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MBBS, MD (Pathology),
Sanjay Gandhi institute of trauma and orthopedics,
Bengaluru.
On Aug 2018




Dr. Mamta Gupta,
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Dr. Mamta Gupta
Consultant
(Ex HOD Obs &Gynae, Hindu Rao Hospital and associated NDMC Medical College, Delhi)
Aug 2018




Dr. Rajendra Kumar Ghritlaharey

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Salient features of the JCDR: It is a biomedical, multidisciplinary (including all medical and dental specialities), e-journal, with wide scope and extensive author support. At the same time, a free text of manuscript is available in HTML and PDF format. There is fast growing authorship and readership with JCDR as this can be judged by the number of articles published in it i e; in Feb 2007 of its first issue, it contained 5 articles only, and now in its recent volume published in April 2011, it contained 67 manuscripts. This e-journal is fulfilling the commitments and objectives sincerely, (as stated by Editor-in-chief in his preface to first edition) i e; to encourage physicians through the internet, especially from the developing countries who witness a spectrum of disease and acquire a wealth of knowledge to publish their experiences to benefit the medical community in patients care. I also feel that many of us have work of substance, newer ideas, adequate clinical materials but poor in medical writing and hesitation to submit the work and need help. JCDR provides authors help in this regards.
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Thanking you
With sincere regards
Dr. Rajendra Kumar Ghritlaharey, M.S., M. Ch., FAIS
Associate Professor,
Department of Paediatric Surgery, Gandhi Medical College & Associated
Kamla Nehru & Hamidia Hospitals Bhopal, Madhya Pradesh 462 001 (India)
E-mail: drrajendrak1@rediffmail.com
On May 11,2011




Dr. Shankar P.R.

"On looking back through my Gmail archives after being requested by the journal to write a short editorial about my experiences of publishing with the Journal of Clinical and Diagnostic Research (JCDR), I came across an e-mail from Dr. Hemant Jain, Editor, in March 2007, which introduced the new electronic journal. The main features of the journal which were outlined in the e-mail were extensive author support, cash rewards, the peer review process, and other salient features of the journal.
Over a span of over four years, we (I and my colleagues) have published around 25 articles in the journal. In this editorial, I plan to briefly discuss my experiences of publishing with JCDR and the strengths of the journal and to finally address the areas for improvement.
My experiences of publishing with JCDR: Overall, my experiences of publishing withJCDR have been positive. The best point about the journal is that it responds to queries from the author. This may seem to be simple and not too much to ask for, but unfortunately, many journals in the subcontinent and from many developing countries do not respond or they respond with a long delay to the queries from the authors 1. The reasons could be many, including lack of optimal secretarial and other support. Another problem with many journals is the slowness of the review process. Editorial processing and peer review can take anywhere between a year to two years with some journals. Also, some journals do not keep the contributors informed about the progress of the review process. Due to the long review process, the articles can lose their relevance and topicality. A major benefit with JCDR is the timeliness and promptness of its response. In Dr Jain's e-mail which was sent to me in 2007, before the introduction of the Pre-publishing system, he had stated that he had received my submission and that he would get back to me within seven days and he did!
Most of the manuscripts are published within 3 to 4 months of their submission if they are found to be suitable after the review process. JCDR is published bimonthly and the accepted articles were usually published in the next issue. Recently, due to the increased volume of the submissions, the review process has become slower and it ?? Section can take from 4 to 6 months for the articles to be reviewed. The journal has an extensive author support system and it has recently introduced a paid expedited review process. The journal also mentions the average time for processing the manuscript under different submission systems - regular submission and expedited review.
Strengths of the journal: The journal has an online first facility in which the accepted manuscripts may be published on the website before being included in a regular issue of the journal. This cuts down the time between their acceptance and the publication. The journal is indexed in many databases, though not in PubMed. The editorial board should now take steps to index the journal in PubMed. The journal has a system of notifying readers through e-mail when a new issue is released. Also, the articles are available in both the HTML and the PDF formats. I especially like the new and colorful page format of the journal. Also, the access statistics of the articles are available. The prepublication and the manuscript tracking system are also helpful for the authors.
Areas for improvement: In certain cases, I felt that the peer review process of the manuscripts was not up to international standards and that it should be strengthened. Also, the number of manuscripts in an issue is high and it may be difficult for readers to go through all of them. The journal can consider tightening of the peer review process and increasing the quality standards for the acceptance of the manuscripts. I faced occasional problems with the online manuscript submission (Pre-publishing) system, which have to be addressed.
Overall, the publishing process with JCDR has been smooth, quick and relatively hassle free and I can recommend other authors to consider the journal as an outlet for their work."



