scholarly journals Fibro Adipose Vascular Anomaly: A Rare and Often Misdiagnosed Entity

2021 ◽  
Vol 31 (03) ◽  
pp. 776-781
Author(s):  
Pushpinder S. Khera ◽  
Pawan K. Garg ◽  
Santhosh Babu ◽  
Poonam Elhence ◽  
Sarbesh Tiwari ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Clinical Features ◽  
Vascular Malformation ◽  
Treatment Options ◽  
Vascular Anomaly ◽  
Malignant Potential ◽  
Illustrative Case ◽  
Rare Type ◽  
Clinical Imaging ◽  
Benign Condition

AbstractFibro adipose vascular anomaly (FAVA) is a rare type of vascular malformation with distinct clinical features. The authors here discussed the clinical, imaging, differential diagnosis, histopathological features, and treatment options of FAVA along with an illustrative case. It is important to know about this uncommon entity as this can be misdiagnosed due to the overlapping clinical features with other common entities. It is a benign condition with no proven malignant potential. There are no guidelines regarding the best treatment option.

scholarly journals Postural orthostatic tachycardia syndrome in primary care: diagnosis, treatment and a case of African-American man presenting with POTS

2019 ◽  
Vol 12 (9) ◽  
pp. e229824
Author(s):  
Andrew T Del Pozzi ◽  
Michael Enechukwu ◽  
Svetlana Blitshteyn
Keyword(s):  
Heart Rate ◽  
Differential Diagnosis ◽  
African American ◽  
Clinical Features ◽  
Orthostatic Intolerance ◽  
Treatment Options ◽  
Postural Orthostatic Tachycardia Syndrome ◽  
Tilt Table Test ◽  
Tilt Table ◽  
Caucasian Women

Postural orthostatic tachycardia syndrome (POTS) is a heterogeneous autonomic disorder characterised by orthostatic intolerance and a rise in heart rate by at least 30 bpm or an absolute heart rate value of at least 120 bpm within 10 min of standing or during a tilt table test. Overwhelmingly, POTS affects young Caucasian women, which can lead physicians to miss the diagnosis in men or non-white patients. We describe a case of 29-year-old African-American man who developed lightheadedness, generalised weakness, tachycardia and palpitations and was subsequently diagnosed with POTS. We review its clinical features, differential diagnosis, pathophysiology and treatment options. We also emphasise that POTS should be considered as a differential diagnosis in any patient presenting with typical clinical features, who may not be in the usual demographics of the disorder.

scholarly journals Frontal brain cavernoma in a 14-year-old boy: Differential diagnosis of secondary headache

2020 ◽  
pp. 95-97
Author(s):  
Eduardo de Almeida Guimarães Nogueira ◽  
Marcos Vinicius de Queiroz ◽  
Philipe Rachas Saccab ◽  
Marcelo Motta Zanatelli
Keyword(s):  
Differential Diagnosis ◽  
Vascular Anomaly ◽  
Secondary Headache ◽  
Neurological Manifestations ◽  
Rare Type ◽  
Frontal Brain

Cavernoma consists of a rare type of vascular anomaly that can present with different neurological manifestations. This article reports a case of cavernoma in a 14-year-old boy, whose first symptom was headache

Vascular malformation of the internal auditory canal

1993 ◽  
Vol 107 (11) ◽  
pp. 1039-1042 ◽  
Author(s):  
Essam Saleh ◽  
Maged Naguib ◽  
Alessandra Russo ◽  
Abdel Kader Taibah ◽  
Mario Sanna
Keyword(s):  
Differential Diagnosis ◽  
Clinical Features ◽  
Vascular Malformation ◽  
Vascular Malformations ◽  
Internal Auditory Canal ◽  
Radiological Diagnosis ◽  
Review Of The Literature ◽  
Diagnosis And Management ◽  
Rare Lesion ◽  
Made In

AbstractA report of a case with a vascular malformation of the internal auditory canal (IAC) is presented. A review of the literature of this rather rare lesion is also made in an attempt to outline its clinical features, radiological diagnosis and management. The differential diagnosis and distinction between vascular malformations and other internal auditory canal tumours are discussed.

