scholarly journals Acute debut of neuroacanthocytosis in clinical practice

2016 ◽  
Vol 97 (6) ◽  
pp. 971-973
Author(s):  
K L Zagidullina ◽  
N A Popova
Keyword(s):  
Clinical Case ◽  
Autosomal Dominant ◽  
Correct Diagnosis ◽  
Cognitive Disorders ◽  
Blood Analysis ◽  
Whole Body ◽  
Laboratory Findings ◽  
Dominant Type ◽  
Dominant Disease ◽  
Almost All

Neuroacanthocytosis is a rare autosomal dominant disease, which in its clinical manifestation is characterized by choreiform hyperkinesis, mental and cognitive disorders, signs of polyneuropathy and cardiomyopathy, and the basis of the disease is presence of modified erythrocytes (acanthocytes) in peripheral blood. The disease is characterized by autosomal dominant type of inheritance (the gene was mapped on chromosome 9q21), sporadic cases are possible. Description of a clinical case of a 63-year old patient with neuroacanthocytosis delivered by an ambulance with a preliminary diagnosis of stroke is provided. The patient complained of severe general fatigue, whole body shivering, and involuntary compulsive uncontrollable movements in the limbs, body, and face. The patient noted changes in her voice, probably due to compulsive movements of her tongue, lightheadedness, and shaky walk. Almost all physical and laboratory findings were within normal. Taking into account acuteness of the disease, its attack at the time of hypertensive emergency and patient’s age, circular cause was suggested, computed tomography of the brain and magnetic resonance imaging were performed. The results of neuroimaging ruled out the pathology of cerebral circulation. Ultrasound of neck vessels revealed nothing abnormal. Purposeful repeated blood analysis revealed that 85% of erythrocytes were acanthocytes and after that the correct diagnosis was made. The peculiarities of this clinical case are acute manifestation of symptoms and relatively late debut of the disease.

scholarly journals Difficulties in clinical diagnosis the atypical form of Andersen-Tawil syndrome

2020 ◽  
pp. 76-77
Author(s):  
Д.А. Колядин ◽  
Т.В. Федотова ◽  
И.А. Кузнецова
Keyword(s):  
Dna Sequencing ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Correct Diagnosis ◽  
Periodic Paralysis ◽  
Atypical Form ◽  
Cardiac Dysrhythmias ◽  
Dominant Disease ◽  
Atypical Presentations ◽  
Rare Autosomal Dominant Disease

Синдром Андерсена-Тавила - редкое аутосомно-доминантное заболевание, при котором развиваются нарушение сердечного ритма, периодический паралич, лицевые и скелетные дизморфии. Вариабельность клинических проявлений усложняет постановку верного диагноза. В статье описывается клинический случай и анализируются особенности течения заболевания у пациента, правильный диагноз которому поставлен благодаря результатам секвенирования. Andersen-Tawil syndrome is a rare autosomal dominant disease characterized by periodic paralysis, cardiac dysrhythmias, distinct facial and skeletal characteristics, that may be variably present in the affected members. In the article there is a clinical case with atypical presentations. The correct diagnosis has been done due to results of DNA sequencing.

scholarly journals Clinical case of myocardial infarction with unspecified familial hypercholesterolemia

2022 ◽  
Vol 17 (4) ◽  
pp. 74-78
Author(s):  
N. G. Lozhkina ◽  
A. N. Spiridonov
Keyword(s):  
Myocardial Infarction ◽  
Familial Hypercholesterolemia ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Clinical Symptoms ◽  
Cholesterol Metabolism ◽  
Single Gene ◽  
Low Density Lipoproteins ◽  
Dominant Disease ◽  
Appropriate Therapy

Familial hypercholesterolemia is a hereditary autosomal dominant disease characterized by a violation of cholesterol metabolism. This nosology was first described in the late 1930s by the Norwegian clinician Karl Moeller, he proposed the idea that hypercholesterolemia and tendon xanthomas are associated with cardiovascular diseases through the inheritance of a single gene. In 1964, two clinical phenotypes of familial hypercholesterolemia were discovered: heterozygous and homozygous, associated with an unfavorable prognosis. To date, it is known that the long-running process of accumulation of low-density lipoproteins in the intima of blood vessels may not have clinical symptoms for many years due to the developed system of collaterals and the absence of hemodynamically significant stenosis. However, without timely diagnosis and appropriate therapy, this condition inevitably leads to the development of a cardiovascular event. The article presents a clinical case demonstrating the development of myocardial infarction in a patient with a late diagnosis of this disease.

scholarly journals Multimorbidity in Pediatric Dermatology: Clinical Case

2020 ◽  
Vol 19 (6) ◽  
pp. 483-489
Author(s):  
Nikolay N. Murashkin ◽  
Alexander I. Materikin ◽  
Eduard T. Ambarchian ◽  
Roman V. Epishev ◽  
Leonid A. Opryatin ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Final Diagnosis ◽  
Molecular Genetic Testing ◽  
Pediatric Dermatology ◽  
Dominant Type ◽  
Recessive Type

