Dopa-responsive dystonia (Segawa’s syndrome): description of a clinical case

2020 ◽  
Vol 18 (5) ◽  
pp. 143-145
Author(s):  
Z. G. KHAYATOVA ◽  
◽  
Z. A. ZALYALOVA ◽  
A. Yu. KAZANTSEV ◽  
T. V. MATVEYEVA ◽  
...  
Keyword(s):  
Early Childhood ◽  
Case Report ◽  
Movement Disorders ◽  
Clinical Case ◽  
Clinical Presentation ◽  
Genetic Test ◽  
Pathogenic Mutation ◽  
Low Doses ◽  
Upper Limbs

The authors present a case-report of genetically tested dopa-responsive dystonia, also known as Segawa’s syndrome, in a 32-year-old woman. The genetic forms and their clinical presentation are described. Symptoms began in early childhood with running disability. The patient’s first complaint was twisting of her toes during walking when she was 12 years old. The condition remained stable up to 20 y. o., when some improvement was noticed. Symptoms progressed with involvement of upper limbs at the age of 25. By the age of 32 the patient was directed to Movement Disorders Clinic, where Dopa-responsive dystonia was suspected. The manifestations were dramatically responsive to low doses of levodopa-carbidopa, confirming the diagnosis of dopa-responsive dystonia. The genetic test identified a GCH1 (chr14:55369161G>A) pathogenic mutation.

scholarly journals A clinical presentation of drug-induced cardiotoxicity event in an oncohematology patient: A case report

2020 ◽  
Author(s):  
Ainur Bilmakhanbetova ◽  
Meruyert Beisenbay ◽  
Daulet Marat ◽  
Gulnur Zhakhina
Keyword(s):  
Case Report ◽  
Acute Leukemia ◽  
Inpatient Treatment ◽  
Clinical Case ◽  
Clinical Presentation ◽  
Underlying Disease ◽  
Clinical Death ◽  
Qtc Prolongation ◽  
Drug Induced ◽  
Selection Of

This case report deals with a clinical case of a patient who underwent inpatient treatment of the underlying disease acute leukemia. In the selection of treatment for complications, medications of various groups were prescribed. This therapy led to the clinical death of the patient, caused by drug-induced QT/QTc prolongation.

scholarly journals CASE REPORT ABOUT LEBER HEREDITARY OPTIC NEUROPATHY:DIAGNOSTICS AND TREATMENT

2017 ◽  
Vol 9 (1) ◽  
pp. 125-128
Author(s):  
V I Golovkin ◽  
A N Shandurina ◽  
M V Fomintseva ◽  
E M Pervova ◽  
S N Zhulev ◽  
...  
Keyword(s):  
Gene Expression ◽  
Case Report ◽  
Optic Neuropathy ◽  
Clinical Case ◽  
Genetic Test ◽  
Leber Hereditary Optic Neuropathy ◽  
Rare Form ◽  
Hand Tremor ◽  
Major Mutation ◽  
Hereditary Optic Neuropathy

The article presents clinical case of rare form of Leber hereditary optic neuropathy with permanent hand tremor. diagnosis is confirmed by genetic test for major mutation. The possibility of treatment with transcutaneous electrostimulation of optic nerves in case of epigenetic provocation on a intoxicat- ing theory of gene expression is discussed.

scholarly journals Clinical presentation of a horse-derived biomaterial and its Biocompatibility: A Clinical Case Report

2009 ◽  
Vol 39 (Suppl) ◽  
pp. 287 ◽  
Author(s):  
Ki-Tae Koo ◽  
Jang-Yeol Park ◽  
Jun-Seok Park ◽  
Tae-Il Kim ◽  
Yang-Jo Seol ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Case ◽  
Clinical Presentation

scholarly journals Short-term Prophylaxis for Delivery in Pregnant Women with Hereditary Angioedema with Normal C1-Inhibitor

