánea de una malformación vascular capilar y una lesión cutánea pigmentaria, con o sin compromiso extracutáneo. Se presenta el caso de una adolescente con epilepsia que cursa con crisis mioclónicas focales no controladas por un tratamiento farmacológico irregular, y que muestra además lesiones cutáneas compatibles con nevus flammeus y melanosis dérmica, ocular y palatina, presentes desde el nacimiento. Se trata del primer reporte en el país, de un síndrome neurocutáneo poco frecuente y de su asociación clínica con epilepsia, resaltándose además la importancia de una evaluación integral de esta entidad.

Endovascular Embolization of a Previously Treated Renal Arteriovenous Malformation Presenting With Gross Hematuria

Renal arteriovenous shunts are direct communications between the supplying artery and draining vein without the presence of an intervening capillary bed. They can be traumatic or nontraumatic. Coils can be used for embolization of feeding arteries; however, they do not treat the nidus directly. We report a case in which proximal coil placement in feeding arteries led to recanalization of the renal AV shunt through collaterals, resulting in recurrent hematuria. The case was subsequently managed by embolizing the nidus by N-butyl 2-cyanoacrylate glue.

Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK

Biallelic mutations in TBC1-domain containing kinase (TBCK) lead to hypotonia, global developmental delay with severe cognitive and motor deficits, and variable presentation of dysmorphic facial features and brain malformations. It remains unclear whether hypotonia in these individuals is purely neurogenic, or also caused by progressive muscle disease. Whole exome sequencing was performed on a family diagnosed with nonspecific myopathic changes by means of histological analysis and immunohistochemistry of muscle biopsy samples. A novel homozygous truncation in TBCK was found in two sisters diagnosed with muscle disease and severe psychomotor delay. TBCK was completely absent in these patients. Our findings identify a novel early truncating variant in TBCK associated with a severe presentation and add muscle disease to the variability of phenotypes associated with TBCK mutations. Inconsistent genotype/phenotype correlation could be ascribed to the multiple roles of TBCK in intracellular signaling and endolysosomal function in different tissues.

Cerebral cavernous malformation presenting in childhood: a single-centered surgical experience of 29 cases

ObjectivesCerebral cavernous malformations (CMs) are benign vascular hamartomas of central nervous system. Although they are mostly asymptomatic, they may occasionally result in life-threatening complications leading to surgical treatment. The main goal is to evaluate the surgical outcomes of operated pediatric cerebral CMs in our clinic and compare our results with the literature. Patients and MethodsThe data of 29 pediatric patients who were operated for cerebral CMs in our clinic between 2007 and 2016 were collected. ResultsOf 29 patients, 13 were girls and 16 were boys, and the mean age at operation was 11.4 years (range from 2 to 17 years). Main symptoms at presentation were seizures (15 patients, 51.7 %), headache (12 patients, 41.3 %), and focal neurological deficits (4 patients, 13.7 %). The frequency of hemorrhage in CMs was significantly higher in younger patients (p = 0.019). Total excision was achieved in all patients. The mean follow-up period was 27.3 months (range from 12 to 97 months). New neurological deficit following surgery occurred in 1 patient (3.4 %) who completely recovered after 3 months. After surgery, 1 patient (3.4 %) has become free of preoperative deficit; while the rest (27 patients) remained in preoperative neurological status. Of 15 patients presented with seizures preoperatively, 10 patients (66.6 %) were seizure free (Engel Class 1), 4 (26.6 %) were “almost seizure free” (Engel Class 2) and one (6.6 %) experienced “worthwhile improvement” (Engel Class 3) at the last follow up visit. There was no mortality in our series. ConclusionAlthough management of cerebral CMs in childhood is controversial, total resection ensures good clinical outcome and seizure control. In addition, age can be a predisposing factor for hemorrhage.

Anorectal Malformations at a University Teaching Hospital in Southern Nigeria

Ano-rectal malformations comprise a wide spectrum of diseases, which can affect males and females, and involve the distal anus and rectum as well as the urinary and genital tracts. The incidence, type or variety of malformations varies from one region or geographical location to another. Ano-rectal anomalies tend to be associated with other congenital anomalies. The aim of this study is to determine the incidence, presentation and types of ano-rectal malformations and their treatment outcome. It is a prospective observational study from March 2012 to February 2019. Information obtained from cases of ano-rectal anomalies who presented to our health institution during the study period was entered into a proforma. Relevant clinical information was obtained and documented in a structured proforma. A total of 60 patients were seen during the study period. Males were 35 (58.3%) while females were 25 (41.7%). Age at presentation ranged from 2 hours -15 years. High anomalies were seen in 34 (56.7%), low anomalies 18 (30%) and intermediate 8 (13.3%). Associated congenital anomalies were seen in 12 (20%) patients. 28 patients had the traditional three-stage procedure of initial colostomy, PSARP and colostomy closure while 13 patients had double staged procedure of initial colostomy and definitive surgery with colostomy closure at the same time. Fifteen (15) patients had single staged procedure (PSARP) without an initial colostomy. Three (3) patients are awaiting colostomy closure after definitive surgery. Post-Operative complications were seen in 16 patients. A mortality of 10 (16.7%) was observed.

