Proteus syndrome with huge tonsillar mass causing dysphagia: a rare case

2006 ◽  
Vol 120 (5) ◽  
pp. 408-410 ◽  
Author(s):  
J K Sahni ◽  
S Kumar ◽  
V Wadhwa ◽  
G Kathuria
Keyword(s):  
Connective Tissue ◽  
Rare Case ◽  
Vascular Malformations ◽  
Multiple Organ ◽  
Proteus Syndrome ◽  
Orthopaedic Surgeons ◽  
Organ Systems

Proteus syndrome is a rare and highly variable hamartomatous syndrome that can affect multiple organ systems. It is characterized by hyperplasia of connective tissue, vascular malformations, epidermal naevi and hyperostosis. Most of the cases present to plastic and orthopaedic surgeons. Otolaryngologic presentations are minimal. We report such a rare case, which presented with a huge unilateral tonsillar mass causing dysphagia.

scholarly journals A Case Report of Marfan Syndrome with Literature Review

2015 ◽  
Vol 4 (4) ◽  
pp. 269
Author(s):  
Hemanth Kumar Kalla ◽  
Swarna Kumari ◽  
CH Rama rao ◽  
MKR Parthasarathy ◽  
S Surya prakash Reddy ◽  
...  
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Clinical Signs ◽  
Connective Tissue Disorder ◽  
Multiple Organ ◽  
Review Of The Literature ◽  
Organ Systems ◽  
Loin Pain ◽  
Routine Physical Examination

Marfan syndrome(MFS) is a connective tissue disorder that affects multiple organ systems. Cardiovascular, ocular, and skeletal abnormalities are cardinal features of the syndrome. Its incidence is among the highest of any heritable disorder.Most patients who have Marfan syndrome are usually diagnosed incidentally when they present for a routine physical examination for various reasons. The purpose of this paper is to provide a review of the literature, as well as describe a 22-year-old male with MFS and right hydroureteronephrosis diagnosed incidentally when he attended our hospital for complaints of fever and right loin pain. This case report emphasizes importance of “Revised Ghent criteria” for the diagnosis of MFS and highlights various clinical signs of MFS<strong>.</strong>

scholarly journals Lactulose to the Rescue: A Case of Toxic Hepatic Encephalopathy Caused by Portosystemic Shunting and Epistaxis in a Patient with Hereditary Hemorrhagic Telangiectasia

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Ruchit N. Shah ◽  
Michael Makar ◽  
Nasir Akhtar ◽  
Erin Forster
Keyword(s):  
Hepatic Encephalopathy ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Rare Complication ◽  
Multiple Organ ◽  
Autosomal Dominant Disorder ◽  
Life Saving ◽  
Organ Systems ◽  
Portosystemic Shunting

Hereditary hemorrhagic telangiectasia (HHT) is an uncommon autosomal dominant disorder characterized by telangiectasias and arteriovenous malformations. Multiple organ systems are involved including the skin, lungs, gastrointestinal tract, and brain. Hepatic encephalopathy is an extremely rare complication of HHT and early diagnosis and treatment can be life-saving. We present a rare case of hepatic encephalopathy caused by HHT-induced portosystemic shunting treated with lactulose.

A Case Report of Marfan Syndrome with Literature Review

2015 ◽  
Vol 4 (4) ◽  
pp. 269
Author(s):  
Hemanth Kumar Kalla ◽  
Swarna Kumari ◽  
CH Rama rao ◽  
MKR Parthasarathy ◽  
S Surya prakash Reddy ◽  
...  
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Clinical Signs ◽  
Connective Tissue Disorder ◽  
Multiple Organ ◽  
Review Of The Literature ◽  
Organ Systems ◽  
Loin Pain ◽  
Routine Physical Examination

Marfan syndrome(MFS) is a connective tissue disorder that affects multiple organ systems. Cardiovascular, ocular, and skeletal abnormalities are cardinal features of the syndrome. Its incidence is among the highest of any heritable disorder.Most patients who have Marfan syndrome are usually diagnosed incidentally when they present for a routine physical examination for various reasons. The purpose of this paper is to provide a review of the literature, as well as describe a 22-year-old male with MFS and right hydroureteronephrosis diagnosed incidentally when he attended our hospital for complaints of fever and right loin pain. This case report emphasizes importance of “Revised Ghent criteria” for the diagnosis of MFS and highlights various clinical signs of MFS<strong>.</strong>

scholarly journals Klippel-Trenaunay Syndrome Causing Life-Threatening GI Bleeding: A Case Report and Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Salih Samo ◽  
Muhammed Sherid ◽  
Husein Husein ◽  
Samian Sulaiman ◽  
Margaret Yungbluth ◽  
...  
Keyword(s):  
Vascular Malformations ◽  
Multiple Organ ◽  
Gi Bleeding ◽  
Blood Products ◽  
Review Of The Literature ◽  
Gi Tract ◽  
Organ Systems ◽  
Life Threatening ◽  
Klippel Trenaunay Syndrome ◽  
Congenital Syndrome

