Paroxysmal kinesigenic dyskinesia: a diagnostic challenge

2021 ◽  
Vol 14 (2) ◽  
pp. e235112
Author(s):  
Kavinda Dayasiri ◽  
Nilushika Weerapperuma ◽  
Juliana Wright ◽  
Geetha Anand
Keyword(s):  
Voluntary Movement ◽  
Delayed Diagnosis ◽  
Typical Feature ◽  
Diagnostic Challenge ◽  
Abnormal Involuntary Movements ◽  
Paroxysmal Kinesigenic Dyskinesia ◽  
Dystonic Posturing ◽  
History Of ◽  
Hospital Visits ◽  
Treatable Condition

A 10-year-old girl presented with a month long history of episodic limb movements. She had a normal neurological examination and after thorough investigation, she was thought to have possible tics. Anxiety was reported as being a trigger. Unusually, these ‘tics’ were not directly witnessed during hospital visits. Eighteen months after the initial presentation, the clinician observed dystonic posturing after the child stood up from having been seated during a consultation. Paroxysmal kinesigenic dyskinesia (PKD) was then suspected and confirmed on genetic testing. She was successfully treated with carbamazepine. In hindsight, it became apparent that her anxiety was related to a fear of uncontrolled movements, rather than it being a trigger. The abnormal involuntary movements in PKD are precipitated by sudden voluntary movement. Lack of recognition of this typical feature, normal examination and/or features such as coexisting anxiety can lead to misdiagnosis or delayed diagnosis of this easily treatable condition.

Refractory Ascites as the Only Presenting Symptom of Chronic Calcified Constrictive Pericarditis: A Diagnostic Challenge

2014 ◽  
Vol 17 (1) ◽  
pp. 42
Author(s):  
Shi-Min Yuan
Keyword(s):  
Computed Tomography ◽  
Liver Cirrhosis ◽  
Female Patient ◽  
Constrictive Pericarditis ◽  
Delayed Diagnosis ◽  
Young Female ◽  
Refractory Ascites ◽  
Diagnostic Challenge ◽  
Massive Ascites ◽  
History Of

Extracardiac manifestations of constrictive pericarditis, such as massive ascites and liver cirrhosis, often cover the true situation and lead to a delayed diagnosis. A young female patient was referred to this hospital due to a 4-year history of refractory ascites as the only presenting symptom. A diagnosis of chronic calcified constrictive pericarditis was eventually established based on echocardiography, ultrasonography, and computed tomography. Cardiac catheterization was not performed. Pericardiectomy led to relief of her ascites. Refractory ascites warrants thorough investigation for constrictive pericarditis.

scholarly journals Tuberculosis of lunate as an isolated intraosseous osteolytic lesion in an adult: a diagnostic challenge

2019 ◽  
Vol 12 (7) ◽  
pp. e229597
Author(s):  
Prasoon Kumar ◽  
Sameer Aggarwal ◽  
Rajesh Kumar Rajnish ◽  
Saurabh Agarwal
Keyword(s):  
Osteolytic Lesion ◽  
Delayed Diagnosis ◽  
Joint Mobility ◽  
Diagnostic Challenge ◽  
Common Presentation ◽  
Antitubercular Treatment ◽  
Osseous Involvement ◽  
History Of ◽  
Hand Involvement ◽  
Loss Of Appetite

In an endemic zone of tuberculosis (TB), osseous involvement is a relatively common presentation. Spine and long bones are the the most common nidus of TB. Smaller bones and joints are relatively less involved. Thorough clinical examination and history of typical constitutional symptoms like weight loss, fever and loss of appetite are the diagnostic aids for initiating early treatment. Wrist and hand involvement is a rare occurrence and often presents atypically without any obvious symptoms or signs. This results in delayed diagnosis and worse outcome. TB of lunate without articular involvement is a very rare subset and we present such an isolated case of TB involving the lunate, without any typical symptoms, with the patient complaining of vague pain without any restriction of joint mobility. TB was diagnosed with the aid of radiology, haematology and histopathology. 18 months of multidrug antitubercular treatment was given, to which the patient responded well.

A Rare Case of Bilateral Incarcerated Obturator Hernias and a Right-Side Femoral Hernia

2020 ◽  
pp. 1-3
Author(s):  
Jinping Xu ◽  
Jinping Xu ◽  
Ruth Wei ◽  
Salieha Zaheer
Keyword(s):  
Emergency Department ◽  
Abdominal Pain ◽  
Femoral Hernia ◽  
Rare Case ◽  
Hernia Recurrence ◽  
High Morbidity ◽  
Diagnostic Challenge ◽  
Abdominal Ct ◽  
Abdominal Ct Scan ◽  
History Of

