Congenital optic disc coloboma

2021 ◽  
pp. 33-39
Author(s):  
A.O. Nazarenko ◽  
◽  
E.E. Sidorenko ◽  
D.V. Miguel ◽  
A.S. Smartsev ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Optic Nerve ◽  
Clinical Picture ◽  
Clinical Case ◽  
Charge Syndrome ◽  
Diagnostic Methods ◽  
Newly Diagnosed ◽  
Optic Nerve Atrophy ◽  
Optic Disc Coloboma ◽  
Optic Nerve Coloboma

A clinical case of observation of a 3-year-old child with a newly diagnosed optic nerve coloboma and multiple malformations is considered. The clinical picture and diagnostic methods necessary for the diagnosis are reflected. On the example of this child, the differential diagnosis with Charge syndrome is considered. Key words: coloboma, optic nerve coloboma, partial optic nerve atrophy, astigmatism, Charge syndrome.

scholarly journals Accidental discovery of HIV infection in a child at the age of 1 year 10 months: analysis of a clinical case

2020 ◽  
pp. 116-119
Author(s):  
E. V. Striga ◽  
O. V. Zaytseva ◽  
D. Yu. Komelyagin ◽  
S. V. Iamatina ◽  
S. A. Dubin ◽  
...  
Keyword(s):  
Human Immunodeficiency Virus ◽  
Differential Diagnosis ◽  
Clinical Picture ◽  
Clinical Case ◽  
Underlying Disease ◽  
Newly Diagnosed ◽  
Parotid Region ◽  
Specialized Hospital ◽  
Immunodeficiency Virus ◽  
Lymphoproliferative Syndrome

The article presents a clinical example of a case of accidental diagnosis of human immunodeficiency virus in a child at the age of 1 year 10 months with an abscess in the parotid region on the left and the newly diagnosed lymphoproliferative syndrome. The expression of lymphoproliferative syndrome did not correspond to the clinical picture of the underlying disease, therefore differential diagnosis was made between such diseases as histiocytosis, haemoblastosis, primary immunodeficiency disorders, salmonellosis, yersiniosis, tuberculosis. As a result, a human immunodeficiency virus was diagnosed in a child of young age who does not have an apparently burdened history. As a result, the child was timely sent to a specialized hospital for in-depth examination and treatment.

A rare case of oculocutaneous melanosis (nevus of Ota) at Ophthalmologist's appointment

2021 ◽  
pp. 39-43
Author(s):  
E.E. Sidorenko ◽  
◽  
A.O. Nazarenko ◽  
I.V. Suhanova ◽  
A.P. Shavaleeva ◽  
...  
Keyword(s):  
Risk Factors ◽  
Differential Diagnosis ◽  
Clinical Picture ◽  
Rare Case ◽  
Clinical Case ◽  
Diagnostic Methods ◽  
Skin Melanoma ◽  
Nevus Of Ota ◽  
Melanoma Patients ◽  
Eye Melanoma

A rare clinical case of nevus of Ota in a 6-year-old child is described. The clinical picture and diagnostic methods used in this case are reflected. On the example of the patients presented in this article, differential diagnosis with alkaptonuria is fully described. Given the risk of transition to skin melanoma and ocular melanoma, patients with nevus of Ota should be observed by Dermatologist and Ophthalmologist annually. Such patients should also strictly avoid exposition to any ultraviolet radiation and exclude possible risk factors traumatizing the nevus. Key words: nevus, Ota nevus, alkaptonuria, skin melanoma, eye melanoma.

Optic disc coloboma (the morning glory syndrome) and optic nerve coloboma associated with transsphenoidal meningoencephalocele

2003 ◽  
Vol 45 (2) ◽  
pp. 71-76 ◽  
Author(s):  
Mutlu Sağlam ◽  
Üzeyir Erdem ◽  
Murat Kocaoğlu ◽  
Cem Tayfun ◽  
Taner Üçöz ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Morning Glory ◽  
Morning Glory Syndrome ◽  
Optic Disc Coloboma ◽  
Optic Nerve Coloboma

Combined corneal and optic nerve pathology

2021 ◽  
pp. 28-32
Author(s):  
M.R. Khabazova ◽  
◽  
E.E. Ioyleva ◽  
N.A. Gavrilova ◽  
N.S. Gadzhieva ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Corneal Dystrophy ◽  
Diagnostic Methods ◽  
Ophthalmological Examination ◽  
Rare Occurrence ◽  
Progressive Decrease ◽  
Optic Nerve Atrophy ◽  
Congenital Diseases ◽  
Optic Disc Drusen ◽  
Genetically Determined