Klippel-Trenaunay syndrome (KTS) is a rare congenital syndrome of vascular malformations and soft tissue and bone hypertrophy. Vascular malformations can affect multiple organ systems. Involvement of the gastrointestinal (GI) tract is uncommon in KTS, but it can be a source of life-threatening bleeding. We report a case of a 32-year-old male with a known diagnosis of KTS who presented with a life-threatening rectal bleeding and was treated with proctosigmoidectomy and massive blood products transfusion. He expired after a long hospitalization. We then review the literature on KTS and management of some of its complications.

MARFAN SYNDROME AND PREGNANCY: CLINICAL IMPLICATIONS AND MANAGEMENT

2010 ◽  
Vol 21 (3) ◽  
pp. 225-241
Author(s):  
ARIADNA C GRIGORIU ◽  
JACK COLMAN ◽  
CANDICE K SILVERSIDES ◽  
RACHEL WALD ◽  
SAMUEL C SIU ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
De Novo ◽  
Connective Tissue Disorder ◽  
Multiple Organ ◽  
Clinical Implications ◽  
Organ Systems

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that affects multiple organ systems, primarily the cardiovascular, ocular and skeletal. It is the most common inherited condition affecting the heart and the aorta, occurring in 1:5000–1:9800 people. There is no ethnic or gender predisposition; 20 to 35% of cases arise fromde novomutations.

Rheumatoid Arthritis Patient Presenting for a Total Knee Replacement

2018 ◽  
pp. 237-239
Author(s):  
Perin Kothari ◽  
Sree Kolli
Keyword(s):  
Rheumatoid Arthritis ◽  
Cervical Spine ◽  
Rheumatoid Arthritis Patient ◽  
Connective Tissue ◽  
Preoperative Assessment ◽  
Connective Tissue Disorder ◽  
Multiple Organ ◽  
Organ Systems ◽  
Intraoperative Management ◽  
Total Knee

Rheumatoid arthritis (RA) is a progressive connective tissue disorder. Patients with RA have several concerns relevant to the anesthesiologist. RA can affect multiple organ systems beyond simply the joints. A thorough history and physical is needed to evaluate for cardiac, respiratory, and neurologic abnormalities. Furthermore, cervical spine involvement is very common for patients with RA. Special consideration is needed for airway management of these patients. In addition, radiographic imaging may be helpful in evaluating the extent of the disease. Regional and neuraxial anesthesia may be alternatives to general anesthesia in patients with RA when possible. This chapter discusses preoperative assessment and intraoperative management of patients with RA.

scholarly journals Upper extremity arterial thromboembolism in a patient with severe COVID-19 pneumonia: A case report

2021 ◽  
Vol 32 (2) ◽  
pp. 551-555
Author(s):  
Ayşegül Bilge ◽  
İsmail Karasoy ◽  
Elif Neziroğlu ◽  
Yeşim Güner
Keyword(s):  
Case Report ◽  
Upper Extremity ◽  
Rare Case ◽  
Distress Syndrome ◽  
Multiple Organ ◽  
Upper Extremities ◽  
Surgical Interventions ◽  
Arterial Thromboembolism ◽  
Organ Systems ◽  
Novel Coronavirus

Although novel coronavirus-2019 (COVID-19) primarily affects the respiratory system, it can affect multiple organ systems, leading to serious complications, such as acute respiratory distress syndrome (ARDS) and multiple organ failure. Nearly 20 to 55% of patients with COVID-19 experience coagulation disorders that cause high mortality in line with the severity of the clinical picture. Thromboembolism can be observed in both venous and arterial systems. The vast majority of thromboembolic events are associated with the venous system and are often observed as pulmonary embolism. Arterial thromboembolisms often involve the arteries in the lower extremities, followed by those in the upper extremities. Herein, we report a rare case of COVID-19 pneumonia whose left arm was amputated at the forearm level after arterial thromboembolism in the left upper extremity. This case report is valuable, as it is the first reported case of upper extremity arterial thromboembolism in Turkey, as well as the only case in the literature in which the patient underwent four surgical interventions and is still alive.