Obturator hernias are rare but pose a diagnostic challenge with relatively high morbidity and mortality. Our patient is an elderly, thin female with an initial evaluation concerning for gastroenteritis, and further evaluation revealed bilateral incarcerated obturator hernias, which confirmed postoperatively as well as a right femoral hernia. An 83-year-old female presented to the outpatient office initially with one-day history of diarrhea and one-week history of episodic colicky abdominal pain. She returned 4 weeks later with diarrhea resolved but worsening abdominal pain and left inner thigh pain while ambulating, without changes in appetite or nausea and vomiting. Abdominal CT scan then revealed bilateral obturator hernias. Patient then presented to the emergency department (ED) due to worsening pain, and subsequently underwent hernia repair. Intraoperatively, it was revealed that the patient had bilateral incarcerated obturator hernias and a right femoral hernia. All three hernias were repaired, and patient was discharged two days later. Patient remained well postoperatively, and 15-month CT of abdomen showed no hernia recurrence.

scholarly journals Emergency Department and Radiological Cost of Delayed Diagnosis of Cannabinoid Hyperemesis

2019 ◽  
Vol 2019 ◽  
pp. 1-4 ◽  
Author(s):  
David I. Zimmer ◽  
Ross McCauley ◽  
Varun Konanki ◽  
Joseph Dynako ◽  
Nuha Zackariya ◽  
...  
Keyword(s):  
Emergency Department ◽  
Delayed Diagnosis ◽  
The United States ◽  
Clinical Syndrome ◽  
Cannabis Use ◽  
Diagnostic Challenge ◽  
High Clinical Suspicion ◽  
Ed Visits ◽  
Inappropriate Utilization ◽  
Utilization Of Healthcare

Background. Chronic cannabis use has become prevalent with decriminalization, medical prescription, and recreational legalization in numerous US states. With this increasing incidence of chronic cannabis use a new clinical syndrome has become apparent in emergency departments and hospitals across the country, termed Cannabinoid Hyperemesis (CH). CH has been described as cyclical vomiting and abdominal pain in the setting of chronic cannabis use, which is often temporarily relieved by hot showers. CH presents a diagnostic challenge to clinicians who do not have a high clinical suspicion for the syndrome and can result in high costs and resource utilization for hospitals and patients. This study investigates the expenditures associated with delayed CH evaluation and delayed diagnosis. Methods. This is a retrospective observational study of 17 patients diagnosed with CH at three medical centers in the United States from 2010 to 2015, consisting of two academic centers and a community hospital. Emergency department (ED) costs were calculated and analyzed for patients eventually diagnosed with CH. Results. For the 17 patients treated, the total cost for combined ED visits and radiologic evaluations was an average of $76,920.92 per patient. On average these patients had 17.9 ED visits before the diagnosis of CH was made. Conclusion. CH provides a diagnostic challenge to clinicians without a high suspicion of the syndrome and may become increasingly prevalent with current trends toward cannabis legalization. The diagnosis of CH can be made primarily through a thorough history and physical examination. Awareness of this syndrome can save institutions money, prevent inappropriate utilization of healthcare resources, and save patients from unnecessary diagnostic tests.

scholarly journals Subacute Sclerosing Panencephalitis manifesting as Bell’s palsy and bilateral macular necrotizing retinitis: an atypical presenting feature

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Lagan Paul ◽  
Tanya Jain ◽  
Manisha Agarwal ◽  
Shalini Singh
Keyword(s):  
Subacute Sclerosing Panencephalitis ◽  
Clinical History ◽  
Neurological Complications ◽  
Bell’S Palsy ◽  
Ocular Involvement ◽  
Bell's Palsy ◽  
Diagnostic Challenge ◽  
Bladder Control ◽  
Mri Brain ◽  
History Of

Abstract Background Subacute sclerosing panencephalitis (SSPE) is a potentially lethal complication of measles infection. Neurological complications take years to manifest after primary viral infection of brain and can lead to blindness in some individuals. Findings A 13-year-old female patient with history of Bell’s palsy 2 months prior, presented with rapidly progressing necrotizing retinitis in both eyes. Soon after, she was unable to walk, developed myoclonic jerks, altered sensorium and loss of bowel and bladder control. Her clinical history, CSF IgG measles antibody analysis, MRI brain and EEG findings confirmed the diagnosis of SSPE. Conclusion SSPE in our case presented as Bell’s palsy and sudden painless diminution of vision due to ocular involvement, and developed full blown disease within 2 months. SSPE can present as a diagnostic challenge and warrants early identification and referral for timely diagnosis and management.

scholarly journals Pancreaticopleural Fistula: A Cause of Recurrent Pleural Effusions in Chronic Pancreatitis

2021 ◽  
Author(s):  
Ayah Megahed ◽  
Rahul Hegde ◽  
Pranav Sharma ◽  
Rahmat Ali ◽  
Anas Bamashmos
Keyword(s):  
Chronic Pancreatitis ◽  
Pancreatic Duct ◽  
Pleural Fluid ◽  
Rare Complication ◽  
Delayed Diagnosis ◽  
Magnetic Resonance Cholangiopancreatography ◽  
Pleural Effusions ◽  
Diagnostic Challenge ◽  
Abdominal Symptoms ◽  
Pancreatic Duct Stenting

