scholarly journals Macular cherry red spot is an important diagnostic marker in children with myoclonic epilepsies

2016 ◽  
Vol 03 (02) ◽  
pp. 095-097
Author(s):  
Minal Kekatpure ◽  
K. Vinayan ◽  
Sheela Nampoothiri ◽  
Gopal Pillai ◽  
Anand Kumar
Keyword(s):  
Case Series ◽  
Clinical History ◽  
Accurate Diagnosis ◽  
Rare Disorders ◽  
Developmental Regression ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy ◽  
Cherry Red Spot ◽  
History Of ◽  
Eye Examination

AbstractSymptomatic myoclonus is the major presenting feature of a small but very important and genetically diverse group of rare disorders included under the umbrella of progressive myoclonus epilepsy (PME) and progressive myoclonus ataxia (PMA) syndromes. These disorders often require extensive investigations to arrive at an accurate diagnosis. We present a case series highlighting the importance of a detailed fundoscopic eye examination; particularly when occurring in conjunction with a clinical history of myoclonus, developmental regression and other systemic features in clinching an etiologic diagnosis of storage disorder, specifically, gangliosidosis and sialidosis in children with suspected progressive myoclonus epilepsies. The causes of macular cherry red spot (CRS) on fundoscopic examination are limited and in a given child may provide an important clue for narrowing the differential diagnoses and finally making an accurate diagnosis. Current literature on symptomatic myoclonus, cherry red spot and their occurrence in PME/PMA syndromes is also reviewed.

scholarly journals Tumor Mimicking in Musculoskeletal System in Surabaya: A Case Series

2020 ◽  
Vol 4 (1) ◽  
pp. 111
Author(s):  
Bayu Antara Hadi ◽  
Mouli Edward
Keyword(s):  
Chronic Osteomyelitis ◽  
Case Series ◽  
Clinical History ◽  
Left Knee ◽  
Diagnostic Modality ◽  
Left Femur ◽  
Papillary Carcinoma Thyroid ◽  
Mass Size ◽  
History Of ◽  
One Year

ABSTRACTMusculoskeletal tumors are potential causes of heavy morbidity and economic burdens for patients. There are often cases suspected as musculoskeletal tumors based on a specific diagnostic modality because of overlapping features upon physical examination or a tumor-like appearance from the radiological examination, the more reason for triple diagnosis to be performed for an exact diagnosis.  We report 5 cases of fractures tumor-mimicking lesions. The First patient, a patient with MRI revealing a primary malignant bone tumor, but with plain thorax x-ray and FNAB, the diagnosis was tuberculosis arthritis of the elbow. The second patient shows metastatic proses with plain radiographic, but from open biopsy, the diagnoses fall to chronic osteomyelitis. The third patient had a history of papillary carcinoma thyroid with pathological fracture of proximal of the left femur, but the biopsy shows a hypercalcemic state. The fourth patient, had mass size 20x15 cm at the thigh, but the biopsy shows Non-Specific Chronic Osteomyelitis. The fifth patient with progressive swelling of the left knee for one year, 10x10 cm in size, the biopsy showed no sign of malignancy but tuberculosis of left distal femur. In conclusion, standard comprehensive diagnosis steps consisting of clinical history, imaging, laboratory and histopathological examinations are crucial to differentiate tumor-mimicking lesions from neoplasms, thus ensuring proper treatment.Keywords: Tumour mimicking, osteosarcoma, chondroma, malignancy

scholarly journals Is adjunctive perampanel beneficial for lafora disease?

2020 ◽  
Vol 77 (5) ◽  
pp. 539-544
Author(s):  
Galina Stevanovic ◽  
Nebojsa Jovic ◽  
Miljana Kecmanovic
Keyword(s):  
Case Studies ◽  
Functional Disability ◽  
Single Case ◽  
Case Series ◽  
Lafora Disease ◽  
Open Label ◽  
Progressive Myoclonus Epilepsy ◽  
Case Series Study ◽  
Myoclonus Epilepsy ◽  
Psychiatric Side Effects