Anorectal Malformations at a University Teaching Hospital in Southern Nigeria

Ano-rectal malformations comprise a wide spectrum of diseases, which can affect males and females, and involve the distal anus and rectum as well as the urinary and genital tracts. The incidence, type or variety of malformations varies from one region or geographical location to another. Ano-rectal anomalies tend to be associated with other congenital anomalies. The aim of this study is to determine the incidence, presentation and types of ano-rectal malformations and their treatment outcome. It is a prospective observational study from March 2012 to February 2019. Information obtained from cases of ano-rectal anomalies who presented to our health institution during the study period was entered into a proforma. Relevant clinical information was obtained and documented in a structured proforma. A total of 60 patients were seen during the study period. Males were 35 (58.3%) while females were 25 (41.7%). Age at presentation ranged from 2 hours -15 years. High anomalies were seen in 34 (56.7%), low anomalies 18 (30%) and intermediate 8 (13.3%). Associated congenital anomalies were seen in 12 (20%) patients. 28 patients had the traditional three-stage procedure of initial colostomy, PSARP and colostomy closure while 13 patients had double staged procedure of initial colostomy and definitive surgery with colostomy closure at the same time. Fifteen (15) patients had single staged procedure (PSARP) without an initial colostomy. Three (3) patients are awaiting colostomy closure after definitive surgery. Post-Operative complications were seen in 16 patients. A mortality of 10 (16.7%) was observed.

Anorectal Malformations at a University Teaching Hospital in Southern Nigeria

Ano-rectal malformations comprise a wide spectrum of diseases, which can affect males and females, and involve the distal anus and rectum as well as the urinary and genital tracts. The incidence, type or variety of malformations varies from one region or geographical location to another. Ano-rectal anomalies tend to be associated with other congenital anomalies. The aim of this study is to determine the incidence, presentation and types of ano-rectal malformations and their treatment outcome. It is a prospective observational study from March 2012 to February 2019. Information obtained from cases of ano-rectal anomalies who presented to our health institution during the study period was entered into a proforma. Relevant clinical information was obtained and documented in a structured proforma. A total of 60 patients were seen during the study period. Males were 35 (58.3%) while females were 25 (41.7%). Age at presentation ranged from 2 hours -15 years. High anomalies were seen in 34 (56.7%), low anomalies 18 (30%) and intermediate 8 (13.3%). Associated congenital anomalies were seen in 12 (20%) patients. 28 patients had the traditional three-stage procedure of initial colostomy, PSARP and colostomy closure while 13 patients had double staged procedure of initial colostomy and definitive surgery with colostomy closure at the same time. Fifteen (15) patients had single staged procedure (PSARP) without an initial colostomy. Three (3) patients are awaiting colostomy closure after definitive surgery. Post-Operative complications were seen in 16 patients. A mortality of 10 (16.7%) was observed.

Anorectal Malformations at a University Teaching Hospital in Southern Nigeria

Ano-rectal malformations comprise a wide spectrum of diseases, which can affect males and females, and involve the distal anus and rectum as well as the urinary and genital tracts. The incidence, type or variety of malformations varies from one region or geographical location to another. Ano-rectal anomalies tend to be associated with other congenital anomalies. The aim of this study is to determine the incidence, presentation and types of ano-rectal malformations and their treatment outcome. It is a prospective observational study from March 2012 to February 2019. Information obtained from cases of ano-rectal anomalies who presented to our health institution during the study period was entered into a proforma. Relevant clinical information was obtained and documented in a structured proforma. A total of 60 patients were seen during the study period. Males were 35 (58.3%) while females were 25 (41.7%). Age at presentation ranged from 2 hours -15 years. High anomalies were seen in 34 (56.7%), low anomalies 18 (30%) and intermediate 8 (13.3%). Associated congenital anomalies were seen in 12 (20%) patients. 28 patients had the traditional three-stage procedure of initial colostomy, PSARP and colostomy closure while 13 patients had double staged procedure of initial colostomy and definitive surgery with colostomy closure at the same time. Fifteen (15) patients had single staged procedure (PSARP) without an initial colostomy. Three (3) patients are awaiting colostomy closure after definitive surgery. Post-Operative complications were seen in 16 patients. A mortality of 10 (16.7%) was observed.