AbstractPancreaticopleural fistula is a rare complication of chronic pancreatitis caused by disruption of the pancreatic duct and fistulous communication with the pleural cavity. It usually presents with respiratory symptoms from recurrent large volume pleural effusions. Paucity of abdominal symptoms makes it a diagnostic challenge, leading often to delayed diagnosis. Marked elevation of pleural fluid amylase, which is not a commonly performed test, is a sensitive marker in its detection. Imaging with magnetic resonance cholangiopancreatography and endoscopic retrograde cholangiopancreatography can help delineate the fistula. In this report, we present the clinical features, imaging, and management of a 59-year-old male patient with pancreaticopleural fistula, wherein the diagnosis was suspected only after repeated pleural fluid drainages were performed for re-accumulating pleural effusions and it was eventually successfully treated with pancreatic duct stenting. We review the literature with regards to the incidence, presentation, diagnosis, and management of this rare entity.

scholarly journals Posterior Fossa Arachnoid Cyst Masking a Delayed Diagnosis of Hyperparathyroidism in a Child

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
B. Dhamija ◽  
D. Kombogiorgas ◽  
I. Hussain ◽  
G. A. Solanki
Keyword(s):  
Differential Diagnosis ◽  
Primary Hyperparathyroidism ◽  
Posterior Fossa ◽  
Arachnoid Cyst ◽  
Hospital Admissions ◽  
Delayed Diagnosis ◽  
Visual Disturbance ◽  
Organ Damage ◽  
Presenting Symptoms ◽  
History Of

Background. Primary hyperparathyroidism in childhood is a very rare entity, often being diagnosed late after the onset of its presenting symptoms. It most commonly affects patients in their fourth decade of life and beyond. The inclusion of primary hyperparathyroidism in the differential diagnosis is necessary when evaluating patients presenting with nonspecific symptoms such as polyuria, fatigue, weight loss, abdominal pain, nausea, and vomiting.Methods. We report the case of an eleven-year-old girl presenting with three years history of headaches, visual disturbance, along with episodes of emotional lability. Neuroimaging confirmed a large posterior fossa arachnoid cyst. It was decided to manage this lesion conservatively with surveillance. Only after further hospital admissions with recurrent loss of consciousness, dizziness, and nausea to add to her already existing symptoms, a full biochemical and endocrine assessment was performed to look for more specific causes for her presentation. These pointed to a diagnosis of primary hyperparathyroidism.Conclusions. The inclusion of primary hyperparathyroidism in the differential diagnosis should be considered when evaluating paediatric patients presenting with nonspecific (neurological, gastrointestinal, and renal) symptoms in order to establish a prompt diagnosis of the disorder and to avoid severe complications of prolonged hypercalcaemia and end-organ damage.

Tuberculosis in Children in a Pediatric Hospital in Mexico

2021 ◽  
Author(s):  
Napoleón González Saldaña ◽  
Mercedes Macías Parra ◽  
Hugo Juárez Olguín ◽  
José Iván Castillo Bejarano ◽  
Monica Punzo Soto ◽  
...  
Keyword(s):  
Pediatric Hospital ◽  
Diagnostic Challenge ◽  
Abnormal Chest ◽  
Culture Sensitivity ◽  
History Of ◽  
Chest X Ray ◽  
Epidemiological Evaluation ◽  
Polymerase Chain ◽  
Tuberculosis In Children ◽  
Skin Test Result

Tuberculosis (TB) remains a global problem and a diagnostic challenge, especially in pediatrics. The aim of this study was to describe the clinical, microbiological, radiological, and histopathological data of TB in children. A 7-year retrospective and descriptive cohort study that included 127 patients under 18 years of age with diagnosis of active TB was conducted from 2011 to 2018 in a pediatric hospital. Tuberculosis was microbiologically confirmed using Ziehl–Neelsen (ZN) staining, culture or polymerase chain reaction (PCR) in a total of 94 (74%) cases. Thirty-three cases were defined as probable TB based on tuberculin skin test result and epidemiological evaluation. The TB forms found were lymph node (39.3%), bone (15.7%), lung (13.6%), and meningeal TB (8.6%). The most common symptoms were fever (48.8%) and adenopathy (45.6%). History of contact was established in 34.6%. Positive ZN staining (sensitivity 30%) and culture (sensitivity 37%) were found in 29% and 37.7% of subjects, respectively. About 64.5% depicted abnormal chest X-ray. Xpert MTB/RIF® (PCR) was positive in 9.4% and biopsy was compatible in 52.7% of these samples. It is fundamental to have laboratory and epidemiological evaluation that support the diagnosis of the disease in children and thus, define its management; since, in most cases, early microbiologic confirmation is lacking.

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