Venous malformation and haemangioma: differential diagnosis, diagnosis, natural history and consequences

2013 ◽  
Vol 28 (1_suppl) ◽  
pp. 176-187 ◽  
Author(s):  
B B Lee
Keyword(s):  
Differential Diagnosis ◽  
Vascular Malformation ◽  
Venous Malformation ◽  
Vascular Anomaly ◽  
Growth Cycle ◽  
The Body ◽  
Non Invasive ◽  
Congenital Vascular Malformation ◽  
Vascular Defect ◽  
Work Up

Venous malformation (VM) is the most common form of congenital vascular malformation (CVM). VM presents at birth as an inborn vascular defect and never disappears/regresses spontaneously through the rest of life; it will continue to grow slowly at a rate that is proportional to the growth rate of the body. Haemangioma is not a vascular malformation but one of the vascular tumours originating from the endothelial cells; it develops after birth mostly in the infantile/neonatal period with a distinctive growth cycle: a proliferation phase of early rapid growth followed by an involutional phase of slow regression. Although the vascular malformation and vascular tumour belong to the ‘vascular anomaly’ together, both conditions are fundamentally different not only in their anatomical, histological and pathophysiological findings but also in their clinical courses. Therefore, an appropriate differential diagnosis of the VM is mandated not only from other kinds of CVMs but also from ‘genuine’ haemangioma. Appropriate diagnosis and assessment of VMs can be made based on clinical presentation and a proper combination of basic non-invasive studies in general but the presence of a mixed lesion involving other types of CVM lesions and the type of VM lesion, extratruncular and truncular, will dictate the need for further work-up with additional non- to less-invasive study or angiography. Otherwise, angiography is usually reserved for therapeutic planning and treatment.

Eyelid Ptosis

2019 ◽  
pp. 175-180
Author(s):  
Matthew J. Thurtell ◽  
Robert L. Tomsak
Keyword(s):  
Differential Diagnosis ◽  
Clinical Practice ◽  
Clinical Features ◽  
Contact Lenses ◽  
Treatment Options ◽  
Connective Tissues ◽  
Upper Eyelid ◽  
Common Causes ◽  
Upper Eyelid Ptosis

Upper-eyelid ptosis is frequently encountered in clinical practice but has a broad differential diagnosis. It can produce visual symptoms when the pupil is encroached by the upper eyelid. In this chapter, we begin by reviewing the clinical features that help with localization of the lesion responsible for upper-eyelid ptosis. We next describe the components of the eyelid examination that help to quantify and characterize upper-eyelid ptosis. We then discuss the features of levator dehiscence and list its common causes, which include involutional changes in orbital connective tissues, long-term use of contact lenses, and iatrogenic trauma. Lastly, we review the treatment options for levator dehiscence.

scholarly journals Paroxysmal otalgia treated with microvascular decompression of the intermediate nerve: illustrative case

2021 ◽  
Vol 1 (19) ◽  
Author(s):  
Leonie Witters ◽  
Anton Lukes ◽  
Tomas Menovsky
Keyword(s):  
Surgical Treatment ◽  
Microvascular Decompression ◽  
Treatment Options ◽  
Pain Syndrome ◽  
Surgical Decompression ◽  
Illustrative Case ◽  
Disease Course ◽  
Neurovascular Conflict ◽  
Rare Type ◽  
Cranial Neuralgia

BACKGROUND Intermediate nerve neuralgia is a rare type of cranial neuralgia that causes clinical, therapeutic, and diagnostic challenges. Studies have described pharmacological and surgical treatment options. Surgical treatment ranges from sectioning of neural structures to microvascular decompression. Given the rareness of the disease, there are no clear recommendations concerning treatment. OBSERVATIONS Reported is the case of a patient with typical intermediate nerve neuralgia. In this particular case, decision-making toward surgical decompression in an earlier stage of the disease could have been beneficial. The authors found excellent results using only microvascular decompression without sectioning of neural structures. LESSONS Knowledge of intermediate nerve anatomy is essential to understand this complex pain syndrome. This case illustrates that surgery should not only be regarded as a last resort in case of failure of conservative treatment but also should be considered early in the disease course, especially in the case of a clear neurovascular conflict. When no evident cause is found, surgery could be considered as an exploratory option to depict a neurovascular conflict intraoperatively. Microvascular decompression of the intermediate nerve without sectioning of neural structures can obtain excellent results. Since neural structures are saved, postoperative sequelae can be limited.

Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy

2020 ◽  
Author(s):  
Roberta Battini ◽  
Enrico Bertini ◽  
Roberta Milone ◽  
Chiara Aiello ◽  
Rosa Pasquariello ◽  
...  
Keyword(s):  
Nervous System ◽  
Differential Diagnosis ◽  
Clinical Features ◽  
Neurodevelopmental Disorder ◽  
Recurrent Mutation ◽  
Clinical Suspicion ◽  
Alexander Disease ◽  
Brain Anomalies ◽  
Progressive Encephalopathy ◽  
Core Features

Abstract PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).

Classifications and Clinical Assessment of Haemorrhoids:The Proctologist’s Corner

2020 ◽  
Vol 15 ◽  
Author(s):  
Arcangelo Picciariello ◽  
Petr Tsarkov ◽  
Vincenzo Papagni ◽  
Sergey Efetov ◽  
Daniel Markaryan ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Clinical Evaluation ◽  
Clinical Assessment ◽  
Adult Population ◽  
Preoperative Assessment ◽  
Classification Systems ◽  
Patient Treatment ◽  
Benign Condition ◽  
Haemorrhoidal Disease ◽  
Therapeutic Choice

BACKGROUND: Haemorrhoidal disease (HD) is a benign condition affecting a considerable part of adult population. HD can be considered a social and economic burden with high impact on patient lifestyle. Several new techniques and devices have been proposed for HD treatment; however, preoperative assessment is essential and the use of classification system is recommended. METHODS: In the last two decades many studies described the preoperative assessment and several attempts of classification for HD. This review focuses on the most relevant studies found in literature where classification systems and clinical evaluation with differential diagnosis have been evaluated. RESULTS: The knowledge of classification systems and differential diagnosis for HD has been shown to play a central role in the clinical assessment and in the best treatment choice. Although there are new challenging techniques and devices for HD treatment, a preoperative assessment is always mandatory. CONCLUSION: Preoperative clinical evaluation is essential for HD patient treatment and outcome. Classification systems are useful for the therapeutic choice and for researches on new medical or surgical treatments. In fact, the international guidelines advise several therapeutic options depending on the severity of the HD.

scholarly journals Hybrid treatment of fibroadipose vascular anomaly: A case report

Open Medicine ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. 890-897
Author(s):  
Francesco Stillo ◽  
Federica Ruggiero ◽  
Antonio De Fiores ◽  
Rita Compagna ◽  
Bruno Amato
Keyword(s):  
Patient Satisfaction ◽  
Vascular Anomaly ◽  
Rare Type ◽  
Complete Excision ◽  
Hybrid Treatment ◽  
Constant Pain ◽  
Additional Surgery ◽  
Ethanol Embolization

AbstractBackgroundFirst identified in 2014, fibroadipose vascular anomaly (FAVA) is a very rare type of venous and lymphatic malformation. Marked by tough fibrofatty tissue in the extremities overtaking portions of the muscles, it is associated with constant pain and contracture of the affected extremity. There is a paucity of literature, and no guidelines on treatment procedure are available. This case highlights the role of hybrid treatment with primary ethanol percutaneous ethanol embolization and additional surgery for radicality in excision of FAVA lesions.Case summaryA 9-year-old girl with FAVA underwent the hybrid treatment. The achievements of complete excision, clinical response, and patient satisfaction in long-term follow-up were assessed. Following the hybrid treatment, the patient experienced significant improvement in pain. Concurrent symptoms of physical limitation, leg swelling, and skin hyperesthesia also improved. The clinical benefit, supported by postoperative physiotherapy, was well stabilized at 6-month follow-up, resulting in complete patient satisfaction at 12- and 36-month follow-ups. No major complications were encountered.ConclusionEthanol embolization plus surgery is a safe, effective, and long-term hybrid treatment of symptomatic FAVA lesions.

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