Background. Nowadays, dermatoses with mixed clinical picture and resistant to classical management become more common. The presence of various genetic disorders typical for most chronic dermatoses may indicate possible combination of several nosologies.Clinical Case Description. The article presents the clinical case of multimorbid condition in 10 years old patient who has nucleotide variants in CARD14 and EXPH5 genes. Mutations in CARD14 gene are typical for patients with type 2 psoriasis and pityriasis rubra pilaris (autosomal dominant type), while mutations in EXPH5 gene are typical for patients with non-specific epidermolysis bullosa (autosomal recessive type). Mutation in the TGM1 gene that is described in patients with congenital ichthyosis (autosomal recessive type), pathogenic mutations in KRT74 gene typical for ectodermal dysplasia, hypotrichosis and uncombable hair syndrome, and mutations in the KRT86 gene typical for monilethrix were also revealed. Medical history taking and histological examination as well as clinical data evaluating are crucial for correct diagnosis. They allow to understand the absence of the such manifestations in relatives and reveal various pathological processes in the epidermis. Molecular genetic testing with new generation sequencing (NGS) helps to finally establish the diagnosis and determine the further tactics for patient management.Conclusion. Multidisciplinary approach and use of high-technology methods of examination and treatment (such as molecular genetic testing and biological therapy) are required for final diagnosis in severe forms of chronic dermatosis resistant to treatment and for decision on correct tactics for the further management of such patients.

scholarly journals A Mononucleotide Markers Panel to Identify hMLH1/hMSH2 Germline Mutations

2007 ◽  
Vol 23 (3) ◽  
pp. 179-187 ◽  
Author(s):  
M. Pedroni ◽  
B. Roncari ◽  
S. Maffei ◽  
L. Losi ◽  
A. Scarselli ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Autosomal Dominant ◽  
Germline Mutations ◽  
Cell Replication ◽  
Cost Effectiveness Ratio ◽  
Hereditary Nonpolyposis ◽  
Dominant Disease ◽  
Almost All ◽  
The Cost

Hereditary NonPolyposis Colorectal Cancer (Lynch syndrome) is an autosomal dominant disease caused by germline mutations in a class of genes deputed to maintain genomic integrity during cell replication, mutations result in a generalized genomic instability, particularly evident at microsatellite loci (Microsatellite Instability, MSI). MSI is present in 85–90% of colorectal cancers that occur in Lynch Syndrome. To standardize the molecular diagnosis of MSI, a panel of 5 microsatellite markers was proposed (known as the “Bethesda panel”). Aim of our study is to evaluate if MSI testing with two mononucleotide markers, such as BAT25 and BAT26, was sufficient to identify patients withhMLH1/hMSH2germline mutations. We tested 105 tumours for MSI using both the Bethesda markers and the two mononucleotide markers BAT25 and BAT26. Moreover, immunohistochemical evaluation of MLH1 and MSH2 proteins was executed on the tumours with at least one unstable microsatellite, whereas germlinehMLH1/hMSH2mutations were searched for all cases showing two or more unstable microsatellites.The Bethesda panel detected more MSI(+) tumors than the mononucleotide panel (49.5% and 28.6%, respectively). However, the mononucleotide panel was more efficient to detect MSI(+) tumours with lack of expression of Mismatch Repair proteins (93% vs 54%). Germline mutations were detected in almost all patients whose tumours showed MSI and no expression of MLH1/MSH2 proteins. No germline mutations were found in patients with MSI(+) tumour defined only through dinucleotide markers. In conclusion, the proposed mononucleotide markers panel seems to have a higher predictive value to identifyhMLH1andhMSH2mutation-positive patients with Lynch syndrome. Moreover, this panel showed increased specificity, thus improving the cost/effectiveness ratio of the biomolecular analyses.

scholarly journals A clinical case of aromatase excess syndrome associated with 15Q21.2 duplication

2020 ◽  
Vol 66 (2) ◽  
pp. 79-84
Author(s):  
Yulia V. Kasyanova ◽  
Irina Yu. Chernyak ◽  
Inobatchon K. Voronina ◽  
Natalia Yu. Kalinchenko
Keyword(s):  
Clinical Case ◽  
Autosomal Dominant ◽  
Late Onset ◽  
Review Of The Literature ◽  
Dominant Disease ◽  
Early Closure ◽  
Low Levels ◽  
Secondary Hypogonadism ◽  
Rare Autosomal Dominant Disease ◽  
Pubertal Gynecomastia

Aromatase excess syndrome (SIA) is a rare autosomal dominant disease caused by increased extraglandular conversion of androgens to estrogens. SIA is characterizedby early gonadotropin-independent hyperestrogenemia, causing pre-pubertal gynecomastia in boys and premature isosexual development in girls. Adults patients have short stature, due to the early closure of epiphyses because of hyperestrogenemia. Women usually have macromastia, endometrial hyperplastic processes and the late onset of menopause. In men, there is a moderate decrease of gonadotropins, leading to secondary hypogonadism. SIA in children can be suspected on a combination of the clinical picture of an excess of estrogens, increased levels of estrogens with low levels of gonadotropins after the exclusion of an estrogen-producing tumor. The frequency of occurrence of SIA is unknown, due to the rarity of the disease and the complexity of its molecular and genetic verification. In this article, we describe a clinical case of a 10-year-old patient with a late diagnosis of aromatase overactivity syndrome caused by a 15q21.2 microduplication of the CYP19A1 gene, and conduct a brief review of the literature.

FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family

2018 ◽  
Vol 21 (5) ◽  
pp. 456-460 ◽  
Author(s):  
Elisa Ferro ◽  
Anna Paola Capra ◽  
Giuseppina Zirilli ◽  
Alessandro Meduri ◽  
Mario Urso ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Hematological Parameters ◽  
Correct Diagnosis ◽  
Transferrin Saturation ◽  
High Serum ◽  
Italian Family ◽  
Iron Responsive Element ◽  
The Family ◽  
Dominant Disease ◽  
Responsive Element

We describe a new Italian family with 7 members affected by hereditary hyperferritinemia cataract syndrome (HHCS), an uncommon autosomal dominant disease caused by mutations of the iron-responsive element (IRE) of the ferritin light chain (FTL) gene determining its overexpression. The family diagnosis of HHCS took place after finding high ferritin levels in a 6-year-old girl. Seven members of the family had bilateral and symmetrical cataracts, normal iron, and hematological parameters except for high serum ferritin levels. About 160 families/unrelated cases with HHCS are known worldwide. This report documents a second Italian family, with a c.-168G>C mutation that is located in the highly conserved 3-nucleotide bulge structure of the FTL in the 5′ untranslated region. This case shows how important the family history is in reaching a correct diagnosis and avoiding unnecessary and invasive analysis. HHCS should be considered in the differential diagnosis of childhood hyperferritinemia, especially in the presence of normal transferrin saturation.

scholarly journals Clinical case of Brock’s congenital ichthyosiform erythroderma

2019 ◽  
Vol 95 (3) ◽  
pp. 46-53
Author(s):  
Yu. A. Novikov ◽  
E. A. Zykova ◽  
O. V. Pravdina
Keyword(s):  
Differential Diagnosis ◽  
Clinical Diagnosis ◽  
Clinical Picture ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Sporadic Case ◽  
Hereditary Disease ◽  
Dominant Type ◽  
Autosomal Dominant Type ◽  
Congenital Ichthyosiform Erythroderma

This article describes a sporadic case of Brock’s bullous congenital ichthyosiform erythroderma. This is a rare hereditary disease from the group of genodermatoses with an autosomal dominant type of inheri - tance. The questions of the prevalence of dermatosis, the variability of the clinical picture, the timeliness of the clinical diagnosis are considered. Particular attention is paid to skin manifestations and their differential diagnosis.

Valutazione ecografica e TC di pielonefrite acuta in paziente affetta da rene policistico

1997 ◽  
Vol 64 (1_suppl) ◽  
pp. 42-44
Author(s):  
C. Lodolo ◽  
S. De Stefani ◽  
U. Moro ◽  
A. Lissiani ◽  
F. Pozzi Mucelli ◽  
...  
Keyword(s):  
Renal Failure ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Atypical Presentation ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Almost All ◽  
Multiple Cysts

Autosomal dominant polycystic kidney disease is a rare nephropathy consisting of multiple cysts that alter almost all the parenchyma of the organ, leading to renal failure. A clinical case with atypical presentation is described.

scholarly journals Tuberous sclerosis syndrome: a typical case of a rare disease

2018 ◽  
Vol 94 (4) ◽  
pp. 49-54
Author(s):  
V. A. Okhlopkov ◽  
E. A. Zykova ◽  
O. V. Pravdina
Keyword(s):  
Differential Diagnosis ◽  
Rare Disease ◽  
Tuberous Sclerosis ◽  
Clinical Picture ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Hereditary Disease ◽  
Typical Case ◽  
Dominant Type ◽  
Autosomal Dominant Type

The article is devoted to a rare hereditary disease from the group of phak omatoses with an autosomal dominant type of inheritance — Pringle — Burnevill disease. The questions of the prevalence of the disease, the variability of the clinical picture, the timeliness of the clinical diagnosis are considered. Particular attention is paid to skin manifestations and their differential diagnosis. A clinical case of this disease is described.

Middle ear tuberculosis - clinical case

ORL ro ◽  
2016 ◽  
Vol 2 (1) ◽  
pp. 12-14
Author(s):  
A. Sandul ◽  
M. Buracovschi ◽  
N. Buracovschi
Keyword(s):  
Otitis Media ◽  
Middle Ear ◽  
Human Population ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Tuberculous Otitis Media ◽  
Type V

Tuberculosis is one of the oldest pathologies that affect human population, being a significant cause of morbidity/mortality in several countries. Middleear tuberculosis is a rare pathology, often misdiagnosed because of an atipic evolution, as a result leading to severe complications. This paper presents a case of tuberculous otitis media complicated with facial nerveparalysis House Brackmann type V in a patient who underwent multiple middleear surgeries before correct diagnosis was established.  

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