scholarly journals Neuropsychiatric Manifestations of Acute Intermittent Porphyria – A Diagnostic Dilemma

2020 ◽  
pp. 13-18
Author(s):  
Aratrika Sen ◽  
Tamoghna Bandyopadhyay ◽  
Ranjan Bhattacharyya

Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway (also called porphyrin pathway). They are broadly classified as acute (hepatic) porphyrias and cutaneous (erythropoietic) porphyrias, based on the site of the overproduction and accumulation of the porphyrins or their chemical precursors. They manifest with either neuropsychiatric complications or skin problems or occasionally both. A clinically induced and histologically identical condition is called pseudo porphyria which is characterized by normal serum and urine porphyrin levels.

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Fatemeh Sadat Mirfazeli ◽  
Atiye Sarabi-Jamab ◽  
Amin Jahanbakhshi ◽  
Alireza Kordi ◽  
Parisa Javadnia ◽  
...  

AbstractSeveral studies have reported clinical manifestations of the new coronavirus disease. However, few studies have systematically evaluated the neuropsychiatric complications of COVID-19. We reviewed the medical records of 201 patients with confirmed COVID-19 (52 outpatients and 149 inpatients) that were treated in a large referral center in Tehran, Iran from March 2019 to May 2020. We used clustering approach to categorize clinical symptoms. One hundred and fifty-one patients showed at least one neuropsychiatric symptom. Limb force reductions, headache followed by anosmia, hypogeusia were among the most common neuropsychiatric symptoms in COVID-19 patients. Hierarchical clustering analysis showed that neuropsychiatric symptoms group together in three distinct groups: anosmia and hypogeusia; dizziness, headache, and limb force reduction; photophobia, mental state change, hallucination, vision and speech problem, seizure, stroke, and balance disturbance. Three non-neuropsychiatric cluster of symptoms included diarrhea and nausea; cough and dyspnea; and fever and weakness. Neuropsychiatric presentations are very prevalent and heterogeneous in patients with coronavirus 2 infection and these heterogeneous presentations may be originating from different underlying mechanisms. Anosmia and hypogeusia seem to be distinct from more general constitutional-like and more specific neuropsychiatric symptoms. Skeletal muscular manifestations might be a constitutional or a neuropsychiatric symptom.


Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 1497-1497 ◽  
Author(s):  
Stephen Holding ◽  
Dorothy Spradbery ◽  
Ewan J.D. Robson ◽  
Philip C. Dore ◽  
Rachel Wilmot ◽  
...  

Abstract Introduction: Screening for multiple myeloma requires both serum and urine protein electrophoresis, because in about 20% of patients with myeloma, monoclonal free light chain (FLC) is the only paraprotein found, and it is commonly missed by serum protein electrophoresis. However, many requests for testing do not include a urine sample (>80% of requests in our experience). This risks missing clinically significant disease. Recent availability of serum FLC assays has raised the possibility that these assays may replace testing for urinary FLC in screening for monoclonal gammopathies, and that the serum kappa:lambda light chain ratio (LCR) may be more sensitive for detecting monoclonal FLC than serum and urine protein gel electrophoresis. Aims: To identify how many additional patients with monoclonal gammopathies would be detected if serum FLC assays were incorporated into the routine myeloma screen. To evaluate the ability of serum FLC assays to identify all patients identified by urine protein electrophoresis. Method and Setting: We analysed data from a consecutive cohort of 753 serum blood samples submitted for myeloma screening to Hull Royal Infirmary Immunology Laboratory between 03/23/07 and 05/31/07. During this period all myeloma screen requests received serum capillary zone protein electrophoresis (CE) (SEBIA Capillarys 2, Analytical Technologies) and serum FLC analysis using a latex-enhanced immunoassay (The Binding Site, Birmingham, UK on a Beckman-Coulter IMMAGE nephelometric analyzer). When available, urine protein CE was also perfomed (SEBIA Capillarys 2). Samples with an abnormal serum CE or serum LCR were tested by immunofixation (SEBIA Hydrasys, Analytical Technologies). Repeat samples were requested from patients with LCR outside the reference interval (0.26–1.65) before referral, but an immediate hematology referral was recommended if LCR >3.5 sd from the mean (ie 0.18–2.01). Results: Of 753 patients, 118 had features on serum CE requiring immunofixation. Of these, 76 had a monoclonal paraprotein identified. A further 46 samples had normal serum CE with abnormal LCR and 25 of these had LCR outide mean±3.5 sd. Of 6 patients so far referred as a result of abnormal LCR but normal serum CE, 4 (67%) had a lymphoproliferative disease (free kappa myeloma, free kappa MGUS, free lambda MGUS, and a chronic lymphocytic leukaemia). Urine samples were received from 128 (17%) patients, of whom 8 (6%) had a monoclonal FLC identified in the urine. All of these patients had an abnormal serum LCR, though in one patient with acute renal failure and raised kappa and lambda results the LCR was borderline abnormal (1.75), with a very small band in the urine, visible only by agarose gel immunofixation. For the 2 patients with normal serum CE, but with urinary monoclonal FLC present, serum LCR was abnormal (LCR= 33 and 1.75). Discussion and Conclusions: Use of serum FLC assays increased the detection of monoclonal paraproteins (by 5% so far but further follow up is required to quantify this exactly). Serum FLC analysis had a sensitivity of 100% for identifying patients with urinary FLC.


2021 ◽  
Vol 12 ◽  
Author(s):  
Matthew Butler ◽  
Afraa Delvi ◽  
Fedza Mujic ◽  
Sophie Broad ◽  
Lucy Pauli ◽  
...  

