scholarly journals Reversible Severe Rhabdomyolysis Associated with Thyrotoxic Hypokalemic Periodic Paralysis

2021 ◽  
pp. 394-397
Author(s):  
Praewchompoo Sathirapanya ◽  
Komsai Suwanno ◽  
Pornchai Sathirapanya
Keyword(s):  
Creatine Kinase ◽  
Family History ◽  
Case Reports ◽  
Specific Treatment ◽  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis ◽  
Gated Channel ◽  
History Of ◽  
Symptoms And Signs ◽  
Thyrotoxic Hypokalemic Periodic Paralysis

We report a case of reversible symptomatic rhabdomyolysis associated with thyrotoxic hypokalemic periodic paralysis. The patient had neither past medical nor family history of either disorder. The presenting neurological symptoms and signs, serum potassium, and creatine kinase levels returned to normal without specific treatment. Based on previous case reports, we attributed the combination of the disorders to a mutation of the calcium-gated channel (CACN) gene and its related encoded proteins.

scholarly journals Clozapine-induced stuttering in the absence of known risk factors: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Florence Jaguga
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Side Effect ◽  
Case Reports ◽  
Extrapyramidal Symptoms ◽  
Prior History ◽  
Case Presentation ◽  
Rare Side Effect ◽  
History Of ◽  
Electrophysiological Findings

Abstract Background Stuttering is a rare side effect of clozapine. It has been shown to occur in the presence of one or more factors such as abnormal electrophysiological findings and seizures, extrapyramidal symptoms, brain pathology, and a family history of stuttering. Few case reports have documented the occurrence of clozapine-induced stuttering in the absence of these risk factors. Case presentation A 29-year-old African male on clozapine for treatment-resistant schizophrenia presented with stuttering at a dosage of 400 mg/day that resolved with dose reduction. Electroencephalogram findings were normal, and there was no clinical evidence of seizures. The patient had no prior history or family history of stuttering, had a normal neurological examination, and showed no signs of extrapyramidal symptoms. Conclusion Clinicians ought to be aware of stuttering as a side effect of clozapine, even in the absence of known risk factors. Further research should investigate the pathophysiology of clozapine-induced stuttering.

scholarly journals A Mutation in the KCNE3 Potassium Channel Gene Is Associated with Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

2002 ◽  
Vol 87 (11) ◽  
pp. 4881-4884 ◽  
Author(s):  
Magnus R. Dias Da Silva ◽  
Janete M. Cerutti ◽  
Liliane A. T. Arnaldi ◽  
Rui M. B. Maciel
Keyword(s):  
Direct Sequencing ◽  
Genetic Defect ◽  
Sporadic Case ◽  
Ionic Channel ◽  
Periodic Paralysis ◽  
Resting Membrane Potential ◽  
Hypokalemic Periodic Paralysis ◽  
Dominant Disease ◽  
Periodic Paralyses ◽  
Thyrotoxic Hypokalemic Periodic Paralysis

Abstract Hypokalemic Periodic Paralyses comprise diverse diseases characterized by acute and reversible attacks of severe muscle weakness, associated with low serum potassium. The most common causes are Familial Hypokalemic Periodic Paralysis (FHypoKPP), an autosomal dominant disease, and Thyrotoxic Hypokalemic Periodic Paralysis (THypoKPP), secondary to thyrotoxicosis. Symptoms of paralysis are similar in both diseases, distinguished by thyrotoxicosis present in THypoKPP. FHypoKPP is caused by mutations in ionic channel genes calcium (CACN1AS), sodium (SCN4A) and potassium (KCNE3). Since both diseases are similar, we tested the hypothesis that THypoKPP could carry the same mutations described in FHypoKPP, being the paralysis a genetically conditioned complication of thyrotoxicosis. In 15 patients with THypoKPP, using target-exon PCR, CSGE screening, and direct sequencing, we excluded known mutations in CACN1AS and SCN4A genes. On the other hand, we were able to identify the R83H mutation in the KCNE3 gene in one sporadic case of THypoKPP, a man who had been asymptomatic until developing thyrotoxicosis caused by Graves’ disease; we confirmed the disease-causing mutation in 2 of 3 descendants. R83H was recently found in two FHypoKPP unrelated families, in which the mutant decreased outward potassium flux, resulting in a more positive resting membrane potential. We, therefore, identified the first genetic defect in THypoKPP, a mutation in the KCNE3 gene.

Who Responds to Prophylactic Lithium Therapy?

