A glance on dystonias, how to recognize and handle them

2019 ◽  
pp. 22-29
Author(s):  
F. N. Mercan ◽  
E. Bayram ◽  
M. C. Akbostanci
Keyword(s):  
Differential Diagnosis ◽  
Movement Disorder ◽  
Age Of Onset ◽  
Clinical Manifestations ◽  
Body Part ◽  
Classification Model ◽  
Treatment Choices ◽  
Muscle Groups

Dystonia refers to an involuntary, repetitive, sustained, painful and twisting movements of the affected body part. This movement disorder was first described in 1911 by Hermain Oppenheim, and many studies have been conducted to understand the mechanism, the diagnosis and the treatment of dystonia ever since. However, there are still many unexplained aspects of this phenomenon. Dystonia is diagnosed by clinical manifestations, and various classifications are recommended for the diagnosis and the treatment. Anatomic classification, which is based on the muscle groups involved, is the most helpful classification model to plan the course of the treatment. Dystonias can also be classified based on the age of onset and the cause. These dystonic syndromes can be present without an identified etiology or they can be clinical manifestations of a neurodegenerative or neurometabolic disease. In this review we summarized the differential diagnosis, definition, classifications, possible mechanisms and treatment choices of dystonia.

scholarly journals Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2

Genes ◽  
2021 ◽  
Vol 12 (10) ◽  
pp. 1462
Author(s):  
Stefano Nistri ◽  
Rosina De Cario ◽  
Elena Sticchi ◽  
Gaia Spaziani ◽  
Matteo Della Monica ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Marfan Syndrome ◽  
Age Of Onset ◽  
Clinical Manifestations ◽  
Syndrome Type ◽  
Chromosomal Deletion ◽  
Ectopia Lentis ◽  
Left Common Iliac Artery ◽  
Young Subjects ◽  
Aneurysm Dissection

Marfan syndrome (MFS) and Loeys–Dietz syndrome type 4 (LDS4) are two hereditary connective tissue disorders. MFS displays ectopia lentis as a distinguishing, characterising feature, and thoracic aortic ectasia, aneurysm, dissection, and systemic features as manifestations overlapping with LDS4. LDS4 is characterised by the presence of hypertelorism, cleft palate and/or bifid uvula, with possible ectasia or aneurysms in other arteries. The variable age of onset of clinical manifestations makes clinical diagnosis more difficult. In this study, we report the case of a patient with Marfan syndrome diagnosed at our centre at the age of 33 on the basis of typical clinical manifestations of this syndrome. At the age of 38, the appearance of ectasia of the left common iliac artery and tortuosity of the iliac arteries suggested the presence of LDS4. Next Generation Sequencing (NGS) analysis, followed by Array-CGH, allowed the detection of a novel chromosomal deletion including the entire TGFB2 gene, confirming not only the clinical suspicion of LDS4, but also the clinical phenotype associated with the haploinsufficiency mechanism, which is, in turn, associated with the deletion of the entire gene. The same mutation was detected in the two young sons. This emblematic case confirms that we must be very careful in the differential diagnosis of these two pathologies, especially before the age of 40, and that, in young subjects suspected to be affected by MFS in particular, we must verify the diagnosis, extending genetic analysis, when necessary, to the search for chromosomal alterations. Recently, ectopia lentis has been reported in a patient with LDS4, confirming the tight overlap between the two syndromes. An accurate revision of the clinical parameters both characterising and overlapping the two pathologies is highly desirable.