Dr. P. Ravi Shankar
KIST Medical College, P.O. Box 14142, Kathmandu, Nepal.
E-mail: ravi.dr.shankar@gmail.com
On April 2011
Anuradha

Dear team JCDR, I would like to thank you for the very professional and polite service provided by everyone at JCDR. While i have been in the field of writing and editing for sometime, this has been my first attempt in publishing a scientific paper.Thank you for hand-holding me through the process.


Dr. Anuradha
E-mail: anuradha2nittur@gmail.com
On Jan 2020

Important Notice

Case Series
Year : 2023 | Month : January | Volume : 17 | Issue : 1 | Page : SR04 - SR07 Full Version

Vascular Malformations in Paediatric Age Group: Learning through Mistakes


Published: January 1, 2023 | DOI: https://doi.org/10.7860/JCDR/2023/56293.17278
Sushanta Bhanja, Sunetra Roy, Dafodil Ghatak, Ananya Mondal

1. Assistant Professor, Department of Paediatrics, Jagannath Gupta Institute of Medical Sciences, Kolkata, West Bengal, India. 2. Senior Resident, Department of Paediatrics, Jagannath Gupta Institute of Medical Sciences, Kolkata, West Bengal, India. 3. Senior Resident, Department of Paediatrics, Jagannath Gupta Institute of Medical Sciences, Kolkata, West Bengal, India. 4. Senior Resident, Department of Radiodiagnosis, Jagannath Gupta Institute of Medical Sciences, Kolkata, West Bengal, India.

Correspondence Address :
Dr. Sushanta Bhanja,
123/8/7 GLT Road, Alambazar, Baranagar, Kolkata, West Bengal, India.
E-mail: drsushantabhanja@gmail.com

Abstract

Vascular malformations were known in all paediatric age groups including neonates to adolescence. These were known since very long time. Many such cases were missed earlier due to lack of diagnostic imaging techniques. Proper diagnosis of such lesions is very challenging. So, proper identification and early treatment is of utmost importance. Any misdiagnosis can lead to inappropriate management and outcome. With recent advances in imaging techniques and better interventional facilities, the rate of diagnosis has improved but still the rate of misdiagnosis remains high. Though the newer treatment modalities are available, but their availability is restricted to tertiary care multifacility hospitals. Therefore, even after proper diagnosis, the management remains inadequate. This series is about three different patients of vascular malformations, belonging to different paediatric age groups. The clinical presentations, diagnosis and management were varied but diagnosis was possible due to high level of clinical suspicion and modern imaging techniques. The first patient initially seemed to have a post-traumatic swelling or juvenile idiopathic arthritis, but was later diagnosed as peripheral vascular malformation. The second patient was suspected to have haemangioma, but final diagnosis based on radiographical findings revealed low flow vascular malformation of face. The third patient was diagnosed with vascular malformation of head, but was clinically thought to be a sebaceous cyst.