1993 ◽  
Vol 163 (S21) ◽  
pp. 20-26 ◽  
Author(s):  
M. T. Abou-Saleh
Keyword(s):  
Bipolar Disorder ◽  
Family History ◽  
Bipolar Affective Disorder ◽  
Positive Family History ◽  
Specific Treatment ◽  
Predictors Of Outcome ◽  
Powerful Predictor ◽  
Bipolar Illness ◽  
History Of ◽  
Psychotic Features

The search for predictors of outcome has not been particularly rewarding, and the use of lithium remains empirical: a trial of lithium is the most powerful predictor of outcome. However, lithium is a highly specific treatment for bipolar disorder. In non-bipolar affective disorder, factors of interest are correlates of bipolar disorder: mood-congruent psychotic features, retarded-endogenous profile, cyclothymic personality, positive family history of bipolar illness, periodicity, and normality between episodes of illness.

scholarly journals Study of incidence and prevalence of hypokalemic periodic paralysis

2019 ◽  
Vol 7 (3) ◽  
pp. 810
Author(s):  
Ajith Dungdung ◽  
Vishwanath Malkappa Jalawadi ◽  
Upendra Prasad Yadav
Keyword(s):  
Tertiary Care ◽  
Medical Science ◽  
Periodic Paralysis ◽  
High Carbohydrate Diet ◽  
Strenuous Exercise ◽  
Hypokalemic Periodic Paralysis ◽  
Tertiary Care Centre ◽  
Carbohydrate Diet ◽  
High Carbohydrate ◽  
History Of

Background: Hypokalemic periodic paralysis (HPP) is a rare autosomal dominant channelopathy characterised by muscle weakness or paralysis when there is a fall of potassium level in the blood. In individuals with mutation, attack begins during adolescents and most commonly occurs after sleep on awakening, rest after strenuous exercise, high carbohydrate diet and meal with high sodium content. This study was conducted to analyse the age of incidence and prevalence of HPP with various clinical presentations, diagnosis and its effective treatment.Methods: A retrospective analysis of 50 patients of Hypokalemic periodic paralysis was analysed in tertiary care centre “Rajendra institute of medical science” Ranchi, Jharkhand, India, with reference to its clinical presentation, age of incidence and prevalence with laboratory parameters and treatment outcomes.Results: Incidence of attack is more common in men between 26-35 years of age. Sudden onset of flaccid quadriparesis was the most common presentation with history of high carbohydrate diet on the background of strenuous work during summer season. Around 60% had similar history of attacks in the past and most of the patients had serum potassium levels between 2.1-3.0mEq/L. Electrocardiography (ECG) abnormalities associated with hypokalemia had been observed in 90% of patients, and also significant clinical, biochemical changes have been observed as well.Conclusions: Early diagnosis not only helps in definitive management with potassium replacement, but also prevents patient going for life threatening respiratory failure.  Patients recover completely without any clinical sequelae. Therefore, it is imperative for physicians, particularly those working in acute care settings, to be aware of this condition. Further management depends on the cause, frequency of attacks, severity of symptoms and the duration of the illness.

scholarly journals Congenital cutis laxa with multi-system involvement

2020 ◽  
Vol 6 (2) ◽  
pp. 253
Author(s):  
Karan Malhotra ◽  
Karjigi Siddalingappa ◽  
Kallappa C. Herakal
Keyword(s):  
Respiratory Tract Infections ◽  
Case Reports ◽  
Specific Treatment ◽  
Cutis Laxa ◽  
Single Patient ◽  
Genitourinary System ◽  
Cosmetic Appearance ◽  
History Of ◽  
Tract Infections ◽  
Recurrent Respiratory Tract Infections

<p class="abstract">Cutis laxa is a heterogeneous group of inherited and acquired rare connective tissue disease characterized by loose, wrinkled, and inelastic skin. It clinically presents as loose skin with folds giving a premature aged appearance. Cutis laxa is very rare, with an estimated incidence of one in 4 million. There are many case reports on acquired cutis laxa but very few on “congenital” cutis laxa. Authors report a 15 years old female presenting with a history of recurrent respiratory tract infections since the age of 2 years associated with flaccid skin all over her body and extensive loose folds of skin over face, neck, abdomen, arms and thighs since birth. Cutis laxa has been diagnosed based on the clinical picture and histopathological appearance. No medical treatment is available for correction of the pathology of disease. Plastic surgery remains the only modality of treatment to improve the cosmetic appearance. Systemic abnormalities need specific treatment depending upon the condition. The purpose of this report is due to its rarity and involvement of skin, hairs, respiratory, cardiovascular and genitourinary system in a single patient.</p>

Genetic Screening of Patients with Thyrotoxic Hypokalemic Periodic Paralysis: An Experience from a Tertiary Care Hospital in the Northeast of Brazil

