A CASE REPORT: KAZABACH-MERRITT SYNDROME (KMS)

Vestnik ◽  
2021 ◽  
pp. 73-77
Author(s):  
Г.Ж. Бодыков ◽  
Г.Н. Балмагамбетова ◽  
С.А. Лисогор ◽  
В.М. Шмонин

Синдром Казабаха - Мерритта в детской практике встречается крайне редко. Клинические проявления многообразны, что затрудняет своевременную диагностику и лечение данного заболевания. Цель: привлечь внимание неонатологов и педиатров к своевременной диагностике редких гематологических синдромов. Материалы и методы. Проведено расширенное обследование ребенка и тщательная дифференциальная диагностика с другими сосудистыми аномалиями. Результаты. На основании оценки анамнеза, клинико - лабораторных и инструментальных методов обследования установлен диагноз СКМ. Выводы. Постановка диагноза СКМ требует проведения расширенного обследования ребенка и тщательной дифференцировки с другими сосудистыми аномалиями. Kazabach-Merritt syndrome is extremely rare in pediatric practice. Clinical manifestations are diverse- and this fact complicates the early diagnosis and treatment of the disease.Purpose: to draw the attention of neonatologists and pediatricians to the early diagnosis of rare hematological syndromes.Materials and methods. An extended examination of the child and a thorough differential diagnosis with other vascular anomalies were carried out. Results. The KMS was diagnosed on the base of: the assessment of the anamnesis, clinical - laboratory and instrumental examination methods.Conclusion. The diagnosis of KMS requires an extended examination of the child and careful differentiation of other vascular anomalies.

2017 ◽  
Vol 12 (1) ◽  
pp. 40-44
Author(s):  
Samsun Nahar ◽  
Momenuzzaman ◽  
Fatema Begum ◽  
KN Khan ◽  
Quazi Anisuzzaman ◽  
...  

PE remains a clinically challenging diagnosis, more often missed than found, with no decline in its incidental discovery at autopsy over the past 30 years. Pulmonary embolism should be considered in the differential diagnosis of every dyspnoea event that presents at an emergency department. We describe a case of 68 years old man with symptoms of dyspnoea who later diagnosed as pulmonary embolism. This case report emphasizes early diagnosis and treatment to avoid fatal outcome.University Heart Journal Vol. 12, No. 1, January 2016; 40-44


1970 ◽  
Vol 5 (3) ◽  
pp. 53-67
Author(s):  
Aline Dos Santos ◽  
Ana Caroline Balducci Scafi ◽  
Luciene Azevedo Morais ◽  
Pablo Girardelli Mendonça Mesquita

RESUMOIntrodução: A Granulomatose de Wegener (GW) é uma vasculite rara e idiopática associada à presença do anticorpo Anticitoplasma de Neutrófilo (ANCA) que acomete, preferencialmente, os pequenos vasos. As manifestações clínicas são diversas, ocorrendo em mais de 90% dos casos, sintomas do trato respiratório. O comprometimento renal é tardio e preditor de mau prognóstico.  Sua morbidade a médio e longo prazo inclui insuficiência renal crônica. A probabilidade de sucesso de manutenção da função renal depende da concentração sérica de creatinina ao início do tratamento, o que indica a importância do diagnóstico e terapêutica adequada precoces. Casuística: Relata-se o caso de uma paciente do sexo feminino, 61 anos, portadora de GW com comprometimento renal avançado à apresentação não precedido por sintomas pulmonares esperados. O tratamento imunossupressor associado a plasmaferese permitiu a melhora da função renal da paciente poupando-a de tornar-se dialítica- dependente. Discussão: A paciente iniciou a doença através de insuficiência renal assintomática, com valores de função renal compatíveis com o estágio mais avançado de doença renal crônica, ultrassonografia dos rins sem alterações compatíveis e sem os sintomas respiratórios esperados. Segundo a literatura, a combinação de imunossupressores e plasmaferese associa-se à recuperação renal em três meses com sobrevivência sem necessidade de diálise por 12 meses, no caso relatado, obteve-se tal resultado em 22 dias sem a necessidade de diálise após um ano. Conclusão: Devido ao diagnóstico precoce, o tratamento adequado foi instalado rapidamente proporcionando à paciente um aumento da expectativa e da qualidade de vida, evitando dependência de terapia renal substitutiva.Palavras-Chave: Granulomatose de Wegener, Plasmaferese, Doença renal crônica.  ABSTRACTIntroduction: The Wegener's Granulomatosis (WG) is a rare and idiopathic vasculitis associated with the presence of Antineutrophil Cytoplasmic Antibody (ANCA), that affects, preferentially, the small vessels. The clinical manifestations are diverse, occurring in over 90% of cases, symptoms in the respiratory tract. Kidney damage is a late and bad prognostic predictor. Morbidity in the medium and long term includes chronic renal failure. The probability of renal function maintenance success depends on serum creatinine concentration at the beginning of treatment that indicates the importance of early diagnosis and deployment of an appropriate therapy. Case Report: We present a case of a 61-year-old female patient, carrier of GW with advanced renal impairment presentation, not preceded by expected pulmonary symptoms. The immunosuppressive treatment associated with plasmapheresis allowed the improvement of the patient’s renal function, saving her from becoming dialysis-dependent Discussion: The patient developed the disease through asymptomatic renal failure, renal function with values that are compatible with the most advanced stage of chronic kidney disease, ultrasound of the kidneys without compatible changes and without the expected respiratory symptoms. According to the literature, the combination of immunosuppressive drugs and plasmapheresis is associated with renal recovery in three months with survival without dialysis for 12 months. In this case, a result was obtained in 22 days without the need for dialysis after one year. Conclusion: Due to the early diagnosis, appropriate treatment was quickly installed giving the patient increased life expectancy and quality, preventing dependence on renal replacement therapy.Keywords: Wegener’s granulomatosis, Plasmapheresis, Chronic renal failure.