scholarly journals Proteus Syndrome: A Rare Case in An Adult Ward

2021 ◽  
Author(s):  
Catarina Duarte Santos ◽  
Rita Lizardo Grácio ◽  
Tatiana Costa Pires ◽  
Miguel González Santos ◽  
Rita Jesus Rodrigues ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Rare Case ◽  
Pulmonary Thromboembolism ◽  
Vascular Malformations ◽  
Proteus Syndrome ◽  
Left Hemithorax ◽  
Live Births ◽  
Vein Thrombosis ◽  
Deep Vein

Proteus syndrome is an extremely rare disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissue, such as bone, fat or epidermal nevi, in a mosaic or patchy pattern. It has an estimated prevalence of less than 1/1,000,000 live births. The diagnosis can be difficult because the phenotypes of the patients are variable. Many individuals develop cutaneous capillary malformation and prominent varicosities (large and complex vascular malformations). Thus, Proteus syndrome patients are at risk of developing deep vein thrombosis and pulmonary embolism. The authors present the case of a patient with Proteus syndrome who was admitted because of pulmonary thromboembolism and presented hypertrophy of the left arm and left hemithorax.

Microprobe analysis of inclusion bodies related to two benzofuran derivatives

1987 ◽  
Vol 45 ◽  
pp. 672-673
Author(s):  
T. L. Benning ◽  
P. Ingram ◽  
J. D. Shelburne
Keyword(s):  
Inclusion Bodies ◽  
Uranyl Acetate ◽  
Multiple Organ ◽  
High Dose ◽  
En Bloc ◽  
Tissue Samples ◽  
Transmission Electron ◽  
Organ Systems ◽  
Dense Inclusion ◽  
Melanin Complex

Two benzofuran derivatives, chlorpromazine and amiodarone, are known to produce inclusion bodies in human tissues. Prolonged high dose chlorpromazine therapy causes hyperpigmentation of the skin with electron-dense inclusion bodies present in dermal histiocytes and endothelial cells ultrastructurally. The nature of the deposits is not known although a drug-melanin complex has been hypothesized. Amiodarone may also cause cutaneous hyperpigmentation and lamellar lysosomal inclusion bodies have been demonstrated within the cells of multiple organ systems. These lamellar bodies are believed to be the product of an amiodarone-induced phospholipid storage disorder. We performed transmission electron microscopy (TEM) and energy dispersive x-ray microanalysis (EDXA) on tissue samples from patients treated with these drugs, attempting to detect the sulfur atom of chlorpromazine and the iodine atom of amiodarone within their respective inclusion bodies.A skin biopsy from a patient with hyperpigmentation due to prolonged chlorpromazine therapy was fixed in 4% glutaraldehyde and processed without osmium tetroxide or en bloc uranyl acetate for Epon embedding.

Impairment Rating and Spinal Cord Injuries: Revisiting the Guides

2010 ◽  
Vol 15 (3) ◽  
pp. 1-7
Author(s):  
Richard T. Katz
Keyword(s):  
Spinal Cord ◽  
Spinal Cord Injuries ◽  
Functional Independence ◽  
Outcome Data ◽  
Multiple Organ ◽  
Loss Of Function ◽  
Sixth Edition ◽  
Organ Systems ◽  
Cord Injury ◽  
Impairment Ratings

Abstract This article addresses some criticisms of the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides) by comparing previously published outcome data from a group of complete spinal cord injury (SCI) persons with impairment ratings for a corresponding level of injury calculated using the AMA Guides, Sixth Edition. Results of the comparison show that impairment ratings using the sixth edition scale poorly with the level of impairments of activities of daily living (ADL) in SCI patients as assessed by the Functional Independence Measure (FIM) motor scale and the extended FIM motor scale. Because of the combinations of multiple impairments, the AMA Guides potentially overrates the impairment of paraplegics compared with that of quadriplegics. The use and applicability of the Combined Values formula should be further investigated, and complete loss of function of two upper extremities seems consistent with levels of quadriplegia using the SCI model. Some aspects of the AMA Guides contain inconsistencies. The concept of diminishing impairment values is not easily translated between specific losses of function per organ system and “overall” loss of ADLs involving multiple organ systems, and the notion of “catastrophic thresholds” involving multiple organ systems may support the understanding that variations in rating may exist in higher rating cases such as those that involve an SCI.

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