scholarly journals A case report of DOPA-responsive dystonia in a young woman

2020 ◽  
pp. 45-48
Author(s):  
NA Belykh ◽  
MA Akhkyamova ◽  
VV Gusev ◽  
OA Lvova
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Genetic Predisposition ◽  
Emergency Treatment ◽  
Sanger Sequencing ◽  
Clinical Case ◽  
Young Female ◽  
Considerable Improvement ◽  
The Right ◽  
Pediatric Onset

Dopa-responsive dystonia (DRD) is a rare progressive genetically heterogenous disorder with pediatric onset. DRD is 3 times as prevalent in women than in men. This article reports a clinical case of DRD in a young female presenting with paraparesis, foot dystonia (more pronounced in the right foot) and pronounced walking impairment, who was admitted for emergency treatment to a Neurology Unit. Based on the additional tests, which included a levodopa trial and Sanger sequencing, the patient was diagnosed with DRD. Levodopa caused a considerable improvement of the symptoms. The article describes the clinical features of the disease, talks about its differential diagnosis, genetic predisposition and treatment strategy.

scholarly journals Abernethy Malformation Type II and Concurrent Nodular Hyperplasia in a Rare Female Case

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Zhen Kang ◽  
Xiangde Min ◽  
Liang Wang
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Type I ◽  
Type Ii ◽  
Malignant Tumours ◽  
Abernethy Malformation ◽  
Vascular Abnormality ◽  
Female Case ◽  
Nodular Hyperplasia ◽  
The Right

Background. Abernethy malformation is a rare splanchnic vascular abnormality characterizing extrahepatic abnormal shunts that is classified into types I and II. Abernethy malformation type I has a female predilection and is associated with a variety of concurrent hepatic benign or malignant tumours while type II with concurrent tumours is very rare in females. Case Report. We report a rare female case of Abernethy malformation type II with concurrent occupying lesion in the right liver, which was successfully transplanted; the occupying lesion was pathologically proven to be nodular hyperplasia. Conclusion. This case might provide further knowledge regarding Abernethy malformation. On imaging, the anatomy of portal vein should be carefully investigated to categorize Abernethy malformation, and a wide variety of differential diagnosis of concurrent occupying lesions should be taken into account.

scholarly journals P32 Relapsing polychondritis with anterior scleritis in young female

2021 ◽  
Vol 5 (Supplement_1) ◽  
Author(s):  
Umair Arain ◽  
Abimbola Phillips ◽  
Ben Burton ◽  
Damodar Makkuni
Keyword(s):  
Rheumatoid Arthritis ◽  
Case Report ◽  
Visual Fields ◽  
Delayed Diagnosis ◽  
Relapsing Polychondritis ◽  
Young Female ◽  
Blurred Vision ◽  
Ocular Findings ◽  
Anterior Scleritis ◽  
The Right

Abstract Case report - Introduction Relapsing polychondritis (RP) was first recognized as a clinical entity in 1923 by Jaksch-Wartenhorst (1923) and reported by him under the title "polychondropathia". The term "relapsing polychondritis" was first used by Pearson, Kline, and Newcomer (1960). Because the ocular findings can be the initial findings of RP, ophthalmologists should know the major ocular findings of this disease. Isaak et al reported that the most common ocular finding is episcleritis (39%) and the second is scleritis (14%). Other signs are iritis (9%), retinopathy (9%), muscle paresis (5%), and optic neuritis (5%). Case report - Case description A 45-year-old female with known rheumatoid arthritis referred by rheumatology in eye clinic due to blurred vision and dry eye. The patient was on hydroxychloroquine and sulfasalazine. No retinal toxicity was found on examination, OCT and Visual Fields. The vision was 6/6 both eyes. Follow-up was in 12 months. She presented 6 months later in casualty with severe pain in her right eye. Examination showed diffuse anterior scleritis with secondary conjunctival inflammation. Anterior chamber cells present. Posterior segment showed no inflammation. Left eye was unremarkable. She was started on Froben 100mg tds with omeprazole. She was seen after a week and condition was improving. She was asked to taper off the meds. Inflammation resolved with 6/5 vision in both eyes and the next appointment was made in a year to monitor for hydroxychloroquine toxicity. In November 2020 she was seen by ENT with inflammation of the right ear cartilage. The pictures showed that the pinna was spared and cartilage was only involved. There was nasal crusting and stuffy nose but without any respiratory symptoms. She was prescribed 50mgs of prednisolone and this helped with her inflammation. She was seen by rheumatology later on and hydroxychloroquine and sulfasalazine was stopped, and she was started on methotrexate 10mgs weekly and folic acid 5mg weekly. Pulmonary function test and echocardiogram was ordered. The case was discussed in MDT rheumatology and it was decided that if joint symptoms got worse than biologics could be started. Methotrexate increased to 15mg subcut. Echocardiogram was normal with satisfactory blood tests. Her next appointment is in October 2021. Case report - Discussion Initially the patient was diagnosed with rheumatoid arthritis with ocular inflammation (anterior scleritis) and was given the standard treatment of steroids to which the patient responded as well. Later when she developed the ear inflammation which involved only the cartilage the diagnosis was revised by rheumatology and changed to RP. As this is a rare life-threatening disease management was switched to immunosuppressive therapy to which she is currently responding well. Case report - Key learning points It is important to consider the possibility that a rheumatology patient may have more than one diagnosis or be open to the idea of revising the diagnosis as the clinical picture evolves over the time. Given the nature of the disease all the systemic features should be examined thoroughly as any one missed area can lead to delayed diagnosis.