Adult systemic lupus erythematosus in Egypt: The nation-wide spectrum of 3661 patients and world-wide standpoint

Lupus ◽  
2021 ◽  
pp. 096120332110142
Author(s):  
Tamer A Gheita ◽  
Rasha Abdel Noor ◽  
Esam Abualfadl ◽  
Osama S Abousehly ◽  
Iman I El-Gazzar ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Age Of Onset ◽  
Wide Spectrum ◽  
Age At Onset ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Population Based ◽  
Systemic Lupus ◽  
Cross Sectional

Objective The aim of this study was to present the epidemiology, clinical manifestations and treatment pattern of systemic lupus erythematosus (SLE) in Egyptian patients over the country and compare the findings to large cohorts worldwide. Objectives were extended to focus on the age at onset and gender driven influence on the disease characteristics. Patients and method This population-based, multicenter, cross-sectional study included 3661 adult SLE patients from Egyptian rheumatology departments across the nation. Demographic, clinical, and therapeutic data were assessed for all patients. Results The study included 3661 patients; 3296 females and 365 males (9.03:1) and the median age was 30 years (17–79 years), disease duration 4 years (0–75 years) while the median age at disease onset was 25 years (4–75 years). The overall estimated prevalence of adult SLE in Egypt was 6.1/100,000 population (1.2/100,000 males and 11.3/100,000 females).There were 316 (8.6%) juvenile-onset (Jo-SLE) and 3345 adult-onset (Ao-SLE). Age at onset was highest in South and lowest in Cairo (p < 0.0001). Conclusion SLE in Egypt had a wide variety of clinical and immunological manifestations, with some similarities with that in other nations and differences within the same country. The clinical characteristics, autoantibodies and comorbidities are comparable between Ao-SLE and Jo-SLE. The frequency of various clinical and immunological manifestations varied between gender. Additional studies are needed to determine the underlying factors contributing to gender and age of onset differences.

scholarly journals Pulvinar sign in a case of anti-HU paraneoplastic encephalitis

2016 ◽  
Vol 29 (6) ◽  
pp. 436-439 ◽  
Author(s):  
Pierre-Luc Gamache ◽  
Maude-Marie Gagnon ◽  
Martin Savard ◽  
François Émond
Keyword(s):  
Magnetic Resonance Imaging ◽  
Differential Diagnosis ◽  
Magnetic Resonance ◽  
Clinical Manifestations ◽  
Resonance Imaging ◽  
Paraneoplastic Encephalitis ◽  
Jakob Disease ◽  
Magnetic Resonance Imaging Mri ◽  
Work Up

This article reports the case of a 68-year-old patient with anti-HU antibodies paraneoplastic encephalitis. The clinical manifestations were atypical and the paraclinical work-up, notably the magnetic resonance imaging (MRI) showing bilateral posterior thalamic hyperintensities (pulvinar sign), misleadingly pointed towards a variant Creutzfeld–Jakob disease. After presenting the case, the differential diagnosis of the pulvinar sign is discussed along with other important diagnostic considerations.

Mucolipidosis Type IV: Clinical Spectrum and Natural History

PEDIATRICS ◽  
1987 ◽  
Vol 79 (6) ◽  
pp. 953-959
Author(s):  
Naomi Amir ◽  
Joel Zlotogora ◽  
Gideon Bach
Keyword(s):  
Age Of Onset ◽  
Clinical Manifestations ◽  
Psychomotor Retardation ◽  
Clinical Spectrum ◽  
Lysosomal Storage ◽  
Mucolipidosis Type Iv ◽  
Type Iv ◽  
First Year Of Life ◽  
Developmental Features ◽  
Mucolipidosis Type

The clinical spectrum and developmental features of mucolipidosis type IV, a recessive lysosomal storage disorder, are presented. The evaluation was based on information from the clinical charts and information obtained from the families of 20 patients between the ages of 2 to 17 years. The clinical manifestations of the disease, profound psychomotor retardation and visual impairment, appear during the first year of life. Definitive diagnosis is made by electron microscopy which reveals storage organelles typical of the mucolipidoses. This study details, for the first time, the heterogeneity of the ophthalmologic features, specifically as pertains to the age of onset, degree and clinical course of the corneal opacities, and the retinal involvement. Although the top developmental level was found to be 12 to 15 months in language and motor function, the course of the disease is protracted for some children, who show only a slight improvement, and others, little if any deterioration despite the early infantile onset of the disease. This presentation provides guidelines for the clinical diagnosis of mucolipidosis type IV.