Keywords

Management protocols, Misdiagnosis, Newer diagnostic imaging, Sebaceous cyst

Vascular malformations occur due to error in morphogenesis of arterial, venous and lymphatic vascular channels in any combinations. They are present since birth and increases in size with growth of the child without showing any tendency to involute spontaneously (1). About 60% of paediatric vascular malformations are found in head and neck region (2). Epidemiological data of vascular malformations remains a confusing entity through decades. To have correct incidence and prevalence data of vascular malformations, one need to have more accurate and elaborate classification (3). The natural history of arteriovenous malformation is uncertain, as few resolve on their own and few lead to severe complications. Paediatric vascular malformations have higher rate of rupture, and are majorly diagnosed after rupture (4). The classification is complex and treatment remains controversial (5). Peripheral vascular malformations can have intraarticular and intraosseous extensions that would pose greater therapeutic challenges (6). Several classification systems have been proposed. But few are clinically significant. The Milliken and Glowacki classification (1982) differentiated vascular anomalies into haemangiomas and vascular malformations, based on endothelial characteristics. The classification by the International Society for the Study of Vascular Anomalies (ISSVA) is widely accepted (1). Vascular anomalies can be high flow or low flow (7).

A variety of imaging techniques are available. Most commonly used are doppler Ultrasonography (USG) and Magnetic Resonance Imaging (MRI). The doppler ultrasound should be the initial imaging modality for recognising vascular tumours from vascular malformations. Computed Tomography (CT) and MRI are the best imaging modality for evaluation of extent of the lesion prior to treatment and also for follow-up (6). This helps to evaluate the nature, extent and complexity of the malformations and this helps to plan appropriate treatment (6). The treatment requires multidisciplinary approach. The first line therapy should include image guided percutaneous and interventional treatment (Table/Fig 1).

After procedure, immediate clinical monitoring is recommended. Imaging studies such as colour Doppler USG, contrast CT and MRI are used for assessing immediate results and long-term management (6). This article is about three different patients of vascular malformations, belonging to different paediatric age groups.

Case Report

Case 1

A 13-year-old girl was admitted with complaints of gradually progressive swelling over the left thigh just above the left knee joint along with mild pain, since last six months. The swelling was present in the anterolateral side of lower aspect of thigh above the knee joint. There was a history of blunt trauma over the affected region due to fall from cycle, about six years back. Immediately there was pain which was treated with some analgesics. Gradually swelling appeared with occasional pain, especially during exercise. No joint swelling and deformity were noted. None of the other joints in the body were involved. Joint mobility was not restricted. Range of movement of left knee joint was within normal limit. There was no history of spontaneous bleeding from any site.

On physical examination, vital signs were stable. The swelling was 10×10 cm, soft, having smooth surface, mildly tender with restricted mobility (Table/Fig 2). There were no fluctuations, pulsatility or bruit over the swelling. There were no systemic abnormalities like fever, rash, lymphadenopathy, etc. The musculoskeletal and neurological examinations were also normal. X-ray left knee joint did not show any fracture (Table/Fig 3). USG of left knee joint did not show any haematoma or abscess. It suggested some altered echogenicity in the vastus lateralis muscle. The inflammatory markers like C-Reactive Protein (CRP), Antinuclear Antibodies (ANA), Rheumatoid Arthritis (RA) factor were all within normal limit. MRI left thigh with contrast revealed altered high intensity area noted in the caudal part of vastus lateralis muscle, showing multiple tortuous T2 hyperintense channels. Multiple hypointense flow voids were also noted within the lesion. Lesion showed communication with the superficial subcutaneous vascular channels. Contrast study showed enhancement with interspersed flow voids. Features were suggestive of arteriovenous malformations (Table/Fig 4). Digital Subtraction Angiography (DSA) was performed which showed low flow vascular lesion (Table/Fig 5). The child was referred for vascular surgery to a higher centre.

Case 2

A two-month-old girl presented with swelling over the right cheek for six weeks (Table/Fig 6).The swelling was not apparent at birth. It was an isolated swelling which gradually increased in size. The birth history and developmental history was uneventful. No similar birth lesion was present in the family members. The child was asymptomatic. The size of the swelling was about 1.5×3 cm. The margins were not well defined. It was soft and cystic in nature, but was non compressible. There was no pulsation over the swelling. Overlying skin was healthy, it was not associated with fever, any tenderness or any trauma. The provisional diagnosis was haemangioma. USG with Doppler study of right cheek showed a low flow arteriovenous malformation (Table/Fig 7). The child was advised surgery and referred to Cardiothoracic and Vascular Surgery (CTVS) department for further management.

