scholarly journals Hyperekplexia in a neonate: a seizure mimicker

2017 ◽  
Vol 6 (1) ◽  
pp. 375
Author(s):  
Sunil Kumar Agarwalla ◽  
Debasis Patro ◽  
Nasreen Ali ◽  
Ankita Pattanaik
Keyword(s):  
Clinical Diagnosis ◽  
Genetic Predisposition ◽  
Startle Reflex ◽  
Seizure Disorder ◽  
Disease Entity ◽  
Startle Disease ◽  
Tonic Spasm ◽  
External Stimuli

Hyperekplexia is an exaggerated startle to external stimuli associated with generalized increase in tone seen in a normal newborn with both sporadic as well as genetic predisposition. This is an uncommon neurological entity that is often confused with seizure in infancy. To date about 150 cases have been reported in the literature. We report a 6-week-old infant with characteristic intermittent generalized tonic spasm misdiagnosed as seizure disorder and was on phenobarbitone. With characteristic stiffening episode and exaggerated startle without habituation on tapping the nose we came to a clinical diagnosis of Hyperekplexia or Stiff baby syndrome or Startle disease. The child was started on Clonazepam to which he responded remarkably with decreased startle reflex. The aim of this case reporting is to through insight to this disease entity when we see an intermittent hypertonic infant.

Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB gene

2020 ◽  
Vol 13 (12) ◽  
pp. e236152
Author(s):  
Naveen Parkash Gupta ◽  
Vinita Verma ◽  
Saurabh Chopra ◽  
Vivek Choudhury
Keyword(s):  
Genetic Testing ◽  
Missense Mutation ◽  
Genetic Predisposition ◽  
Seizure Disorder ◽  
Β Subunit ◽  
Tonic Spasm ◽  
Initial Improvement ◽  
External Stimuli ◽  
Neurodevelopment Outcome

Hyperekplexia is an exaggerated startle to external stimuli associated with a generalised increase in tone seen in neonates with both sporadic and genetic predisposition. This is an uncommon neurological entity that is misdiagnosed as seizure. A 28-days-old infant was admitted to us with characteristic intermittent generalised tonic spasm being treated as a seizure disorder. The infant had characteristic stiffening episode, exaggerated startle and non-habituation on tapping the nose. Hyperekplexia was suspected and confirmed by genetic testing (mutation in the β subunit of glycine was found). Initial improvement was seen with the use of clonazepam, which was not sustained. At the age of 4.5 years, the child is still having neurobehavioural issues like hyperactivity and sensory hyper-responsiveness. Usually, hyperekplexia is benign in nature. We report a case of hyperekplexia with non-sense mutation in the β subunit of GlyR gene having abnormal neurodevelopmental findings at 4.5 years.

scholarly journals Proliferative Verrucous Leukoplakia Revisited: A Retrospective Clinicopathological Study

2021 ◽  
Vol 11 (2) ◽  
pp. 337-346
Author(s):  
Snehashish Ghosh ◽  
Roopa S. Rao ◽  
Manoj K. Upadhyay ◽  
Karuna Kumari ◽  
D. Sharathkumar Sanketh ◽  
...  
Keyword(s):  
Natural History ◽  
Clinical Diagnosis ◽  
Clinical Relevance ◽  
Final Diagnosis ◽  
Disease Entity ◽  
True Nature ◽  
Proliferative Verrucous Leukoplakia ◽  
Clinicopathological Study ◽  
History Of

(1) Objective: To review the criteria proposed by Cerero-Lapiedra et al. and to retrospectively identify the under-diagnosed disease in patients diagnosed with proliferative verrucous leukoplakia. (2) Materials and methods: In this study, we included patients who were diagnosed with leukoplakia (histological label consistent with the clinical diagnosis, n = 95), and cases with a final diagnosis within the spectrum of proliferative verrucous leukoplakia (n = 110) as defined by Batsakis et al. We applied the criteria proposed by Cerero-Lepiedra et al. to screen for the possible cases of proliferative verrucous leukoplakia. (3) Results: Although many of our patients satisfied specific isolated criteria, only 11 cases satisfied specific combinations of the guidelines to satisfy a diagnosis of proliferative verrucous leukoplakia. However, due to the lack of follow-up data, the disease is not confirmed in these 11 cases. (4) Conclusion: A limited number of cases of proliferative verrucous leukoplakia were diagnosed using the criteria given by Cerero-Lapiedra et al. The true natural history of the disease could not be studied due to the lack of follow-up data. (5) Clinical relevance: Proliferative verrucous leukoplakia presenting as hyperkeratosis or mild epithelial dysplasia are often not followed up, and they subsequently transform into carcinoma. Thus, clinicians must be vigilant whenever they encounter leukoplakia, especially with multifocal presentations. In such cases, the follow-up data are the key to understanding the true nature of the disease entity.