TRANSIENT ISCHEMIC ATTACKS: ETIOPATHOGENESIS, CLINIC. (Literature review)

Vestnik ◽  
2021 ◽  
pp. 91-96
Author(s):  
Г.Ж. Жакенова ◽  
Р.Б. Нуржанова ◽  
К.Б. Сраилова ◽  
Ж.С. Шерияздан ◽  
А.Б. Ташманова ◽  
...  
Keyword(s):  
Risk Factors ◽  
Differential Diagnosis ◽  
Literature Review ◽  
Clinical Manifestations ◽  
Transient Ischemic Attacks ◽  
Review Of The Literature ◽  
Imaging Signs

В данной статье представлен обзор литературы по транзиторным ишемическим атакам: эпидемиология, этиология, патогенез, классификация, основные характеристики с учетом факторов риска, визуализационных признаков МРТ и КТ, клинических проявлений и дифференциальной диагностики данного заболевания на основе современных исследований. This article presents a review of the literature on transient ischemic attacks: epidemiology, etiology, pathogenesis, classification, main characteristics taking into account risk factors, imaging signs of MRI and CT, clinical manifestations and differential diagnosis of this disease based on modern research.

scholarly journals Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

2018 ◽  
Vol 56 (8) ◽  
pp. 521-525 ◽  
Author(s):  
Agostina Stradella ◽  
Jesús del Valle ◽  
Paula Rofes ◽  
Lídia Feliubadaló ◽  
Èlia Grau Garces ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Age Of Onset ◽  
Clinical Manifestations ◽  
Pathogenic Mutation ◽  
Gene Panel ◽  
Cancer Genes ◽  
Pathogenic Mutations ◽  
Predisposing Genes ◽  
Definition Of ◽  
Gene Panels

ImportanceGenetic testing of hereditary cancer using comprehensive gene panels can identify patients with more than one pathogenic mutation in high and/or moderate-risk-associated cancer genes. This phenomenon is known as multilocus inherited neoplasia alleles syndrome (MINAS), which has been potentially linked to more severe clinical manifestations.ObjectiveTo determine the prevalence and clinical features of MINAS in a large cohort of adult patients with hereditary cancer homogeneously tested with the same gene panel.Patients and methodsA cohort of 1023 unrelated patients with suspicion of hereditary cancer was screened using a validated panel including up to 135 genes associated with hereditary cancer and phakomatoses.ResultsThirteen (1.37%) patients harbouring two pathogenic mutations in dominant cancer-predisposing genes were identified, representing 5.7% (13/226) of patients with pathogenic mutations. Most (10/13) of these cases presented clinical manifestations associated with only one of the mutations identified. One case showed mutations in MEN1 and MLH1 and developed tumours associated with both cancer syndromes. Interestingly, three of the double mutants had a young age of onset or severe breast cancer phenotype and carried mutations in moderate to low-risk DNA damage repair-associated genes; two of them presented biallelic inactivation of CHEK2. We included these two patients for the sake of their clinical interest although we are aware that they do not exactly fulfil the definition of MINAS since both mutations are in the same gene.Conclusions and relevanceGenetic analysis of a broad cancer gene panel identified the largest series of patients with MINAS described in a single study. Overall, our data do not support the existence of more severe manifestations in double mutants at the time of diagnosis although they do confirm previous evidence of severe phenotype in biallelic CHEK2 and other DNA repair cancer-predisposing genes.

scholarly journals Penile angioedema in a child: A nightmare to parents!

2022 ◽  
Vol 1 ◽  
pp. 21-23
Author(s):  
K. S. Lakshmi Srividya ◽  
Vidyasagar P
Keyword(s):  
Differential Diagnosis ◽  
Early Diagnosis ◽  
Clinical Manifestations ◽  
Diagnosis And Management ◽  
Fatal Complications

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.

scholarly journals Graves Disease in Childhood

2021 ◽  
Author(s):  
Madhukar Mittal ◽  
Vanishri Ganakumar
Keyword(s):  
Thyroid Hormone ◽  
Side Effects ◽  
Age Of Onset ◽  
Severe Disease ◽  
Clinical Manifestations ◽  
Thyroid Stimulating Hormone ◽  
Graves Disease ◽  
Older Children ◽  
Prepubertal Children ◽  
Pediatric Age Group