2021 ◽  
Vol 21 ◽  
Author(s):  
Cossi Y. Gbefon ◽  
Carla P. S. Sobral ◽  
Adriana Caldas ◽  
Viviane C. C. Rocha ◽  
Rossana S. S. Azulay ◽  
...  
Keyword(s):  
Tertiary Care ◽  
Point Mutations ◽  
Genetic Alterations ◽  
Periodic Paralysis ◽  
The Other ◽  
Care Hospital ◽  
Hypokalemic Periodic Paralysis ◽  
Pathogenic Potential ◽  
Molecular Abnormalities ◽  
Thyrotoxic Hypokalemic Periodic Paralysis

Background: Thyrotoxic hypokalemic periodic paralysis (THPP) is a rare neuromuscular disease characterized by recurrent episodes of skeletal muscle weakness associated with hypokalemia. Alterations in protein-encoding genes that are part of ion channels seem to be related to the development of this disease. However, the pathogenic potential of some variants in these genomic regions is not yet fully understood. The aim of this study was to screen genetic alterations in regions coding for calcium (cav1.1), sodium (nav1.4), and potassium (Kir2.6) channels, evaluating its impact on the phenotype of patients with THPP. Method: Four patients with a diagnosis of THPP followed by the Endocrinology Service of the University Hospital of the Federal University of Maranhão (Brazil)were investigated for the presence of molecular abnormalities in CACNA1S, SCN4A, and KCNJ18 genes. Result: The KCNJ18 analysis revealed at least one polymorphic variant in each patient. Considering the haplotypic classification of R39Q, R40H, A56E, and I249V variants, two cases were named Kir2.6_RRAI and the other two patients were named Kir2.6_QHEV. No patient had point mutations in the regions evaluated for CACNA1S and SCN4A genes. Conclusion: The identification of the Kir2.6_RRAI and Kir2.6_QHEV haplotypes reinforces the existence of two main haplotypes involving these four loci of the KCNJ18gene. On the other hand, point mutations in CACNA1S, SCN4A, and KCNJ18 genes do not seem to be the main mechanism of pathogenesis of THPP, indicating that many questions about this topic still remain unclear. So, the diagnosis of this rare disorder should still be based on clinical and biochemical aspects presented by the patient.

scholarly journals Ayahuasca, dimethyltryptamine, and psychosis: a systematic review of human studies

2017 ◽  
Vol 7 (4) ◽  
pp. 141-157 ◽  
Author(s):  
Rafael G. dos Santos ◽  
José Carlos Bouso ◽  
Jaime E. C. Hallak
Keyword(s):  
Systematic Review ◽  
Family History ◽  
Adverse Reactions ◽  
Population Studies ◽  
Case Reports ◽  
Case Series ◽  
Lysergic Acid ◽  
Psychotic Illness ◽  
History Of ◽  
Low Incidence

Ayahuasca is a hallucinogen brew traditionally used for ritual and therapeutic purposes in Northwestern Amazon. It is rich in the tryptamine hallucinogens dimethyltryptamine (DMT), which acts as a serotonin 5-HT2A agonist. This mechanism of action is similar to other compounds such as lysergic acid diethylamide (LSD) and psilocybin. The controlled use of LSD and psilocybin in experimental settings is associated with a low incidence of psychotic episodes, and population studies corroborate these findings. Both the controlled use of DMT in experimental settings and the use of ayahuasca in experimental and ritual settings are not usually associated with psychotic episodes, but little is known regarding ayahuasca or DMT use outside these controlled contexts. Thus, we performed a systematic review of the published case reports describing psychotic episodes associated with ayahuasca and DMT intake. We found three case series and two case reports describing psychotic episodes associated with ayahuasca intake, and three case reports describing psychotic episodes associated with DMT. Several reports describe subjects with a personal and possibly a family history of psychosis (including schizophrenia, schizophreniform disorders, psychotic mania, psychotic depression), nonpsychotic mania, or concomitant use of other drugs. However, some cases also described psychotic episodes in subjects without these previous characteristics. Overall, the incidence of such episodes appears to be rare in both the ritual and the recreational/noncontrolled settings. Performance of a psychiatric screening before administration of these drugs, and other hallucinogens, in controlled settings seems to significantly reduce the possibility of adverse reactions with psychotic symptomatology. Individuals with a personal or family history of any psychotic illness or nonpsychotic mania should avoid hallucinogen intake.

Thyrotoxic hypokalemic periodic paralysis

2000 ◽  
Vol 2000 (2) ◽  
pp. 25
Author(s):  
E. H. Al Khaledy ◽  
N. Ashour ◽  
S. Al Mutairi
Keyword(s):  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis ◽  
Thyrotoxic Hypokalemic Periodic Paralysis
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