Backgrund/Aim. Lafora disease (LD) is progressive myoclonus epilepsy, characterized by intractable myoclonus and seizures, inevitable neurological deterioration, brutal cognitive decline and poor prognosis. The treatment still remains purely symptomatic. Recently, two single-case studies and one case series study reported the favourable effects of perampanel in LD. Our study aimed to test the benefits reported in three separate case studies. Methods. We performed an open label, prospective study of 4 patients aged between 22 and 34 years with mutation in NHLRC1 (EPM2B) gene, treated with perampanel (6?8 mg/day) as add-on therapy. Follow-up period comprised 14?26 months. Seizure frequency, myoclonus, functional disability and cognitive performance were analysed. Results. In 3 patients, both, seizures and myoclonus, showed remarkable improvement after the drug introduction (> 50% reduction). No significant effect was seen in one case. The functional and cognitive impairment maintained at the same level, though all patients were at the later stage of the disease. Psychiatric side effects were dose related. Conclusion. Our study supports the rare, previously reported observations that perampanel is beneficial in treating LD patients.

Identifying Type III Sulcus: Patient Characteristics and Endoscopic Findings

2020 ◽  
Vol 163 (6) ◽  
pp. 1240-1243
Author(s):  
Eleni A. Varelas ◽  
Paul M. Paddle ◽  
Ramon A. Franco ◽  
Inna A. Husain
Keyword(s):  
Benign Lesion ◽  
Case Series ◽  
Vocal Folds ◽  
Clinical History ◽  
Patient Characteristics ◽  
Endoscopic Examination ◽  
Type Iii ◽  
Presenting Symptoms ◽  
History Of ◽  
Structural Deformity

Objective Type III sulcus is a pathologic structural deformity of the vocal folds that is challenging to accurately diagnose without endoscopic examination under anesthesia. This study aims to further define the clinical presentation and examination features shared among a patient cohort intraoperatively diagnosed with type III sulcus. Study Design Case series with chart review. Setting Tertiary laryngology practice. Subjects and Methods All patients diagnosed intraoperatively with type III sulcus from 2002 to 2014 at a tertiary laryngology practice were included. Clinical history of presenting symptoms, videostroboscopy, and intraoperative and histologic findings were reviewed. Results Twenty-two patients were included in the study. A majority were female (77%) and had a mean age of 32.4 years. All patients endorsed hoarseness, and 86% were defined as professional voice users. Endoscopic examination revealed bilateral type III sulcus in 23% of patients. The most common preoperative stroboscopic findings included decreased mucosal wave (100%), dilated vessel (95%), phase asymmetry (91%), additional benign lesion (91%), and cyst (82%). Histology revealed epithelial changes of atypia and keratosis. Conclusion Both the severity of dysphonia and the difficulty observing structural malformations of the vocal folds make type III sulcus challenging to preoperatively diagnose. This study reports the clinical and endoscopic features seen within a cohort of patients with type III sulcus.

Unilateral Congenital Choanal Atresia in a 48-Year-Old Patient

2017 ◽  
Vol 9 (1) ◽  
pp. 28-31
Author(s):  
Lília Ferraria ◽  
Sílvia Alves ◽  
Helena Rosa ◽  
Mário Santos ◽  
Luis Antunes
Keyword(s):  
Surgical Repair ◽  
Choanal Atresia ◽  
Diagnostic Procedures ◽  
Clinical History ◽  
Accurate Diagnosis ◽  
Live Births ◽  
Major Symptom ◽  
Detailed Clinical History ◽  
Congenital Condition ◽  
History Of

ABSTRACT Aim To report a case of unilateral choanal atresia diagnosed in a 48-year-old, presenting with fatigue as the major symptom. To highlight the importance of a detailed clinical history and physical examination for an accurate diagnosis. Background Choanal atresia is an uncommon and often poorly recognized cause of unilateral or bilateral nasal obstruction. It is a congenital condition that occurs in approximately 1 in 5,000 to 8,000 live births. Case report This study reports a case of unilateral choanal atresia diagnosed in a 48-year-old presenting with fatigue as the major symptom. The patient presented with a lifelong history of tiredness investigated in cardiology. She was treated by a combined transseptal and transnasal endoscopic surgical technique. Topic use of mitomycin was performed with no use of stents, with clinical regression of the symptoms. Conclusion Unilateral choanal atresia usually presents in younger patients but can be undiagnosed until adulthood due to the nonspecific nature of the symptoms. This diagnosis should be, therefore, considered in all ages and bedside diagnostic procedures should, then, be done. Nasal endoscopy and computed tomography (CT) scan are the gold standard for the diagnosis. The use of stents and mitomycin C topically as an adjunct to the surgical repair of choanal atresia is a controversial subject. How to cite this article Ferraria L, Alves S, Rosa H, Santos M, Antunes L. Unilateral Congenital Choanal Atresia in a 48-Year-Old Patient. Int J Otorhinolaryngol Clin 2017;9(1):28-31.

