Atypical Presentations

2022 ◽  
pp. 219-241
Author(s):  
Louis J. Imbriano ◽  
Nobuyuki Miyawaki ◽  
Joseph Mattana ◽  
Shayan Shirazian ◽  
John K. Maesaka
Keyword(s):  
Atypical Presentations

Acute hepatic porphyrias for the neurologist: current concepts and perspectives

2021 ◽  
Author(s):  
Paulo Victor Sgobbi de Souza ◽  
Bruno de Mattos Lombardi Badia ◽  
Igor Braga Farias ◽  
Eduardo Augusto Gonçalves ◽  
Wladimir Bocca Vieira de Rezende Pinto ◽  
...  
Keyword(s):  
Central Nervous System Involvement ◽  
Therapeutic Interventions ◽  
Inborn Errors ◽  
Intravenous Glucose ◽  
Inherited Metabolic Disorders ◽  
Life Threatening ◽  
Acute Porphyrias ◽  
Diagnostic Work ◽  
Atypical Presentations ◽  
Interfering Rna

ABSTRACT Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias. Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias. Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients. Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.

An audit and insights from clinical exome sequencing in psychiatry: genotype-phenotype correlation

2020 ◽  
Author(s):  
Jayant Mahadevan ◽  
Reeteka Sud ◽  
Ravi Kumar Nadella ◽  
Vani P ◽  
Anand G Subramaniam ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Psychiatric Symptoms ◽  
Pathogenic Variant ◽  
Clinical Exome Sequencing ◽  
Mapt Gene ◽  
Nf1 Gene ◽  
Novel Variant ◽  
History Of ◽  
Atypical Presentations ◽  
Minor Physical Anomalies

BACKGROUND:Psychiatric syndromes have polymorphic symptomatology, and are known to be heritable. Psychiatric symptoms (and even syndromes) often occur as part of the clinical presentation in rare Mendelian syndromes. Clinical exome sequencing reports may help with refining diagnosis and influence treatment decisions, in addition to providing a window into the biology of brain and behaviour. We describe a clinical audit of 12 individuals who sought treatment at our hospital, and for whom targeted sequencing was ordered. Three cases are discussed in detail to demonstrate correlations between genotype and phenotype in the clinic.METHODS:Targeted Next-Generation Sequencing (NGS) was done using Clinical Exome Panel (TruSight One, Illumina) covering coding exons and flanking intronic sequences of 4811 genes associated with known inherited diseases. Variants detected were classified according to the American College for Medical Genetics (ACMG) recommendation for standards of interpretation and reporting of sequence variations.RESULTS:Ten out of twelve cases had at least one pathogenic variant. In one of these cases, we detected a known pathogenic variant in MAPT gene in a suspected FTD case, which helped us to confirm the diagnosis. In another case, we detected a novel variant predicted to be deleterious in NF1 gene. Identification of this mutation suggested a change in treatment for the patient, that was of benefit. The same patient also harboured a novel variant in the TRIO gene. This gene may be involved in biological processes that underlie the patient’s psychiatric illness.CONCLUSIONS:The cases discussed here exemplify different scenarios under which targeted exome sequencing can find meaningful application in the clinic: confirming diagnosis (MAPT variant), or modifying treatment (NF1). We suggest that clinical exome sequencing can be a helpful addition to a clinician’s toolkit when there are expediting factors to consider— such as early-onset, strong family history of mental illness, complex/atypical presentations and minor physical anomalies or neurocutaneous markers.

scholarly journals 451. Evaluation of Exposure History in Healthcare Personnel with Coronavirus 2019 Disease

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S293-S293
Author(s):  
Sandra Silva ◽  
Thriveen Mana ◽  
Davinder Bhullar ◽  
Beatrice Tabor ◽  
Curtis Donskey
Keyword(s):  
High Risk ◽  
Risk Exposure ◽  
Healthcare Personnel ◽  
Administrative Personnel ◽  
Asymptomatic Carriage ◽  
Moderate Disease ◽  
Control And Prevention ◽  
History Of ◽  
Exposure History ◽  
Atypical Presentations