2020 ◽  
Vol 42 (12) ◽  
pp. 845-848
Author(s):  
Caroline Guth de Freitas Batista de Moraes ◽  
Liya Regina Mikami ◽  
Lilian Pereira Ferrari ◽  
João Bosco Pesquero ◽  
Herberto José Chong-Neto ◽  
...  
Keyword(s):  
Case Report ◽  
Pregnant Women ◽  
Hereditary Angioedema ◽  
Genetic Test ◽  
Pathogenic Mutation ◽  
Normal Serum ◽  
C1 Inhibitor ◽  
Short Term ◽  
Exon 9 ◽  
Short Term Prophylaxis

Abstract Objective To verify the efficacy of short-term prophylaxis for vaginal or cesarean section childbirth with plasma-derived C1-inhibitor concentrate in pregnant women. They should have hereditary angioedema (HAE) and normal plasma C1-inhibitor. Methods Case report of pregnant women diagnosed with HAE with normal C1-inhibitor who had been treated with intravenous C1-inhibitor concentrate for prophylaxis of angioedema attacks when hospitalized for delivery. The exon 9 of the Factor 12 (F12) genotyping gene was performed by automatic sequencing in all patients. Results Three cases of pregnant women with HAE with normal serum level of C1-inhibitor are reported. The genetic test detected the presence of a pathogenic mutation in the F12 gene. Deliveries occurred uneventfully and patients had no HAE symptoms in the following 72 hours. Conclusion C1-inhibitor concentrate could be useful to prevent angioedema attacks during and after delivery.

scholarly journals Multiple Cavernous Malformations: A Case Report

2020 ◽  
Vol 3 (1) ◽  
pp. 5-13
Author(s):  
Fernando Gutiérrez Rincón Oscar ◽  
◽  
Moreno García Santiago ◽  
José Hoyos Bedoya Maria ◽  
Juliana Builes Cerón Sarah ◽  
...  
Keyword(s):  
Case Report ◽  
Medical Management ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Epileptic Seizures ◽  
Cavernous Malformations ◽  
Arteries And Veins ◽  
Main Clinical Manifestation

Cavernous malformations are alterations in the conformation of arteries and veins that can be found both intracranial and intraspinal; however, the variables are very important for the diagnosis and treatment of patients. The main clinical manifestation is epileptic seizures in cases of bleeding, but in many cases they are asymptomatic in the course of life and are found as findings related to neuroimaging studies for other reasons. It is more common to find unique lesions, but in cases of multiple lesions it is likely to find an autosomal dominant hereditary factor, which makes the person more likely to convulse due to sporadic bleeding. Medical management focuses on the clinical presentation and management of epileptic seizures, while surgical management takes into account the size, location and bleeding. Below is a clinical case that represents one of the different clinical manifestations and the approach that was given in said patient.

scholarly journals Spontaneous Drainage of Lower Lip Abscess by Insect Sting in the Prediabetic Male: A Case Report

2021 ◽  
Vol 55 (8) ◽  
Author(s):  
Meircurius Dwi Condro Surboyo ◽  
Bagus Soebadi ◽  
Hening Tuti Hendarti ◽  
Desiana Radithia
Keyword(s):  
Case Report ◽  
Allergic Reaction ◽  
Abdominal Segment ◽  
Clinical Case ◽  
Clinical Presentation ◽  
Human Tissues ◽  
Tissue Necrosis ◽  
Lower Lip ◽  
Insect Sting

Most insects have a stinging apparatus at the tail end of their abdominal segment and can deliver venom. The venom can usually result in pain, erythema, abscess, or allergic reaction in human tissues such as the skin and even the lips. The presentation of lip abscess, especially in the vermilion, is rare and needs to be appropriately managed. A 39-year-old prediabetic male presented with a swollen right lower lip stung by an insect six days before the consult. The swelling started as a vesicle which became bigger, then burst, exuding a yellowish fluid and blood. The swollen area became more significant, and pain was felt. The clinical presentation was that of a lower lip abscess. Adequate antibiotics were prescribed along with a corticosteroid and a topical antiseptic. The treatment was essential to prevent the dissemination of infection and the likelihood of tissue necrosis. This case report is presented as a rare clinical case of a lower lip abscess due to an insect sting with spontaneous drainage after treatment in a prediabetic male. The dentist and clinician needed to identify this condition and to manage the case properly.