Case 3

A five-year-old boy presented with complaint of swelling over the left-side of the scalp above the ear, associated with mild itching. The swelling was slowly progressive since birth, and was without any tenderness (Table/Fig 8). On examination, the size of the swelling was 3×5 cm. It was mildly compressible but non pulsatile. The child did not have any such similar lesion in any other part of body. The child did not had any symptoms suggestive of any intracranial lesion (no convulsion, hemiparesis). The child also did not have any facial dysmorphism or stridor or any bleeding manifestations. It was not associated with any systemic features like fever or any other swelling in the body. It was suspected to be a lipoma/ dermoid/sebaceous cyst/simple cyst.

DSA was done which revealed a low flow vascular malformation (Table/Fig 9). It was treated surgically by endovascular embolisation, followed by excision done under general anaesthesia (Table/Fig 10). The child recovered uneventfully after surgery and was discharged with conservative management.

Discussion

Vascular anomalies broadly fall into two categories: a) vascular tumour, (b) vascular malformations. Vascular tumours include Infantile Haemangioma (IH), Congenital Haemangioma (CH), Kaposiform Haemangioendothelioma (KH). IH is most common among them. The management of vascular tumours mainly includes conservative approaches, oral medications and surgical intervention depending on their type, location and associated complications. The main treatment options for vascular malformations are endovascular or surgical obliteration (2),(8). If a vascular lesion is wrongly diagnosed then it can lead to wrong management and thus lead to complications like massive bleeding.

The above three cases of vascular malformations were seen in children of different age groups ranging from infant to adolescent. Though they can be present since birth, these gradually become apparent as the size increases with age (2). In this series, two out of three patients had involvement of the head and neck region (1). As per literature, majority of vascular malformations are detected only after rupture causing bleeding symptoms (2). Fortunately, in this series, all of them were detected early and properly identified with the help of appropriate imaging technique. An early diagnosis prevented them from serious complications like bleeding. The symptoms and imaging appearances can be complicated which can further complicate the diagnosis. Thus, from this series it can be seen that a vascular malformation can be wrongly diagnosed as vascular tumours (IH, CH, KH), complicated arthritis Juvenile Idiopathic Arthritis (JIA), traumatic or infective lesions (abscess, cyst, haematoma etc.,) or muscular or bony tumours (sarcomas etc.,). Many such misdiagnosed cases even received management of JIA with steroids, methotrexate.

The complications of vascular malformations depend on the location like overgrowth of limbs, disfigurement especially of facial areas, pain, respiratory difficulty, dysphagia if lesions are inside organ systems, bleeding (internal or external) (9). Complications may also arise after surgical treatment. The prognosis of vascular malformations also depends on its type, location, time of presentations. Many such lesion have very good prognosis if treated at earliest. However, malformations present near vital organs like brain have high propensity to bleed, cause ischaemic brain injury, seizures etc., with a high mortality rates of about 10% (10). Complications of cerebral AVM include strokes, intracerebral haemorrhages (9% of subarachnoid haemorrhages are due to AVM), unprovoked seizure, headaches and even brain abscess (11). Even pulmonary AVM leads to CNS complications (stroke or brain abscess). A 70%of patients of pulmonary AVM had neurological complications. Even death can occur as a result of such complications. These can also lead to severe hypoxia (12). Newer developments in diagnostic modalities and high-end interventional procedures have made the management easy thus reducing potentially serious complications (6).

Conclusion

In all the above cases, the initial impression appeared to be different from the actual diagnosis. A multicentric approach was made to establish the correct diagnosis and define accordingly the appropriate treatment and follow-up. Vascular malformations may be misdiagnosed unless modern imaging techniques are used. Vascular malformations of knee can mimic JIA. Similarity, of the two in clinical presentation and imaging finding can be confusing and may lead to misdiagnosis. Here, in this case series, the initial diagnosis was very different from the actual diagnosis made later. Ultimately with the help of modern imaging techniques we were able to diagnose and treat them appropriately. Peripheral vascular malformations are rare but they form an important spectrum of abnormalities. Identification of these lesions can be challenging. Clinical suspicion and good radiological and interventional backup are needed for accurate diagnosis and management.