Abstract Background During the Coronavirus Disease 2019 (COVID-19) pandemic, many healthcare personnel (HCP) have developed COVID-19. However, there is uncertainty regarding whether severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was acquired at work versus in the community. Methods We conducted a cohort study to examine exposure history of personnel with COVID-19 infection or asymptomatic carriage in a VA healthcare system. High-risk exposures were classified based Centers for Disease Control and Prevention criteria. Results Of 578 personnel tested, 49 (8%) had nasopharyngeal swabs with positive PCR results, including 45 (92%) with and 4 (8%) without COVID-19 symptoms. Of the 49 cases, 21 (43%) had a documented high-risk exposure at work, including 14 exposures to COVID-19 patients and 7 exposures to colonized or infected personnel. Exposures to infected patients most often were a result of delays in recognition of COVID-19 due to atypical presentations. Exposures to personnel with COVID-19 most often involved activities such as meals when facemasks were not worn. Most cases occurred among nurses (26, 53%) and administrative personnel (10, 20%); only 3 physicians developed COVID-19. No cases occurred in personnel working on COVID-19 wards. All personnel had mild or moderate disease. Conclusion Forty-three percent of healthcare personnel with COVID-19 had prior high-risk exposures at work. Improved detection of patients with atypical presentations and efforts to reduce high-risk contacts among personnel may reduce the risk for acquisition of SARS-CoV-2. Disclosures All Authors: No reported disclosures

Unusual non-trophic ulcerations in leprosy: A case series of 17 patients

2021 ◽  
pp. 004947552199849
Author(s):  
Prakriti Shukla ◽  
Kiran Preet Malhotra ◽  
Parul Verma ◽  
Swastika Suvirya ◽  
Abir Saraswat ◽  
...  
Keyword(s):  
Erythema Nodosum ◽  
Case Series ◽  
Lepromatous Leprosy ◽  
Sweet Syndrome ◽  
Erythema Nodosum Leprosum ◽  
Leprosy Patients ◽  
Atypical Presentations ◽  
Neuropathic Ulcers

Non-neuropathic ulcers in leprosy patients are infrequently seen, and atypical presentations are prone to misdiagnosis. We evaluated diagnosed cases of leprosy between January 2017 and January 2020 for the presence of cutaneous ulceration, Ridley–Jopling subtype of leprosy, reactions and histologic features of these ulcerations. Treatment was given as WHO recommended multi-bacillary multi-drug therapy. We found 17/386 leprosy patients with non-neuropathic ulcers. We describe three causes – spontaneous cutaneous ulceration in lepromatous leprosy (one nodular and one diffuse), lepra reactions (five patients with type 1; nine with type 2, further categorised into ulcerated Sweet syndrome-like who also had pseudoepitheliomatous hyperplasia, pustulo-necrotic and necrotic erythema nodosum leprosum) and Lucio phenomenon (one patient). Our series draws attention towards the different faces of non-neuropathic ulcers in leprosy, including some atypical and novel presentations.

scholarly journals Clinical presentation of strokes confined to the insula: a systematic review of literature

2021 ◽  
Author(s):  
Vincenzo Di Stefano ◽  
Maria Vittoria De Angelis ◽  
Chiara Montemitro ◽  
Mirella Russo ◽  
Claudia Carrarini ◽  
...  
Keyword(s):  
Systematic Review ◽  
Clinical Presentation ◽  
Insular Cortex ◽  
Affective Processing ◽  
Appropriate Treatment ◽  
Insula Cortex ◽  
Atypical Presentations ◽  
High Level ◽  
To Receive ◽  
Insular Region

Abstract Background and purpose The insular cortex serves a wide variety of functions in humans, ranging from sensory and affective processing to high-level cognition. Hence, insular dysfunction may result in several different presentations. Ischemic strokes limited to the insular territory are rare and deserve a better characterization, to be quickly recognized and to receive the appropriate treatment (e.g. thrombolysis). Methods We reviewed studies on patients with a first-ever acute stroke restricted to the insula. We searched in the Medline database the keywords “insular stroke” and “insular infarction”, to identify previously published cases. Afterwards, the results were divided depending on the specific insular region affected by the stroke: anterior insular cortex (AIC), posterior insular cortex (PIC) or total insula cortex (TIC). Finally, a review of the clinical correlates associated with each region was performed. Results We identified 25 reports including a total of 49 patients (59.7 ± 15.5 years, 48% male) from systematic review of the literature. The most common clinical phenotypes were motor and somatosensory deficits, dysarthria, aphasia and a vestibular-like syndrome. Atypical presentations were also common and included dysphagia, awareness deficits, gustatory disturbances, dysautonomia, neuropsychiatric or auditory disturbances and headache. Conclusions The clinical presentation of insular strokes is heterogeneous; however, an insular stroke should be suspected when vestibular-like, somatosensory, speech or language disturbances are combined in the same patient. Further studies are needed to improve our understanding of more atypical presentations.

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