scholarly journals The case of detection and differential diagnosis of Hypell-Lindau disease in a patient as a result of a comprehensive examination of a patient in a chronic critical condition

2020 ◽  
Author(s):  
A Yakovleva
Keyword(s):  
Differential Diagnosis ◽  
Surgical Treatment ◽  
Family History ◽  
Critical Condition ◽  
Clinical Case ◽  
Multidisciplinary Approach ◽  
Von Hippel Lindau ◽  
Live Births ◽  
Comprehensive Examination ◽  
Von Hippel Lindau Syndrome

According to evidence in the literature occurrence of the Hippel Lindau disease changes from 1: 33000 - 1: 36000 (population frequency) to 1 in 39000 live births. Up to 20% of them have not family history. Hereditary predisposition of most patients with systemic angioreticulomatosis has patterns and attributes. Diversity of forms and infrequent cases of the Hippel Lindau disease complicate timely diagnosis. Untimely control of condition of patient with the Hippel Lindau disease increases the probability of complications in surgical treatment. It can be the reason of early disability too. The presented clinical case reflects the need for a multidisciplinary approach to the management of patients with von Hippel-Lindau syndrome.

scholarly journals VON HIPPEL-LINDAU SYNDROME: ASPECTS OF TREATMENT AND MANAGEMENT. CASE REPORT AND LITERATURE REVIEW

2019 ◽  
Vol 9 (3) ◽  
pp. 165-171
Author(s):  
I. I. Larina ◽  
N. M. Platonova ◽  
E. A. Troshina ◽  
A. A. Roslyakova ◽  
D. G. Belzevich ◽  
...  
Keyword(s):  
Case Report ◽  
Family History ◽  
Clinical Case ◽  
Genetic Basis ◽  
Multidisciplinary Approach ◽  
Surgery Complications ◽  
Von Hippel Lindau ◽  
History Of ◽  
Natural Characteristic ◽  
Von Hippel Lindau Syndrome

The steadily growing interest in studying of endocrine genetics is driven not only by the search for new pathologies but also by the most pressing need to develop methods for early diagnosis, treatment and management of patients. Though 20% of all the patients with von Hippel-Lindau syndrome do not have a family history of the disease; a genetic basis is a natural characteristic of the disease and determinates a phenotype. Despite the nonaggressive course, in general, a relative unpredictability of the syndrome signs onset and the lack of regular monitoring can increase the risk of surgery complications and cause a disability at a young age. The presented clinical case shows the need for a multidisciplinary approach to management of the patients with von Hippel-Lindau syndrome.

scholarly journals Surgical treatment of von Hippel-Lindau disease complicated by retinal detachment: a clinical case

2018 ◽  
Vol 11 (1) ◽  
pp. 85-92
Author(s):  
V.V. Neroev ◽  
◽  
P.A. Ilyukhin ◽  
M.V. Ryabina ◽  
A.Yu. Novikova ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Retinal Detachment ◽  
Clinical Case ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

scholarly journals Surgical treatment of Jeune syndrome in a child (rare clinical case and review)

2021 ◽  
Vol 28 (1) ◽  
pp. 45-52
Author(s):  
Igor A. Komolkin ◽  
Aleksandr Yu. Mushkin ◽  
Olga E. Agranovich ◽  
Ardan P. Afanasiev
Keyword(s):  
Respiratory Failure ◽  
Surgical Treatment ◽  
Clinical Case ◽  
Multidisciplinary Approach ◽  
Severe Disease ◽  
Positive Outcome ◽  
Case Review ◽  
Jeune Syndrome ◽  
Chest Deformity ◽  
Syndrome Analysis

Objective: possibility of surgical treatment of chest deformity in children with Jeune syndrome (analysis of the clinical case), review of literature on Jeune syndrome in children. Methods: clinical, radiological, laboratory, instrumental, statistical. Results: Positive outcome of surgical treatment of a 3-year-old patient with severe chest deformity and severe respiratory failure. Conclusions: Jeune syndrome is a severe disease with a high mortality rate. A multidisciplinary approach is required in the treatment of patients with this pathology. Surgical intervention aimed at reducing the compression of the chest organs and increasing its volume, even in conditions of decompensation, allows you to stop the phenomenon of respiratory failure.