scholarly journals (Doctor…My child keeps falling over) unexpected MRI findings in children with history of frequent falls and dizziness: a case series

2019 ◽  
Vol 12 (7) ◽  
pp. e229849 ◽  
Author(s):  
Ashraf Nabeel Mahmood ◽  
Osama Abulaban ◽  
Arshad Janjua
Keyword(s):  
Physical Examination ◽  
Case Series ◽  
Clinical History ◽  
Brain Stem Glioma ◽  
Mri Findings ◽  
Group Management ◽  
Wide Range ◽  
Detailed Clinical History ◽  
History Of ◽  
Low Threshold

Frequent falls and dizziness are common complaints in children. These symptoms can be caused by wide range of underlying pathologies including peripheral vestibular deficits, cardiac disease, central lesions, motor skills delay and psychogenic disorders. We report three paediatric cases who presented with complaints of repeated falls and imbalance. MRI scan revealed underlying brain lesions (frontal lobe arteriovenous malformation, exophytic brain stem glioma and cerebellomedullary angle arachnoid cyst with cerebellar tonsillar ectopia). By reporting these cases, we would like to emphasise the importance of a thorough assessment of children with similar symptoms by detailed clinical history, physical examination and maintaining low threshold for investigations, including radiological imaging. Taking in consideration, the wide range of differential diagnosis, the challenge of obtaining detailed history and difficulty of performing reliable physical examination in this age group. Management of underlying disorders can be medical, surgical or just observational.

scholarly journals OVARIAN TUMORS

2018 ◽  
Vol 25 (09) ◽  
pp. 1334-1337
Author(s):  
Jawad Ali Memon ◽  
Zubair Ali
Keyword(s):  
Ct Scan ◽  
Case Series ◽  
Clinical History ◽  
Ovarian Tumors ◽  
Ca 125 ◽  
Wall Thickening ◽  
Case Series Study ◽  
Ca 19.9 ◽  
History Of ◽  
Marker Study

Background: It is mandatory to distinguish between primary ovarian tumorsand metastases, as the treatment and prognoses are wide apart. Immunohistochemistry ismost frequently method being used to distinct these. Multiple studies showed that CDX2 ishallmark of the gut epithelium and is highly sensitive and specific immunohistochemical markerfor neoplasms of gastrointestinal origin. Objectives: In this case series study we have clinicallyand radiologically evaluated the cases of ovarian tumors referred to our institute, which arereported metastatic from colon based on expression of CDX2 marker. Study Design: Crosssectional observational study. Setting: Peoples University of Medical and Health Sciences forWomen (PUMHSW). Shaheed Benazir Abad. Period: Aug 2017 to September 2017. Patientsand Methods: 12 patients which were undergone oophrectomy and biopsy reported asmetastatic ovarian carcinoma from colon origin, based on histopathology features and CDX+immunohistochemistry marker, were included in our study. All the patients evaluated throughdetailed clinical history and examination, upper and lower GI endoscopy, CT scan wholeabdomen with contrast and tumor markers including CA 125, CEA, CA 19.9 and AFP). Results:No history of GIT specific symptoms like vomiting, constipation, diarrhea, bleeding per rectumwere noted in any patient. Upper and lower GIT endoscopies failed to identify any suspiciouslesion. No bowel related mass or wall thickening noted in CT scan abdomen with contrast.The serum level of CA 125 and CEA were only mildly raised in most patients. No evidence ofprimary colon lesion was noted in these patients inspite of extensive workup. Eventually thepatients were labeled and treated as primary carcinoma of ovary. Conclusions: CDX2 cannotbe used as sole indicator of colon origin and panel of the markers should always be employed,and clinical as well as radiological features should also be considered during interpretation ofIHC results.