PEDIATRICS ◽  
1996 ◽  
Vol 98 (3) ◽  
pp. 461-463
Author(s):  
Gary L. Darmstadt

Genital warts are common relative to other verrucous lesions of the anogenital region. Consideration of the differential diagnosis of verrucous anogenital lesions is necessary, however, to make a correct diagnosis consistently and to avoid futile, painful, and possibly traumatic attempts at treatment. In this report, I describe a child with a history suspicious for sexual abuse who was treated with inappropriate measures because of misdiagnosis of perianal lymphangioma circumscriptum as genital warts. The pathogenesis, differential diagnosis, and treatment of lymphangioma is presented. CASE REPORT A 5-year-old Hispanic boy was referred by his pediatrician to the Dermatology Service with an eruption of red papules on the left buttock and perianal region.


2022 ◽  
Vol 1 ◽  
pp. 21-23
Author(s):  
K. S. Lakshmi Srividya ◽  
Vidyasagar P

Angioedema is a transient, non-pitting oedema that involves subcutaneous or submucosal tissue. Angioedema in children can have varied aetiology and clinical manifestations, unlike that in adults. We report a case of angioedema of penis in a child resulting from insect bite and treated successfully with anti-histamine and leukotriene inhibitor. Penile angioedema should be kept in mind as a differential diagnosis of penile swelling, as early diagnosis and management may prevent fatal complications.


2001 ◽  
Vol 82 (2) ◽  
pp. 137-138
Author(s):  
E. V. Levitina ◽  
G. A. Ivanichev ◽  
M. M. Minnibaev

2/3 of all diseases of the nervous system in children begin to develop in the perinatal period. In recent decades, great strides have been made in perinatal neurology in the development of criteria for early diagnosis and treatment of diseases. Further study of the biochemical foundations of perinatal lesions of the nervous system with the definition of objective markers of the severity of the lesion will reveal new links in its pathogenesis and develop more effective methods of treatment.


1984 ◽  
Vol 13 (4) ◽  
pp. 309-326 ◽  
Author(s):  
Robert Jack ◽  
Pauline L. Rabin ◽  
T. Dwight McKinney

Dialysis encephalopathy (DE) is a distinct neuropsychiatric syndrome typically occurring in patients undergoing longterm hemodialysis. It is characterized by electroencephalographic abnormalities in association with disturbances of speech, cognition, movement, affect, or behavior. Previously thought to be relentlessly progressive, recent evidence linking the illness to aluminum overload has led to advances in prevention and treatment. Early diagnosis aids in the reversal or amelioration of the syndrome and can be of immense value to the patient, the family and involved health personnel. The general features of the syndrome, etiologic considerations, differential diagnosis and treatment are discussed. Three case studies are included to illustrate salient features of the syndrome.


2017 ◽  
Author(s):  
Kristine Phillips

Scleroderma spectrum diseases are a heterogeneous group of disorders that are distinguished by abnormalities of the connective tissue in the skin and, in some cases, other organs. Each disorder may be characterized by the extent of cutaneous and internal involvement, as well as histopathologic features of skin biopsy. Scleroderma spectrum diseases include systemic scleroderma, localized scleroderma, and eosinophilic fasciitis. This chapter reviews the classification, epidemiology, etiology, pathophysiology and pathogenesis, diagnosis, differential diagnosis, treatment, outcome measures, management, and clinical course of scleroderma as well as the definition and classification, etiology/genetics, differential diagnosis, and treatment of localized scleroderma. Also discussed are the definition and classification, epidemiology, etiology/genetics/pathogenesis, diagnosis, differential diagnosis, and treatment of eosinophilic fasciitis. Tables review the classification of—and antinuclear antibodies in—scleroderma as well as the key assessments and interventions in scleroderma management. Figures illustrate the disease's presentation and clinical manifestations, including several images of scleroderma of the hands; face, palmar, and buccal telangiectasias in a patient with scleroderma; a radiograph demonstrating calcinosis of the elbow; Raynaud’s phenomenon; high-resolution computed tomographic images of diffuse cutaneous scleroderma, scleroderma and severe pulmonary hypertension, and limited cutaneous scleroderma; plus an esophagram demonstrating hypomotility. This review contains 11 highly rendered figures, 3 tables, and 72 references.


2016 ◽  
Vol 40 (5) ◽  
pp. 353-355 ◽  
Author(s):  
Roy Petel ◽  
Anna Fuks

Background: Pink spots in teeth were first described by Mummery in 1920, and were related to resorption. Resorption is a pathologic process that often eludes the clinician with its varied etiologic factors and diverse clinical presentations. Resorption can be generally classified as internal and external resorption. Internal resorption has been described as a rare occurrence as compared to external resorption. Case report: This article describes a pink spot that was diagnosed as a progressing resorption process. Early diagnosis enabled a successful management of the lesion. Conclusion: Early diagnosis and treatment of an internal resorption, clinically seen as a pink spot, in a primary central incisor may prevent its fast progress and subsequent loss.


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