Primary Aldosteronism Complicated by Hypokalemic Rhabdomyolysis. A Clinical Case

2019 ◽  
Vol 2 (3) ◽  
pp. 110-114
Author(s):  
K. Skaletsky ◽  
E. Kosmacheva ◽  
N. Kizhvatova ◽  
V. Porhanov
Keyword(s):  
Differential Diagnosis ◽  
Surgical Treatment ◽  
Primary Aldosteronism ◽  
Cerebrovascular Accident ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Secondary Hypertension ◽  
Acute Cerebrovascular Accident ◽  
Initial Stage ◽  
Common Causes

Abstract Primary aldosteronism (PA) is one of the most common causes of secondary hypertension, which in less than half of cases is manifested by hypokalemia. In cases where hypokalemia becomes significant, it can lead to muscle weakness or even paralysis. Such patients are often unsuccessfully treated by neurologists or rheumatologists. In our clinical case a 61 year old patient had rapidly developing symptoms, which were interpreted by ambulance paramedics as an acute cerebrovascular accident. Since the patient was admitted to a multidisciplinary hospital, he was examined by doctors of different specialties, the diagnostic direction was set correctly and rhabdomyolysis was already detected at the initial stage. We excluded various causes of myopathy, which ultimately led us to the most likely cause of this condition - hypokalemia, and explained muscle symptoms. As a result, it helped us to identify the correct diagnosis - aldosteronism. The patient quickly recovered due to the prescribed therapy and felt good, and therefore refused surgical treatment (adrenalectomy), which, perhaps, would allow him to fully recover. Thus, a rare clinical case of differential diagnosis and successful drug treatment of PA with hypokalemia, which is manifested by rhabdomyolysis, is presented.

scholarly journals The need for a multidisciplinary approach to the diagnosis and treatment procedures of isolated lesions of the oral mucosa in herpetiform Dühring dermatitis

2020 ◽  
Vol 24 (2) ◽  
pp. 99-103
Author(s):  
Guzel R. Ruvinskaya ◽  
E. N. Silantieva ◽  
A. V. Anokhina
Keyword(s):  
Differential Diagnosis ◽  
Oral Mucosa ◽  
Clinical Case ◽  
Multidisciplinary Approach ◽  
Immunoglobulin A ◽  
Dynamic Observation ◽  
Icd 10 ◽  
Gluten Enteropathy ◽  
Inflammatory Processes ◽  
Treatment Procedures

The defeat of the oral mucosa in herpetiform Dhring dermatitis is a rare pathology. According to the literature, it is detected in 9.6% 10% of cases. Granular deposits of immunoglobulin A in the papillae of the dermis in herpetiform Dhring dermatitis are associated with gluten enteropathy, lead to the development of inflammatory processes on the skin and oral mucosa and the appearance of polymorphic itchy rashes and chronic recurrent course of the disease. The article describes a clinical case of a patient diagnosed with herpetiform dermatitis, manifestations in the oral cavity (ICD-10 L13.0X code). The need for a multidisciplinary approach to the diagnosis, differential diagnosis, treatment and dynamic observation of isolated lesions of the oral mucosa in herpetiform Dhring dermatitis is indicated. A scheme of measures required by a dentist is developed.

scholarly journals Cherubism - Clinical case report and narrative review

2021 ◽  
Vol 10 (2) ◽  
pp. 22510212085
Author(s):  
Leonardo Alan Delanora ◽  
Ana Maira Pereira Baggio ◽  
Nathália Januario de Araujo ◽  
Idelmo Rangel Garcia-Junior ◽  
Sabrina Ferreira
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Family History ◽  
Bone Disease ◽  
Clinical Characteristics ◽  
Clinical Case ◽  
Giant Cells ◽  
Brown Tumor ◽  
Review Of The Literature ◽  
History Of

Cherubism is described as a rare and benign hereditary bone disease, characterized by a bilateral volumetric increase in the maxillary bones, with a greater predilection for males in childhood. Clinically, it presents as a volumetric enlargement of the mandible and, maxilla, which is generally painless, firm on palpation and varies in relation to size and extension. Its differential diagnosis is the Brown Tumor of Hyperparathyroidism and the Central Lesion of Giant Cells. The diagnosis is based on the assessment of clinical characteristics together with complementary exams. The objective of this study was to carry out a brief review of the literature and report a clinical case of this pathology in a 9-year-old child with a family history of cherubism, assessed through imaging, histopathological and karyotype exams, which continues to be assisted by the oral and maxilofacial surgery team of the Faculdade de Odontologia de Araçatuba - FOA Unesp since the treatment of the cherubism still does not have a definitive protocol.

scholarly journals TORACOSCOPIC TREATMENT OF THE NEWBORN INFANT WITH FALSE RIGHT-SIDED DIAPHRAGM HERNIA

2019 ◽  
Vol 23 (2) ◽  
pp. 106-109
Author(s):  
V. I. Lapshin ◽  
Maksim P. Razin ◽  
M. A. Akselrov ◽  
M. A. Baturov ◽  
V. A. Skobelev ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Mortality Rate ◽  
Congenital Diaphragmatic Hernia ◽  
Newborn Infant ◽  
Diaphragmatic Hernia ◽  
Clinical Case ◽  
Live Births ◽  
Diaphragm Hernia