A case with ophthalmological manifestations of two genetically determined diseases in one patient with a progressive decrease in visual functions is considered. The clinical picture and modern diagnostic methods necessary for the clinical diagnosis are reflected. The rare occurrence of combinations of congenital diseases of the cornea and optic nerve disc requires special attention during ophthalmological examination. Key words: corneal dystrophy, comorbidity, inherited diseases, optic nerve atrophy, optic disc drusen.

scholarly journals Wilson–Konovalov disease: acute onset, course, diagnosis and treatment (clinical case)

2021 ◽  
pp. 76-81
Author(s):  
Yu.I. Alekseeva ◽  
◽  
Ji. V. Turkin ◽  
О.B. Synoverskaya ◽  
L.Ya. Ivanyshyn ◽  
...  
Keyword(s):  
Clinical Picture ◽  
Clinical Case ◽  
Local Level ◽  
Acute Onset ◽  
Left Lobe ◽  
Diagnostic Methods ◽  
Laboratory Research ◽  
Disease Etiology ◽  
Research Institution ◽  
Body Tissues

The article presents information on the main etiology and pathogenesis of Wilson–Konovalov disease, as hepato-lenticular degeneration associated with excessive accumulation of copper in body tissues due to an inherited autosomal recessive defect of a protein that transports copper. A rare case of the onset and course of the disease in a patient who was examined and treated at the Ivano-Frankivsk Regional Children's Clinical Hospital is described. The main focus is on the acute, atypical onset of the disease, in particular the signs of severe intoxication syndrome caused by manifestations of hepatic encephalopathy, steroid-induced diabetes, anemia of complex genesis, coronavirus disease, pyoderma. The difficulties of diagnosing the disease against the background of delayed manifestation of the main pathognomonic manifestations and the absence of reliable signs of the disease are shown. The clinical picture of this clinical case, features of the course are described, the indicators of the main clinical and laboratory research methods are given, the results of instrumental diagnostic methods and genetic examination methods are shown, both in laboratories of Ukraine and abroad, which confirmed the diagnosis of Wilson–Konovalov disease. The treatment of this clinical case is described in detail not only at the local level but also in the main leading research institution of Ukraine «OHMATDYT» and «National Institute of Surgery and Transplantology named after O.O. Shalimov». Recommendations for further observation and treatment of the child at the place of residence after orthotopic transplantation of the left lobe of the liver from a living family donor. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: Wilson-Konovalov disease, etiology, pathogenesis, clinical picture, diagnosis, examination, treatment.

Microcirculatory Changes in the Retina in Patient with COVID-19

2021 ◽  
pp. 46-49
Author(s):  
M.S. Krivosheeva ◽  
◽  
E.E. Ioyleva ◽  
Keyword(s):  
Macular Edema ◽  
Key Words ◽  
Retinal Vein Occlusion ◽  
Clinical Picture ◽  
Branch Retinal Vein Occlusion ◽  
Clinical Case ◽  
Diagnostic Methods ◽  
Pathological Changes ◽  
Renin Angiotensin Aldosterone System ◽  
Vein Occlusion

A clinical case of observation of a patient who had branch retinal vein occlusion with the development of macular edema, against the background of a moderate-severe course of COVID-19, was considered. The clinical picture and diagnostic methods necessary for the diagnosis are described. Some aspects of pathological changes in the organ of sight in COVID-19 are discussed. Key words: COVID-19, branch retinal vein occlusion, macular edema, renin-angiotensin-aldosterone system.

scholarly journals Clinical case of observation of patient with primary systemic amyloidosis

2020 ◽  
pp. 46-48
Author(s):  
Yu. N. Fedulaev ◽  
N. V. Khabazov ◽  
A. Yu. Chuprakova ◽  
M. V. Ezhikova ◽  
A. A. Kurshin ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Histological Examination ◽  
Clinical Picture ◽  
Clinical Case ◽  
Final Diagnosis ◽  
Amyloid Deposition ◽  
Systemic Amyloidosis ◽  
Primary Amyloidosis ◽  
Amyloid Protein