scholarly journals Tinea Corporis Caused by Trichophyton Benhamiae Transmitted by a Dog: First Case Report in Portugal

2021 ◽  
Author(s):  
Ermelindo Tavares-Bello ◽  
Raquel Sabino ◽  
Helena Simões ◽  
Cristina Veríssimo ◽  
Esperança Ussene
Keyword(s):  
Case Report ◽  
Clinical Practice ◽  
Clinical Case ◽  
Clinical Presentation ◽  
Correct Diagnosis ◽  
Tinea Corporis ◽  
Arthroderma Benhamiae ◽  
First Case ◽  
Trichophyton Benhamiae ◽  
Human Animal

Dermatophytoses are superficial and contagious infections caused by dermatophyte fungi. They are the most frequent infectious dermatosis in clinical practice, and can affect the skin, hair and nails. Its correct diagnosis allows the understanding of clinical, ecological and epidemiological aspects associated with these microorganisms. Clinical presentation is variable and depends on the habitat (human, animal or soil origin), virulence of the fungus and on thehost’s immune status.We report the clinical case of a 62-year-old man with tinea corporis, which stands out for its exuberant clinical presentation and by the isolated agent, Trichophyton benhamiae (formerly known as Arthroderma benhamiae), an etiological agent of dermatophytosis that has not been scientifically reported in Portugal yet.

scholarly journals Case report of Hashimoto encephalopathy in a 21-year-old female patient

2021 ◽  
Vol 15 (4) ◽  
pp. 99-104
Author(s):  
Tatiana E. Popova ◽  
Alexey A. Tappakhov ◽  
Tatiana K. Davydova ◽  
Tatiana G. Govorova ◽  
Alyona Yu. Petrova ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Female Patient ◽  
Neurological Disorder ◽  
Clinical Case ◽  
Clinical Presentation ◽  
Diagnosis And Treatment ◽  
High Efficacy ◽  
Timely Diagnosis ◽  
Hashimoto Encephalopathy

Hashimoto encephalopathy is a rarely diagnosed autoimmune neurological disorder, associated with the presence of antithyroid antibodies. The variability of clinical presentation, rarity of the disease, and absence of specific diagnostic markers make timely diagnosis very complicated. This article describes a clinical case of a female patient with Hashimoto encephalopathy and discusses diagnosis, differential diagnosis and treatment approaches. We emphasize the importance of establishing a timely diagnosis, considering high efficacy of targeted treatment.

scholarly journals Severe Respiratory and Hemodynamic Failures following Successful Spontaneous Pneumothorax Drainage

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Nicolas Mayeur ◽  
Samuel Groyer ◽  
Sylvie Vimeux ◽  
Jérôme Roustan
Keyword(s):  
Mechanical Ventilation ◽  
Case Report ◽  
Conservative Treatment ◽  
Spontaneous Pneumothorax ◽  
Clinical Case ◽  
Clinical Presentation ◽  
Severe Case ◽  
Pleural Drainage ◽  
Initial Resuscitation ◽  
Reexpansion Pulmonary Edema

Spontaneous pneumothorax is a frequent situation in respiratory medicine, and its treatment is based on conservative treatment or pleural drainage. Reexpansion pulmonary edema (REPE) is often a mild complication following pneumothorax drainage. We report here a severe case of unilateral REPE following spontaneous pneumothorax drainage associated with major pulmonary plasmatic leakage. The clinical presentation was severe and sudden with respiratory and circulatory failures. Initial resuscitation was mostly based on prone and head-down positioning in association to fluid expansion and mechanical ventilation. On the basis of this clinical case report, we strongly suggest to think about severe pulmonary reexpansion edema when respiratory and hemodynamic failures occur few hours after pneumothorax-related efficient pleural tube drainage.

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