Congenital diaphragmatic hernia (CDH) occurs with a frequency of 1 per 2000 - 4000 live births, but at present, surgical treatment of EDC, especially in newborns, remains one of the difficult tasks of pediatric surgeons, anesthesiologists, and resuscitators. The numbers of postoperative lethality can reach high values, 35-50% of children die from surgery, besides, 32% of CDH children are born dead. The highest mortality rate is characteristic for agenesia of the diaphragm dome. False CDHs are more common, in one-sided cases left-sided defects in the diaphragm prevail occurring 4-16 times more often. The authors presented their own experience - a description of a rare clinical case of right-sided false diaphragmatic hernia in a newborn infant and its successful thoracoscopic treatment.

scholarly journals Loeys–Dietz syndrome (literature review and case description)

2020 ◽  
Vol 8 (1) ◽  
pp. 83-94
Author(s):  
Olga E. Agranovich ◽  
Sergey Yu. Semenov ◽  
Eugeniya F. Mikiashvili ◽  
Svetlana V. Sarantseva
Keyword(s):  
Differential Diagnosis ◽  
Connective Tissue ◽  
Literature Review ◽  
Clinical Case ◽  
Multidisciplinary Approach ◽  
Clinical Observation ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Dynamic Monitoring ◽  
Case Description

Background. The LoeysDietz syndrome is a rare autosomal dominant connective tissue disorder characterized by the pathology of the cardiovascular system in combination with various anomalies of the musculoskeletal system. In modern literature, there is neither any information about the frequency of pathology nor any algorithm of examination and treatment for patients with this syndrome. Clinical case. The article presents a clinical observation of a 7-year-old patient with LoeysDietz syndrome with a genetically confirmed diagnosis. Discussion. This article provided a literature review, examined diagnosis issues and differential diagnosis, and presented the clinical picture of the syndrome. The main symptoms of LoeysDietz syndrome are artery aneurysms (most often in the aortic root), arterial tortuosity (mainly the vessels of the neck), hypertelorism, and bifid (split) or broad uvula. However, the combination of these symptoms is not found in all patients with this disease. Conclusions. The article emphasized the importance of a genetic verification of the disease, as well as a multidisciplinary approach to treatment with mandatory dynamic monitoring by specialists such as a cardiologist, neurologist, orthopedist, and pediatrician, which help prevent the development of complications and increase the life expectancy of this group of patients.

scholarly journals Surgical treatment of sporadic and von Hippel–Lindau syndrome-associated intramedullary hemangioblastomas

2016 ◽  
Vol 50 (5) ◽  
pp. 349-355 ◽  
Author(s):  
Marek Prokopienko ◽  
Przemysław Kunert ◽  
Anna Podgórska ◽  
Andrzej Marchel
Keyword(s):  
Surgical Treatment ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Syndrome

scholarly journals Differential diagnosis and management issues of idiopathic angiooedema and their resolution

2015 ◽  
Vol 1 (2) ◽  
pp. 55-60
Author(s):  
Andrea Zanichelli ◽  
Marta Mansi ◽  
Maddalena A. Wu ◽  
Giulia Azin ◽  
Marco Cicardi
Keyword(s):  
Quality Of Life ◽  
Differential Diagnosis ◽  
Family History ◽  
Critical Condition ◽  
Temporary Increase ◽  
Vasoactive Peptides ◽  
Mucosal Tissues ◽  
Nosologic Entity ◽  
Management Issues

AbstractAngiooedema is a local and self-limiting swelling of the subcutaneous and sub mucosal tissues, produced by vasoactive peptides that temporary increase the vascular permeability.It is recognized that recurrent angiooedema exposes patients to the risk of fatalities and reduced quality of life, being in some circumstances associated with a critical condition.Angiooedema can occur with or without wheals. The first symptom is urticaria, the second is a distinct nosologic entity. In absence of an identifiable cause, recurrent angiooedema without wheals can be defined as idiopathic and marked“idiopathic histaminergic angiooedema” when it is responsive to anti histamine treatment, and “idiopathic non-histaminergic angiooedema” when it is not. Furthermore, idiopathic non-histaminergic angiooedema can be diagnosed as hereditary or sporadic by family history.In this review, we summarize the approaches to diagnose and treat different forms of idiopathic angiooedema.

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