scholarly journals Anaesthetic Implications of Hyperekplexia—'Startle Disease’

2008 ◽  
Vol 36 (2) ◽  
pp. 254-256 ◽  
Author(s):  
R. Garg ◽  
R. Ramachandran ◽  
P. Sharma
Keyword(s):  
Reticular Formation ◽  
Startle Reflex ◽  
Uneventful Recovery ◽  
Pontine Reticular Formation ◽  
Chromosome 5 ◽  
Genetic Condition ◽  
Neuronal Hyperexcitability ◽  
Startle Disease ◽  
Life Threatening ◽  
And Control

This report describes anaesthesia for consanguineous siblings with the rare genetic condition hyperekplexia. This condition is also known as ‘stiff baby syndrome’ or ‘startle disease’. Hyperekplexia can present in major and minor forms and is caused by a mutation in chromosome 5 which results in a defect in the α-1 subunit of the inhibitory glycine receptors in the caudal pontine reticular formation leading to neuronal hyperexcitability. The patients present with a potentially life-threatening exaggerated startle reflex. Life-threatening spasms may be terminated by forced flexion of the head and legs towards the trunk. Anaesthesia management should avoid stimuli which trigger the reflex. Clonazepam and diazepam are used to prevent and control the spasms. Propofol and other agents with the ability to potentiate both GABAergic and glycinergic transmission may be appropriate choices for anaesthesia. Reaction to neuromuscular blockers may be unpredictable. Both our patients had relatively prolonged but otherwise uneventful recovery.

Study on erythrocytes by SEM photogrammetry (SEMP) technique

1990 ◽  
Vol 48 (3) ◽  
pp. 724-725
Author(s):  
Tong Wensheng ◽  
Lu Lianhuang ◽  
Zhang Zhijun
Keyword(s):  
Quantitative Analysis ◽  
Cell Membrane ◽  
Clinical Diagnosis ◽  
Human Body ◽  
Blood Cells ◽  
Three Dimensional ◽  
Normal Person ◽  
Blood Disease ◽  
Computation Technique ◽  
Important Basis

This is a combined study of two diffirent branches, photogrammetry and morphology of blood cells. The three dimensional quantitative analysis of erythrocytes using SEMP technique, electron computation technique and photogrammetry theory has made it possible to push the study of mophology of blood cells from LM, TEM, SEM to a higher stage, that of SEM P. A new path has been broken for deeply study of morphology of blood cells.In medical view, the abnormality of the quality and quantity of erythrocytes is one of the important changes of blood disease. It shows the abnormal blood—making function of the human body. Therefore, the study of the change of shape on erythrocytes is the indispensable and important basis of reference in the clinical diagnosis and research of blood disease.The erythrocytes of one normal person, three PNH Patients and one AA patient were used in this experiment. This research determines the following items: Height;Length of two axes (long and short), ratio; Crevice in depth and width of cell membrane; Circumference of erythrocytes; Isoline map of erythrocytes; Section map of erythrocytes.

Histological verification of non-specific aorta-arteritis (Takayasu's arteritis) using percutaneous transluminal atherectomy

VASA ◽  
2004 ◽  
Vol 33 (4) ◽  
pp. 247-251 ◽  
Author(s):  
Zeller ◽  
Koch ◽  
Frank ◽  
Bürgelin ◽  
Schwarzwälder ◽  
...  
Keyword(s):  
Clinical Diagnosis ◽  
Axillary Artery ◽  
Takayasu’S Arteritis ◽  
Giant Cells ◽  
Interventional Therapy ◽  
Takayasu's Arteritis ◽  
New Device ◽  
First Case ◽  
Anti Inflammatory ◽  
Percutaneous Transluminal

Diagnosis of non-specific aorto-arteritis (NSAA, Takaysu's arteritis) is typically based on clinical and investigational parameters. We report here about two patients with clinically suspected diagnosis of a Takayasu's arteritis already under anti-inflammatory therapy in whom percutaneous transluminal atherectomy of subclavian and axillary artery stenoses was performed to relief the patients from symptoms – intermittent dyspraxia of the arms – and to verify the clinical diagnosis by histology. In the first case aorto-arteritis could be histologically confirmed through the analysis of plaque material including media structures excised from the subclavian and axillary arteries using a new device for atherectomy. The biopsy showed diffuse inflammation and granulomatous lesions with giant cells typically for Takayasu's disease. In the second patient, biopsy showed no acute or chronic inflammatory signs but only atherosclerotic lesions. Percutaneous transluminal atherectomy is therefore not only an interventional but also a diagnostic tool and should be used in every case of interventional therapy of suspected aorto-arteritis to make the clinical diagnosis and as a major consequence the initiation of an aggressive anti-inflammatory medical therapy more reliable.