Anorectal Malformations at a University Teaching Hospital in Southern Nigeria

Ano-rectal malformations comprise a wide spectrum of diseases, which can affect males and females, and involve the distal anus and rectum as well as the urinary and genital tracts. The incidence, type or variety of malformations varies from one region or geographical location to another. Ano-rectal anomalies tend to be associated with other congenital anomalies. The aim of this study is to determine the incidence, presentation and types of ano-rectal malformations and their treatment outcome. It is a prospective observational study from March 2012 to February 2019. Information obtained from cases of ano-rectal anomalies who presented to our health institution during the study period was entered into a proforma. Relevant clinical information was obtained and documented in a structured proforma. A total of 60 patients were seen during the study period. Males were 35 (58.3%) while females were 25 (41.7%). Age at presentation ranged from 2 hours -15 years. High anomalies were seen in 34 (56.7%), low anomalies 18 (30%) and intermediate 8 (13.3%). Associated congenital anomalies were seen in 12 (20%) patients. 28 patients had the traditional three-stage procedure of initial colostomy, PSARP and colostomy closure while 13 patients had double staged procedure of initial colostomy and definitive surgery with colostomy closure at the same time. Fifteen (15) patients had single staged procedure (PSARP) without an initial colostomy. Three (3) patients are awaiting colostomy closure after definitive surgery. Post-Operative complications were seen in 16 patients. A mortality of 10 (16.7%) was observed.

Arteriovenous malformation presenting with epilepsy: a multimodal approach to diagnosis and treatment.

Arteriovenous malformation (AVM) presenting with epilepsy significantly impacts patient quality of life, and it should be considered very much a seizure disorder. Although hemorrhage prevention is the primary treatment aim of AVM surgery, seizure control should also be at the forefront of therapeutic management. Several hemodynamic and morphological characteristics of AVM have been identified to be associated with seizure presentation. This includes increased AVM flow, presence of long pial draining vein, venous outflow obstruction, and frontotemporal location, among other aspects. With the advent of high-throughput image processing and quantification methods, new radiographic attributes of AVM-related epilepsy have been identified. With respect to therapy, several treatment approaches are available, including conservative management or interventional modalities; this includes microsurgery, radiosurgery, and embolization or a combination thereof. Many studies, especially in the domain of microsurgery and radiosurgery, evaluate both techniques with respect to seizure outcomes. The advantage of microsurgery lies in superior AVM obliteration rates and swift seizure response. In addition, by incorporating electrophysiological monitoring during AVM resection, adjacent or even remote epileptogenic foci can be identified, leading to extended lesionectomy and improved seizure control. Radiosurgery, despite resulting in reduced AVM obliteration and prolonged time to seizure freedom, avoids the risks of surgery altogether and may provide seizure control through various antiepileptic mechanisms. Embolization continues to be used as an adjuvant for both microsurgery and radiosurgery. In this study, the authors review the latest imaging techniques in characterizing AVM-related epilepsy, in addition to reviewing each treatment modality.

Abstract TMP119: Incidence, Presentation and Outcomes of Brain Arteriovenous Malformations in Adult Population in United States

Background: Data regarding national estimates of brain arteriovenous malformation (BAVM) among adults in United States data are scant, often biased by limitations of single center and regional studies. Identification of such patients in nationally representative datasets was not possible until recently due to a new specific ICD-10 code. Objective: To characterize inpatient burden, expenditures, associated comorbidities (including intracerebral hemorrhages and seizures) and treatments of BAVM among adults in United States. Methods: Patients with BAVM were identified from the Nationwide Inpatient Sample (NIS) database for the year 2016 using ICD-10 diagnostic code (Q28.2). The primary outcome was to determine the prevalence of BAVM in the adult (18 and above) in-patient population in the United States. Secondary outcomes included determining inpatient mortality, morbidity, comorbidities, hospital length of stay (LOS) and total hospital charges. Outcome was classified by discharge disposition into none to minimal and moderate to severe disability. Results: Of the total 7,135,090 reported hospital discharges in 2016, an estimated 1733 (0.02%) had the diagnosis of BAVM; 1547 were adults with ages 18 or greater (mean age [SD] 54 (18); 783 (50.6%) were men). Patients with BAVM were whites (n= 921, 59.5%), African-Americans (n=224, 14.4%) and Hispanic (n=212, 13.7%). Underlying hypertension was identified in 677 (43.1%) patients. Clinical presentation was intracerebral hemorrhage (n=260, 16.8%), seizures (n=234, 15.1%) and subarachnoid hemorrhage (n=75, 4.8%). Endovascular treatment was performed in 272 (17.5%) patients and surgical treatment was performed in 45 (2.9%) patients. None to minimal disability was seen in 1023 (66.1%) and moderate to severe disability was seen in 469 (30.3%) of the patients. In hospital mortality was 2.59% (n=40). Average LOS (SD) was 4 days (8.6) with mean hospitalization charges (SD) of $121,186 (153553.1). Conclusion: There are 1547 hospital admissions for BAVM among adults in United States every year. The overall outcomes were good with high rates of none to minimal disability but the hospitalization charges were higher than expected and may be important for resource allocation.