scholarly journals Differential diagnosis of cacosmia and dysgeusia in COVID-19 pandemic. Clinical case report

2021 ◽  
Vol 429 ◽  
pp. 119781
Author(s):  
Maria Vasilieva ◽  
Irina Bejenari ◽  
Stanislav Groppa
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Clinical Case

scholarly journals Solar keratoma: An atypical case

2015 ◽  
Vol 86 (1) ◽  
Author(s):  
Sean M. Miller ◽  
Ralph H. Katzwinkel
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Atypical Case ◽  
Short Period ◽  
The Right

This case report shows that keratomas can occur in both hind feet of equine patients and should be considered as a diagnosis for long-standing, intermittent lameness localised to the hooves. A Thoroughbred racehorse presented with long-standing abscessation of the right hind hoof. Owing to the long-standing nature, the abscess draining tract was surgically explored. A focal mass was found within the solar horn. Histopathology revealed the mass to be a keratoma. A similar mass was removed from the left hind hoof a few months later after similar presenting signs. This case shows that keratomas can occur in more than one hoof within a short period and should be considered a differential diagnosis for long-standing lameness localised to the hoof.

Replantation of an Avulsed Permanent Maxillary central Incisor After Prolonged Dry Storage: A Case Report

2013 ◽  
Vol 5 (1) ◽  
pp. 5-7
Author(s):  
Mukut Seal ◽  
N. M. Dhanya Kumar
Keyword(s):  
Case Report ◽  
Emergency Treatment ◽  
Young Female ◽  
Definitive Treatment ◽  
Central Incisor ◽  
Maxillary Central Incisor ◽  
Dry Storage ◽  
Anterior Teeth ◽  
Long Term Prognosis

ABSTRACT All of us as clinicians at one time or another have to attend to dental emergencies involving severly fractured or even lost or avulsed anterior teeth. Treating such cases is often difficult and there is always a time factor involved. Loss of anterior teeth can affect a patient psychologically and socially. This can be minimised by an immediate replacement or replantation of the lost or avulsed teeth. Definitive treatment planning and consultation with specialists is seldom possible at the time of emergency treatment. Replantation of the avulsed tooth can restore esthetic appearance and occlusal function shortly after the injury. This article describes the management of a young female with an avulsed maxillary permanent incisor that had been air-dried for about 72 hours. The replanted incisor retained its esthetic appearance and functionality 8 months after replantation, yet the long-term prognosis remains questionable.

scholarly journals Enterococcal endocarditis: A case report

2009 ◽  
Vol 62 (11-12) ◽  
pp. 583-586 ◽  
Author(s):  
Dejan Cvjetkovic ◽  
Mirjana Aleksic-Djordjevic ◽  
Jovana Jovanovic ◽  
Ivana Hrnjakovic-Cvjetkovic ◽  
Sandra Stefan-Mikic ◽  
...  
Keyword(s):  
Case Report ◽  
Unknown Origin ◽  
Heart Association ◽  
Complete Recovery ◽  
Young Female ◽  
Young Females ◽  
Echocardiographic Finding ◽  
Echocardiographic Examination ◽  
Infective Disease ◽  
The Right

Introduction. Bacteria from genus Enterococcus may cause infections mostly in those who are immunocompromised and those who underwent endoscopic or surgical procedures. Endocarditis is caused by enterococci in 5-10% of cases. Its clinical presentation does not differ from endocarditis of other bacterial origin. Previous susceptibility testing is needed for appropriate choice of antibiotics against enterococci. The treatment recommendations for enterococcal endocarditis were given by American Heart Association recently. Case report. A case of enterococcal endocarditis in a young female person hospitalised at Clinic for infectious diseases was reviewed. The disease was diagnosed during an extensive diagnostic procedure. Multiply repeated echocardiographic examination helped to find out bacterial vegetations on the mitral valve. Enterococcus species was isolated from several blood cultures. Despite powerful antibiotic treatment, the additional valvular replacement had to be done. Discussion. A case of enerococcal endocarditis in a young female person was reviewed. The right diagnosis was based on a thorough clinical examination in cooperation with cardiologists using repeated transthoracic and transesophageal echocardiography. Echocardiography, even if it is transesophageal, has limited sensitivity and specify, so it is sometimes necessary to be repeated for several times in diagnosing endocarditis. The source of endocarditis was not identified. The combined antimicrobial and surgical treatment led to the complete recovery of patient. Conclusion. Enterococcal endocarditis rarely occurrs in young females. Infective disease specialists sometimes face enterococcal endocarditis in their practice, mostly when they have to cope with fever of unknown origin. An appropriate approach to such conditions includes careful search for heart valve changes by repeated echocardiographic finding, if necessary.