Sonography of subcutaneous tissue cannot determine causes of lower limb edema

VASA ◽  
2015 ◽  
Vol 44 (2) ◽  
pp. 122-128 ◽  
Author(s):  
Mandy Becker ◽  
Tom Schilling ◽  
Olga von Beckerath ◽  
Knut Kröger
Keyword(s):  
Clinical Diagnosis ◽  
Lower Limb ◽  
Subcutaneous Tissue ◽  
Hepatic Disease ◽  
Clinical Use ◽  
Single Image ◽  
Heart Insufficiency ◽  
Chronic Hepatic Disease ◽  
Limb Edema ◽  
Venous Disorders

Background: To clarify the clinical use of sonography for differentiation of edema we tried to answer the question whether a group of doctors can differentiate lymphedema from cardiac, hepatic or venous edema just by analysing sonographic images of the edema. Patients and methods: 38 (70 ± 12 years, 22 (58 %) females) patients with lower limb edema were recruited according the clinical diagnosis: 10 (26 %) lymphedema, 16 (42 %) heart insufficiency, 6 (16 %) venous disorders, 6 (16 %) chronic hepatic disease. Edema was depicted sonographically at the most affected leg in a standardised way at distal and proximal calf. 38 sets of images were anonymised and send to 5 experienced doctors. They were asked whether they can see criteria for lymphedema: 1. anechoic gaps, 2. horizontal gaps and 3. echoic rims. Results: Accepting an edema as lymphedema if only one doctor sees at least one of the three criteria for lymphatic edema on each single image all edema would be classified as lymphatic. Accepting lymphedema only if all doctors see at least one of the three criteria on the distal image of the same patient 80 % of the patients supposed to have lymphedema are classified as such, but also the majority of cardiac, venous and hepatic edema. Accepting lymphedema only if all doctors see all three criteria on the distal image of the same patients no edema would be classified as lymphatic. In addition we separated patients by Stemmers’ sign in those with positive and negative sign. The interpretation of the images was not different between both groups. Conclusions: Our analysis shows that it is not possible to differentiate lymphedema from other lower limb edema sonographically.

Picture Recognition Errors in the Differential Diagnosis of Alzheimer’s Disease

2019 ◽  
Vol 30 (3) ◽  
pp. 157-168
Author(s):  
Helmut Hildebrandt ◽  
Jana Schill ◽  
Jana Bördgen ◽  
Andreas Kastrup ◽  
Paul Eling
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Differential Diagnosis ◽  
Clinical Diagnosis ◽  
Response Bias ◽  
Recognition Task ◽  
Discriminatory Power ◽  
False Alarms ◽  
Picture Recognition ◽  
Recognition Errors

Abstract. This article explores the possibility of differentiating between patients suffering from Alzheimer’s disease (AD) and patients with other kinds of dementia by focusing on false alarms (FAs) on a picture recognition task (PRT). In Study 1, we compared AD and non-AD patients on the PRT and found that FAs discriminate well between these groups. Study 2 served to improve the discriminatory power of the FA score on the picture recognition task by adding associated pairs. Here, too, the FA score differentiated well between AD and non-AD patients, though the discriminatory power did not improve. The findings suggest that AD patients show a liberal response bias. Taken together, these studies suggest that FAs in picture recognition are of major importance for the clinical diagnosis of AD.

The Startle Reflex Starts in the Ear

2003 ◽  
Vol 17 (4) ◽  
pp. 223-224
Author(s):  
A.G. Gordon
Keyword(s):  
Startle Reflex

Challenges of Fear Conditioning Research in the Age of RDoC

2017 ◽  
Vol 225 (3) ◽  
pp. 189-199 ◽  
Author(s):  
Tina B. Lonsdorf ◽  
Jan Richter
Keyword(s):  
Fear Conditioning ◽  
Clinical Diagnosis ◽  
Research Domain Criteria ◽  
Major Focus ◽  
The Future ◽  
Definition Of ◽  
Methodological Considerations ◽  
Research Domain

Abstract. As the criticism of the definition of the phenotype (i.e., clinical diagnosis) represents the major focus of the Research Domain Criteria (RDoC) initiative, it is somewhat surprising that discussions have not yet focused more on specific conceptual and procedural considerations of the suggested RDoC constructs, sub-constructs, and associated paradigms. We argue that we need more precise thinking as well as a conceptual and methodological discussion of RDoC domains and constructs, their interrelationships as well as their experimental operationalization and nomenclature. The present work is intended to start such a debate using fear conditioning as an example. Thereby, we aim to provide thought-provoking impulses on the role of fear conditioning in the age of RDoC as well as conceptual and methodological considerations and suggestions to guide RDoC-based fear conditioning research in the future.

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