Amyloidosis combines diseases that are characterized by extracellular deposition of a specific insoluble fibrillar amyloid protein. The prevalence of amyloidosis is an average of 10 cases per 100 thousand people. The clinic of the disease is polymorphic and depends on the organ with amyloid deposition. The article discusses the clinical case of systemic amyloidosis with damage to the stomach, liver and other organs. The differential diagnosis was carried out with tuberculosis, cancer, cirrhosis. The final diagnosis was made by histological examination of biopsy samples of the liver and stomach. Difficulties in diagnosing primary amyloidosis are due to the attrition and non‑specificity of the clinical picture of the disease. Amyloidosis is diagnosed based on organ biopsy data.

scholarly journals Intravitreal ranibizumab for the management of serous maculopathy secondary to optic disc coloboma-associated choroidal neovascularisation

2021 ◽  
Vol 14 (1) ◽  
pp. e235452
Author(s):  
Sarah Schimansky ◽  
Xia Ni Wu ◽  
Catherine Egan ◽  
Quresh Mohamed
Keyword(s):  
Optical Coherence Tomography ◽  
Optic Nerve ◽  
Optical Coherence Tomography Angiography ◽  
Structural Response ◽  
Choroidal Neovascularisation ◽  
Fundus Examination ◽  
Optical Coherence ◽  
Intravitreal Ranibizumab ◽  
Optic Disc Coloboma ◽  
Optic Nerve Coloboma

We report the case of a 19-year-old patient with symptomatic unilateral serous maculopathy associated with an optic nerve coloboma. Fluorescein angiography detected a focal late leak at the temporal edge of the coloboma which was later found to correspond with an area of choroidal neovascularisation on optical coherence tomography angiography. A course of intravitreal ranibizumab achieved good clinical and structural response. This report contributes to the evidence that maculopathies associated with cavitary optic nerve anomalies may in some instances result from choroidal neovascularisation. It also highlights the importance of angiography to identify potential choroidal neovascular membranes, particularly in the absence of haemorrhages and neovascular membranes on fundus examination and conventional optical coherence tomography.

A case of congenital diffuse lipomatosis in ophthalmic practice

2021 ◽  
pp. 42-45
Author(s):  
E.E. Sidorenko ◽  
◽  
I.V. Sukhanova ◽  
Y.V. Taranova ◽  
◽  
...  
Keyword(s):  
Connective Tissue ◽  
Clinical Diagnosis ◽  
Clinical Picture ◽  
Congenital Malformations ◽  
Clinical Case ◽  
Diagnostic Methods ◽  
Diagnostic Measures ◽  
Appropriate Treatment ◽  
Childhood Form ◽  
Key Words Congenital Malformations

A clinical case of a childhood form of diffuse lipomatosis is considered. The clinical picture and diagnostic methods necessary for the establishment of a clinical diagnosis are reflected. When observing patients with diffuse lipomatosis, it is required to involve specialists of various specialties and conduct thorough diagnostic measures to verify the clinical diagnosis and select the appropriate treatment methods. Key words: congenital malformations of the organ of vision, germ layers, mesenchyme, connective tissue, lipomatosis.

Challenges of differential diagnosis of mediators-induced and bradykinin-induced angioedema shown by a clinical case series

2021 ◽  
Vol 18 (2) ◽  
pp. 131-137
Author(s):  
Irina A. Manto ◽  
Elena A. Latysheva ◽  
Daria O. Timoshenko ◽  
Tatiana V. Latysheva
Keyword(s):  
Mast Cell ◽  
Differential Diagnosis ◽  
Clinical Picture ◽  
Patient Management ◽  
Clinical Case ◽  
Case Series ◽  
Reference Center ◽  
Main Challenge ◽  
Appropriate Therapy ◽  
Selection Of

Angioedema is caused by a local increase in vascular permeability induced by bradykinin or mast cell mediators. The main challenge of the differential diagnosis of angioedema lies in the fact that different pathophysiological processes may lead to a very similar clinical picture. Moreover, verification of the type of angioedema is crucial for selection of appropriate therapy. In 2020, a school for doctors Chronic urticaria: scientific and medical accomplishments and practical aspects of patient management was held on the basis of the National Research Center Institute of Immunology of the FMBA of Russia as part of the work of the reference center that provides expert assistance to patients with urticaria (GALEN UCARE). A clinical case series of related patients with hereditary angioedema due to a mutation in the PLG gene was presented to demonstrate the challenges of the differential diagnosis between types of angioedema. This article focused on the description of this series.

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