scholarly journals Interventional Treatment of Lymphatic Leakage Post Appendectomy: Case Report

2019 ◽  
Vol 7 (9) ◽  
pp. 1512-1515
Author(s):  
Nguyen Ngoc Cuong ◽  
Nguyen Thai Binh ◽  
Phan Nhan Hien ◽  
Nguyen Hoang ◽  
Le Tuan Linh ◽  
...  
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Clinical Case ◽  
Iliac Fossa ◽  
Chylous Ascites ◽  
Percutaneous Intervention ◽  
Interventional Treatment ◽  
Lymphatic Complications ◽  
The Right ◽  
Intranodal Lymphangiography

BACKGROUND: Postoperative lymphatic complications are not common, and lymphatic leakage complication post appendectomy (LLCPC) is even rarer. However, the number of this operation is high so LLCPC can occur. CASE REPORT: Here, we report a female patient post appendectomy with severe chylous ascites. This patient underwent six operations. A leakage point at the right iliac-fossa, which was embolized successfully after two sessions, was spotted during intranodal lymphangiography. After 6 months, the ascites were significantly reduced while some lymphatic aneurysms still existed in the lumbar-retroperitoneal region. CONCLUSIONS: Basing the knowledge of this clinical case and literature, we have concluded that lymphatic leakage can be diagnosed and embolized by percutaneous intervention.

scholarly journals Synchronous multiple primary tumors (neuroblastoma and parathyroid adenoma) in a child: case report and literature review

2021 ◽  
Vol 8 (1) ◽  
pp. 93-98
Author(s):  
S. V. Ivanova ◽  
S. A. Kuleva ◽  
E. A. Mikhailova ◽  
E. M. Senchurov ◽  
R. I. Khabarova ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Parathyroid Adenoma ◽  
Clinical Case ◽  
Genetic Mutations ◽  
Primary Tumors ◽  
Multiple Primary Tumors ◽  
Multiple Primary ◽  
The Right ◽  
The Relationship

The article presents a clinical case of simultaneous multiple primary tumors (the left adrenal neuroblastoma and the right lower parathyroid adenoma) in the child 11 years old.The literature describes several cases of primarily multiple tumors, one of which was neurogenic, requiring an individual approach to treatment. The relationship between the occurrence of polyneoplasia and genetic mutations is discussed. 

scholarly journals The Error of Differential Diagnosis of Pancreatic Cystic Lesion Using CEUS (Case Report)

2017 ◽  
pp. 29-35
Author(s):  
N. N. Askerova ◽  
A. N. Askerova ◽  
Yu. A. Stepanova ◽  
N. N. Vetsheva ◽  
A. V. Glotov
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Contrast Agent ◽  
Morphological Study ◽  
Cystic Lesion ◽  
Clinical Case ◽  
Cystic Tumor ◽  
Epithelial Lining ◽  
Retention Cyst ◽  
Co Morbidity

The use of the contrast agent SonoVue has been allowed in Russia since June 2014. Since then, russian experts have been accumulating their own experience in the contrast agent application for various diseases. The analysis of the obtained data showed that, besides the typical characteristics of the lesions enhancement, described in the literature, there can be atypical cases due to various causes (longterm course of the disease, co-morbidity). We present a clinical case of pancreas cystic lesion in female patient, that was misunderstood as a cystic tumor preoperatively. Considering the epithelial lining nature, absence of the accurate signs of the presence of an ovarian-like stroma, and also the significant secondary changes in the cystic wall such as hyalinosis, cholesterol deposits and macrophage accumulations, the lesion was interpreted as a long-standing pancreatic retention cyst with secondary changes by a morphological study. The features of the enhancement patterns of this lesion can be explained by the presence of significant secondary changes in the wall of cyst, that was first diagnosed in this patient 10 years ago.

scholarly journals MESENCHYMAL TUMORS OF THE COLON AND RECTUM: DIAGNOSIS, TREATMENT, PROGNOSIS (case report and review)

2020 ◽  
Vol 19 (3) ◽  
pp. 97-112
Author(s):  
O. A. Mainovskaya ◽  
M. A. Tarasov ◽  
E. M. Romanova ◽  
S. V. Chernyshov
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Mesenchymal Tumor ◽  
Mesenchymal Tumors ◽  
Different Types ◽  
Colon And Rectum ◽  
Treatment Prognosis ◽  
Derivatives Of

Mesenchymal tumors of the colon and rectum are extremely rare and do not have specific clinical manifestations, their diagnosis and staging cause certain difficulties.Different types of mesenchymal tumors differ in prognosis and choice of the treatment. It explains the importance of differential diagnosis of these neoplasms among themselves and tumors-derivatives of other embryonic structures.The article describes the clinical case of a rare mesenchymal tumor and management of the patient.

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