Graves’ disease (GD) is an autoimmune disease caused by autoantibodies against thyroid stimulating hormone receptor (TSH-R), resulting in stimulation of thyroid gland and overproduction of thyroid hormones resulting in clinical manifestations. It is uncommon in children and is 6 times more prevalent in females. The symptomatology, clinical and biochemical severity are a function of age of onset of disease. Prepubertal children tend to present with weight loss and bowel frequency, associated with accelerated growth and bone maturation. Older children are more likely to present with the classical symptoms of thyrotoxicosis like palpitations, tremors and heat intolerance. Prepubertal children tend to have a more severe disease, longer duration of complaints and higher thyroid hormone levels at presentation than the pubertal and postpubertal children. The non-specificity of some of the symptoms in pediatric age group can lead to children being initially seen by other specialities before being referred to endocrinology. Management issues are decided based on patient’s priorities and shared decision making between patient and treating physician. Radioactive Iodine Ablation is preferred when there is relatively higher value placed on Definitive control of hyperthyroidism, Avoidance of surgery, and potential side effects of ATDs. Similarly Antithyroid drugs are chosen when a relatively higher value is placed on possibility of remission and avoidance of lifelong thyroid hormone treatment, Avoidance of surgery, Avoidance of exposure to radioactivity. Surgery is preferred when access to a high-volume thyroid surgeon is available and a relatively higher value is on prompt and definitive control of hyperthyroidism, avoidance of exposure to radioactivity and avoidance of potential side effects of ATDs. Continental differences with regards to management do exist; radio-iodine ablation being preferred in North America while Anti-thyroid drug treatment remains the initial standard care in Europe.

scholarly journals Blueberry muffin syndrome in a newborn

2020 ◽  
Vol 15 (4) ◽  
pp. 100-104
Author(s):  
M.A. Ufimtseva ◽  
◽  
Yu.M. Bochkarev ◽  
A.U. Sabitov ◽  
K.I. Nikolaeva ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Key Words ◽  
Treatment Initiation ◽  
Neonatal Period ◽  
Malignant Tumors ◽  
Clinical Manifestations ◽  
Intrauterine Infection ◽  
Extramedullary Hematopoiesis ◽  
Timely Treatment ◽  
Torch Infections

We report a case of blueberry muffin syndrome, a rare dermatosis that occurs during the neonatal period. This syndrome is particularly interesting because, despite similar clinical manifestations, it may have various pathological mechanisms and, therefore, requires differential diagnosis. Awareness of doctors of different specialties about clinical manifestations of blueberry muffin syndrome will ensure correct differential diagnosis, timely treatment initiation, no unnecessary therapy, and exclusion of malignant tumors in a child. Key words: neonatal period, blueberry muffin, intrauterine infection of the fetus, TORCH infections, extramedullary hematopoiesis

Benign Paroxysmal Vertigo of Childhood: A Long-Term Follow-Up

Cephalalgia ◽  
1994 ◽  
Vol 14 (6) ◽  
pp. 458-460 ◽  
Author(s):  
G Lanzi ◽  
U Balottin ◽  
E Fazzi ◽  
M Tagliasacchi ◽  
M Manfrin ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Age Of Onset ◽  
Clinical Aspects ◽  
Migrainous Vertigo ◽  
Long Term Follow Up

We examined clinical aspects of Benign Paroxysmal Vertigo (BPV) in infancy and its most frequent differential diagnosis, in particular analogies and differences with forms of “migrainous vertigo” (MV) of later onset. During a long-term follow-up of 7 cases of BPV, diagnosed according to the Basser criteria, 5 of 7 BPV cases spontaneously resolved and 6 of 7 patients later developed migraine and other migraine-related symptoms. This course differs from that described for MV only in the age of onset of headache and in the chronological relationship with vertigo. The authors suggest that BPV can be interpreted as a migraine precursor and MV as a migraine equivalent.

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