Background: The COVID-19 pandemic led to changes in the way that healthcare was accessed and delivered in the United Kingdom (UK), particularly during the peak of the first lockdown period (the “first wave”) beginning in March 2020. In some patients, COVID-19 is associated with acute neuropsychiatric manifestations, and there is suggestion that there may also be longer term neuropsychiatric complications. Despite this, at the time of writing there are only emerging data on the direct effects of the COVID-19 pandemic on psychiatric care.Methods: In this retrospective study we analyzed referrals to an inpatient liaison psychiatry department of a large acute teaching hospital during the first wave of covid-19 in the UK and compared this data to the same period in 2019.Results: We saw a 40% reduction in the number of referrals in 2020, with an increase in the proportion of referrals for both psychosis or mania and delirium. Almost one third (28%) of referred patients tested positive for COVID-19 at some point during their admission, with 40% of these presenting with delirium as a consequence of their COVID-19 illness. Save delirium, we did not find evidence for high prevalence of new-onset acute mental illness in COVID-19 positive patients.Conclusion: Our data indicate decreased clinical activity in our inpatient psychiatry liaison department during the first wave of the COVID-19 pandemic, although a relative increase in relative increase in referrals for psychosis or mania, suggesting less of a relative decrease in more severe cases of mental illness. The reasons for this are likely multifactorial, including structural changes in the NHS and patient reluctance to present to emergency departments (ED) due to infection fears and Government advice. Our data also supports the literature suggesting the high relative prevalence of delirium in COVID-19, and we support integration of psychiatry liaison teams in acute general hospital wards to optimize delirium management. Finally, consideration should be given to adequate staffing of community and crisis mental health teams to safely manage the mental health of people reluctant to visit EDs.


2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Sundus Sardar ◽  
Mhd-Baraa Habib ◽  
Aseel Sukik ◽  
Bashar Tanous ◽  
Sara Mohamed ◽  
...  

Background. Hypothyroidism is a prevalent endocrine disorder, often presenting with a spectrum of symptoms reflecting a hypothyroid state. It is also generally linked to causing mood swings, psychomotor slowing, and fatigue; however, in rare instances, it may lead to or induce acute psychosis, a condition referred to as myxedema psychosis (MP). We report a case of myxedema psychosis and present a literature review discussing its presentation, diagnosis, management, and prognosis. Case Presentation. A 36-year-old lady presented with one-week history of persecutory and paranoid delusions, along with visual and auditory hallucinations. She had no prior history of psychiatric illnesses. She underwent total thyroidectomy three years before the current presentation due to papillary thyroid cancer. She was not on regular follow-up, nor any specific therapy. On examination, she was agitated and violent. There were no signs of myxedema, and the physical exam was unremarkable. The initial workup showed a mild elevation in serum creatinine. Additional investigations revealed a high thyroid-stimulating hormone (TSH) of 56.6 mIU/L, low free T4<0.5 pmol/L, elevated creatine kinase of 3601 U/L, and urine dipstick positive for blood, suggestive of myoglobinuria. MRI of the head was unremarkable. We diagnosed her as a case of myxedema psychosis and mild rhabdomyolysis. She was started on oral thyroxine 100 mcg/day, fluoxetine 20 mg daily, and as-needed haloperidol. She was closely followed and later transferred to the Psychiatry Hospital for further management. Within one week, her symptoms improved completely, and she was discharged off antipsychotics with additional scheduled follow-ups to monitor TFTs and observe for any recurrence. Discussion and Conclusion. Myxedema psychosis is a rare presentation of hypothyroidism—a common endocrine disorder. Scarce data are describing this entity; hence, there is currently a lack of awareness amongst clinicians regarding proper identification and management. Moreover, the atypical nature of presentations occasionally adds to a diagnostic dilemma. Thus, any patient with new-onset psychosis should be screened for hypothyroidism, and awareness of this entity must be emphasized amongst clinicians and guideline makers.


2017 ◽  
Vol 41 (S1) ◽  
pp. S694-S694
Author(s):  
R. Martín Gutierrez ◽  
P. Suarez Pinilla ◽  
R. Medina Blanco ◽  
R. Landera Rodriguez ◽  
M. Juncal Ruiz ◽  
...  

IntroductionGlucocorticoids are widely prescribed for a variety of diseases and are known to cause neuropsychiatric as well as somatic side effects.ObjectiveTo review the incidence, clinical characteristics, course and treatment of neuropsychiatric effects of glucocorticoids.AimWe have described the case of a 86-year-old woman. She had no personal and no psychiatric medical history in her family. She presented wrist arthritis requiring high doses of an oral corticoid treatment (prednisona 20 mg/d). After a week, she started with symptoms characterised by persecutory and surveillance delusions. Organicity was ruled out. The patient got a progressive recovery after starting anti-psychotic medication and progressive reduction of the steroid drugs.MethodsWe have performed a literature review of the neuropsychiatric complications of glucocorticoids using the PubMed database.ResultsNeuropsychiatric effects of glucocorticoids involve affective, behavioural, and cognitive manifestations. The incidence is variable, between 2 and 60% of patients who receive steroids. Although the effects of glucocorticoids are unpredictable, the administered dose is the most significant risk factor for the development of neuropsychiatric symptoms. Dosage reduction typically results in clinical recovery. Although the limited data on this subject, it is a problem that clinicians face on their regular basis. The administration of anti-psychotics or mood stabilizers may be beneficial in the prevention and treatment of this syndrome.ConclusionThe neuropsychiatric effects of glucocorticoids are unpredictable and non-specific. More controlled trials are needed in order to perform evidence-based clinical guidelines for the treatment with glucocorticoids and for the prevention of neuropsychiatric manifestations.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2015 ◽  
Vol 31 (3) ◽  
pp. 407
Author(s):  
Nita Hazarika ◽  
Namita Saraswat ◽  
Rajesh Sood ◽  
MohanDeep Kaur

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