A clinical history of Zincum metallicum: homeopathic pathogenetic trials and case reports

Homeopathy ◽  
2017 ◽  
Vol 106 (02) ◽  
pp. 114-130 ◽  
Author(s):  
Silvia Waisse ◽  
Gheorghe Jurj
Keyword(s):  
Case Reports ◽  
Case Series ◽  
Clinical History ◽  
Literature Survey ◽  
Body Of Knowledge ◽  
Clinical Observations ◽  
History Of ◽  
Homeopathic Drug ◽  
The 19Th Century ◽  
Over Time

In the present study, we investigated the experimental basis for the indications of homeopathic drug Zincum metallicum. The current body of knowledge about Zinc met has a core composed of pathogenetic and clinical data collected in the 19th century surrounded by layers of clinical observations reported over time. In the description, we prioritized poorly known sources, especially the ones that were never translated from the original German. We also performed quantitative and statistical analysis of repertory data. Through a literature survey and a call to practicing homeopathic doctors from many countries, we were able to put together a relevant case-series that represents homeopathic indications of Zinc.

scholarly journals Genotypes and phenotypes of patients with Lafora disease living in Germany

2019 ◽  
Vol 1 (1) ◽  
Author(s):  
David Brenner ◽  
Tobias Baumgartner ◽  
Sarah von Spiczak ◽  
Jan Lewerenz ◽  
Roger Weis ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Disease Onset ◽  
Case Series ◽  
Genetic Diagnostics ◽  
Lafora Disease ◽  
Retrospective Case ◽  
Progressive Myoclonus Epilepsy ◽  
Whole Exome ◽  
Causal Therapy ◽  
Myoclonus Epilepsy

Abstract Background Lafora progressive myoclonus epilepsy (Lafora disease) is a rare, usually childhood-onset, fatal neurodegenerative disease caused by biallelic mutations in EPM2A (Laforin) or EPM2B (NHLRC1; Malin). The epidemiology of Lafora disease in Germany is largely unknown. The objective of this retrospective case series is to characterize the genotypes and phenotypes of patients with Lafora disease living in Germany. Methods The patients described in this case series initially had the suspected clinical diagnosis of Lafora disease, or unclassified progressive myoclonus epilepsy. Molecular genetic diagnostics including next generation sequencing-based diagnostic panel analysis or whole exome sequencing was performed. Results The parents of four out of the 11 patients are nonconsanguineous and of German origin while the other patients had consanguineous parents. Various variants were found in EPM2A (six patients) and in EPM2B (five patients). Eight variants have not been reported in the literature so far. The patients bearing novel variants had typical disease onset during adolescence and show classical disease courses. Conclusions This is the first larger case series of Lafora patients in Germany. Our data enable an approximation of the prevalence of manifest Lafora disease in Germany to 1,69 per 10 million people. Broader application of gene panel or whole-exome diagnostics helps clarifying unclassified progressive myoclonus epilepsy and establish an early diagnosis, which will be even more important as causal therapy approaches have been developed and are soon to be tested in a phase I study.

scholarly journals Red herring unmasked: the trail leading to retinoblastoma

2021 ◽  
Vol 3 (2) ◽  
pp. 101-106
Author(s):  
Variant Nee Vern Chee ◽  
Li Yen Chan ◽  
Zayani Binti Zohari ◽  
Fazliana Binti Ismail ◽  
Jamalia Binti Rahmat
Keyword(s):  
Anterior Chamber ◽  
Blunt Trauma ◽  
Poor Prognosis ◽  
Foreign Bodies ◽  
Histopathological Examination ◽  
Case Series ◽  
Accurate Diagnosis ◽  
Vitreous Haemorrhage ◽  
History Of ◽  
High Index Of Suspicion

This case series highlights the possibility of retinoblastoma in children with a history of trauma. Retinoblastoma commonly presents with leukocoria. In our series, the history of blunt trauma led to a misdiagnosis. The delay in correctly diagnosing retinoblastoma was made more difficult with hyphaema and vitreous haemorrhage obscuring the fundus view. Hyperdensities in imaging tests were mistaken for intraocular foreign bodies and post-trauma insult rather than calcification of an intraocular tumour. Both patients underwent anterior chamber washout. The patients were referred to our centre when their condition worsened. Retinoblastoma was highly suspected and confirmed from histopathological examination after enucleation. An accurate diagnosis can only be achieved by exercising a high index of suspicion. Misdiagnosis and mismanagement will lead to poor prognosis.

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