Clinical and angioarchitectural characteristics of spinal vascular malformations of the cervical spine.

Vascular malformations of the cervical spine are exceedingly rare. To date there have been no large case series describing the clinical presentation and angioarchitectural characteristics of cervical spine vascular malformations. The authors report their institutional case series on cervical spine vascular malformations diagnosed and treated at their institution. The authors retrospectively reviewed all patients with spinal vascular malformations from their institution from January 2001 to December 2018. Patients with vascular malformations of the cervical spine were included. Lesions were characterized by their angioarchitectural characteristics by an interventional neuroradiologist and endovascular neurosurgeon. Data were collected on clinical presentation, imaging findings, treatment outcomes, and long-term follow-up. Descriptive statistics are reported. Of a total of 213 patients with spinal vascular malformations, 27 (12.7%) had vascular malformations in the cervical spine. The mean patient age was 46.1 ± 21.9 years and 16 (59.3%) were male. The most common presentations were lower-extremity weakness (13 patients, 48.1%), tetraparesis (8 patients, 29.6%), and lower-extremity sensory dysfunction (7 patients, 25.9%). Nine patients (33.3%) presented with hemorrhage. Fifteen patients (55.6%) had modified Rankin Scale scores of 0-2 at the time of diagnosis. Regarding angioarchitectural characteristics, 8 patients (29.6%) had intramedullary arteriovenous malformations (AVMs), 5 (18.5%) had epidural arteriovenous fistulas (AVFs), 4 (14.8%) had paraspinal fistulas, 4 (14.8%) had mixed epidural/intradural fistulas, 3 (11.1%) had perimedullary AVMs, 2 (7.4%) had dural fistulas, and 1 patient (3.7%) had a perimedullary AVF. This retrospective study of 27 patients with cervical spine vascular malformations is the largest series to date on these lesions. The authors found substantial angioarchitectural heterogeneity with the most common types being intramedullary AVMs followed by epidural AVFs, paraspinal fistulas, and mixed intradural/extradural fistulas. Angioarchitecture dictated the clinical presentation as intradural shunts were more likely to present with hemorrhage and acute onset myelopathy, while dural and extradural shunts presented as either incidental lesions or gradually progressive congestive myelopathy.

Peripelvic Lymphatic Malformation Presenting With Gross Hematuria and Renal Colic: A Case Report

Renal lymphangectasia is a benign malformation of the lymphatics which can be perirenal or peripelvic in location. Diagnosis is made on imaging including ultrasound, computed tomography , or MRI. We present an unusual case of renal lymphangectasia presenting with gross hematuria and flank pain diagnosed on computed tomography.

Deossification of the Otic Bone in High Pressure CSF Otorhinorrhea: A New Radiological Finding.

To highlight a new radiological feature in a patient with labyrinthine malformation presenting with bilateral spontaneous high pressure cerebrospinal fluid (CSF) otorhinorrhea. Study design-retrospective case review. Setting-academic, tertiary cochlear implant center. A cochlear implantee with Incomplete Partition Defect (Type 1) presented with meningitis and CSF otorhinorrhea for which she initially underwent medical treatment. High resolution computed tomography (HRCT) of the temporal bone with CT cisternography was performed for identifying the site of the CSF leak. HRCT and CT cisternography revealed a defect in the region of the stapes foot plate and marked thinning/deossification of the cochlear promontory. These two findings were absent in the pre-implant imaging of the patient done 3years ago. Surgery by endaural approach was undertaken to close the site of CSF leak. Intraoperatively, marked thinning of the cochlear promontory was observed, corresponding to 'blue lining' of the labyrinth in otologic surgery. This intraoperative finding indicating high intralabyrinthine CSF pressure correlated well with the imaging findings. Primary surgical repair resulted in successful CSF leak closure followed by theco-peritoneal shunting to prevent recurrence of the leak. The patient is using her cochlear implant and doing well with auditory verbal therapy. She is asymptomatic till date. Thinning and deossification of the otic capsule on HRCT is an important indicator of high CSF pressure in patients with labyrinthine malformations. Our case study highlights the need for heightened radiological and clinical vigilance in this subgroup of patients to predict complications and ensure prompt intervention.