References

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Tasnàdi G. Epidemiology of vascular malformations. In: Mattassi R, Loose DA, Vaghi M. (eds) Hemangiomas and Vascular Malformations. Springer, Milano. 2009.
2.
Mahady K, Thust S, Berkeley R, Stuart S, Barnacle A, Robertson F, et al., Vascular anomalies of head and neck in children. Quant Imaging Med Surg. 2015;5(6):886-97.
3.
Lee BB, Laredo J, Neville RF, Kim YW, Do YS. Epidemiology of Vascular Malformations. In: Mattassi R, Loose D, Vaghi, M. (eds) Hemangiomas and Vascular Malformations. Springer, Milano. 2015. [crossref]
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El-Ghanem M, Kass-Hout T, Kass-Hout O, Alderazi Y J, Amuluru K, b Al-MuftiF, et al. Arteriovenous malformations in the paediatric population: Review of the existing literature. Interv Neurol. 2016;5(3-4):218-25. [crossref] [PubMed]
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Ciricillo SF, Cogen PH, Edwards MSB. Paediatr cryptic vascular malformations; Presentation, diagnosis and treatment. Paediatr Neurosurgery. 1994;20(2):137- 47. [crossref] [PubMed]
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Madani H, Farrant J, Holloway B. Peripheral limb vascular malformations: An update of appropriate imaging and treatment options of a challenging conditions. The Br J Radiol. 2015;88(1047):2140406. [crossref] [PubMed]
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Cahill AM, Nijs Els LF. Paediatrvascular malformations: Pathophysiology, diagnosis and the role of interventional radiology. Cardiovascular and Interventional Radiology. 2011;34(4),691-04. [crossref] [PubMed]
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Liu AS, Mulliken JB, Zurakowski D, Fishman SJ, Greene AK. Extracranial arteriovenous malformations: Natural progression and recurrence after treatment. Plast Reconstr Surg. 2010;125:1185-94. [crossref] [PubMed]
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Glade RS, Richter GT, James CA, Suen JY, Buckmiller LM. Diagnosis and management of paediatriccervico- facial venous malformations: Retrospective review from a vascular anomalies centre. The Laryngoscope. 2010;120(2):229-35. [crossref] [PubMed]
10.
Hoh VL, Ogylvy CS, Butler WE, Loffler JS, Putman CM, Chapman PH, et al. Multimodality treatment of non-galenic arteriovenous malformations in paediatric patients. Neurosurgery. 2000;47(2):346-58. [crossref] [PubMed]
11.
Al-Shahi R, Warlow C. A systematic review of the frequency and prognosis of arteriovenous malformations of the brain in adults. Brain. 2001;124(10):1900-26. [crossref] [PubMed]
12.
Faughnan ME, Lui YW, Wirth JA, Pugash RA, Redelmeier DA, Hyland RH, et al. Diffuse pulmonary arteriovenous malformations: Characteristics and prognosis. Chest. 2000;117(1):31-38. [crossref] [PubMed]

DOI and Others

DOI: 10.7860/JCDR/2023/56293.17278

Date of Submission: Mar 12, 2022
Date of Peer Review: Mar 30, 2022
Date of Acceptance: Dec 06, 2022
Date of Publishing: Jan 01, 2023

AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. Yes

PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Mar 20, 2022
• Manual Googling: Nov 28, 2022
• iThenticate Software: Dec 03, 2022 (9%)

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  • Google Scholar
  • HINARI Access to Research in Health Programme
  • Indian Science Abstracts (ISA)
  • Journal seek Database
  • Google
  • Popline (reproductive health literature)
  • www.omnimedicalsearch.com