keyword
https://read.qxmd.com/read/38716013/hyperinsulinemic-state-and-hypokalemic-quadriparesis-in-tropical-fever-is-there-a-link
#1
Amitabha Saha, Arjun Talapatra, Sushmita Basu, Souvik Sarkar, Sourav Sarkar
It is rare for quadriparesis to manifest as a symptom of tropical illnesses. With a history of only one fever episode one week prior, our patient, a 48-year-old male with obesity and prediabetes, who was also known to have ankylosing spondylitis, presented with acute onset flaccid quadriparesis. He did not exhibit any additional symptoms of dengue, such as bleeding tendencies, petechial rashes, thrombocytopenia, or febrile episodes. Upon examination, it was discovered that he had extremely low serum potassium levels and was dengue non-specific antigen 1 (NS1) positive...
April 2024: Curēus
https://read.qxmd.com/read/38633359/spontaneous-adrenal-hemorrhage-in-a-pregnant-woman-with-glucocorticoid-resistance-syndrome
#2
Varsha Jagtap, Anurag Lila, Manjiri Karlekar, Vijaya Sarathi, Tushar Bandgar
Glucocorticoid resistance syndrome is a rare disorder with no genetically proven cases reported from India; in addition, there are no descriptions available regarding its management during pregnancy. A 27-year-old woman, hypertensive since the age of 17 years, presented with hypokalemic paresis. She reported regular menses and acne. On investigation, she had elevated serum cortisol that remained unsuppressed after a low-dose dexamethasone suppression test. Genetic analysis revealed a novel, homozygous missense variant in exon 5 of the NR3C1 gene confirming glucocorticoid resistance syndrome...
April 2024: JCEM Case Rep
https://read.qxmd.com/read/38609989/genetic-analysis-of-37-cases-with-primary-periodic-paralysis-in-chinese-patients
#3
JOURNAL ARTICLE
Xuechao Zhao, Haofeng Ning, Lina Liu, Chaofeng Zhu, Yinghui Zhang, Guifang Sun, Huanan Ren, Xiangdong Kong
BACKGROUND: Primary periodic paralysis (PPP) is an inherited disorders of ion channel dysfunction characterized by recurrent episodes of flaccid muscle weakness, which can classified as hypokalemic (HypoPP), normokalemic (NormoPP), or hyperkalemic (HyperPP) according to the potassium level during the paralytic attacks. However, PPP is charactered by remarkable clinical and genetic heterogeneity, and the diagnosis of suspected patients is based on the characteristic clinical presentation then confirmed by genetic testing...
April 12, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38606215/hypokalemic-periodic-paralysis-a-rare-case-of-a-descending-flaccid-paralysis
#4
Inder Preet Singh Bhatia, Jayaraj Hasvi, Pandaramparambil Saidu Nazneen, Amit Rajan
Hypokalemic periodic paralysis (HPP) is an uncommon condition resulting from channelopathy, impacting skeletal muscles. It is distinguished by episodes of sudden and temporary muscle weakness alongside low potassium levels. The normalization of potassium resolves the associated paralysis. Most of these cases are hereditary. Few cases are acquired and are associated with an etiology related to endocrine disorders (e.g., thyrotoxicosis, hyperaldosteronism, and hypercortisolism). It is characterized by acute flaccid paralysis, usually of the ascending type, affecting the proximal region more than the distal region...
March 2024: Curēus
https://read.qxmd.com/read/38508775/adult-classic-bartter-syndrome-a-case-report-with-5-year-follow-up-and-literature-review
#5
JOURNAL ARTICLE
Le Jiang, Dongmei Li, Qiansha Guo, Yunfeng Li, Lei Zan, Rihan Ao
Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, hypokalemia, hypochloremia, metabolic alkalosis, and low-to-normal blood pressure. Classic BS, or BS Type 3, the most common subtype in the Asian population, is caused by a molecular defect in ClC-Kb, a voltage-gated chloride channel in renal tubules, due to CLCNKB gene mutation. Because the onset of BS is more common in children than in adults, the diagnosis, treatment outcomes, genotype/phenotype association, and follow-up of adult-onset BS Type 3 are limited...
March 19, 2024: Endocrine Journal
https://read.qxmd.com/read/38406120/a-rare-case-of-hypokalemic-periodic-paralysis-with-acute-urinary-retention-diagnosis-and-management
#6
S Sara, Dhigvijay Tv, Gokulesh Dg, Balaji Elumalai, Mohamed Javid
Hypokalemic periodic paralysis (hypoPP) is a rare channelopathy caused by mutations in skeletal muscle ion channels that usually occurs in young individuals and adolescents. The etiology can be attributed to various factors, such as idiopathic or secondary causes. It is characterized by episodes of sudden flaccid muscle weakness. Timely detection may mitigate the risk of severe complications. Secondary causes of hypoPP, such as hyperthyroidism, should be ruled out, as this could lead to thyrotoxic periodic paralysis...
January 2024: Curēus
https://read.qxmd.com/read/38357046/physiotherapy-strategies-in-hypokalemic-periodic-paralysis-a-case-report
#7
Gunjan S Ambalkar, Neha Arya, Grisha Ratnani, Raghumahanti Raghuveer, Akshaya Saklecha
The rare neuromuscular disease known as hypokalemic periodic paralysis (hypoKPP), which results in severe muscle weakness in the extremities, is brought on by abnormalities in potassium transport within cells. Laboratory testing is confirmatory, which reveals notably low potassium levels, causing paralysis, which improves once the low potassium is restored. The patient generally complains of muscle weakness with difficulty in performing activities of daily living and impaired participation in functional tasks, with few suffering from coexisting sensory impairments...
January 2024: Curēus
https://read.qxmd.com/read/38344586/hypokalemic-periodic-paralysis-type-2-due-to-scn4a-val1105met-mutation-a-case-study
#8
Nai-Qing Hu, Jun-Yun Yang, Jin-Lin Lv, Yuan-Zhao Zhu, Li-Hua Li
Hypokalemic Periodic Paralysis Type 2 (HOKPP2) is a rare autosomal dominant disorder characterized by recurrent episodes of muscle weakness, paralysis, and hypokalemia. In this case report, we present the clinical details of a 49-year-old female diagnosed with HOKPP2. Genetic testing revealed a heterozygous mutation in the Sodium Voltage-Gated Channel Alpha Subunit 4 ( SCN4A) gene, confirming the diagnosis of HOKPP2. Management strategies, including potassium supplementation and lifestyle modifications, were implemented, resulting in a significant decrease in the frequency of symptomatic episodes...
January 2024: Curēus
https://read.qxmd.com/read/38304136/gestational-transient-thyrotoxicosis-can-lead-to-hypokalemic-periodic-paralysis
#9
JOURNAL ARTICLE
Jin Woo Jeong, Tae Yang Yu
No abstract text is available yet for this article.
January 2024: Chonnam Medical Journal
https://read.qxmd.com/read/38289796/hypokalemic-paralysis-revealing-primary-sjogren-s-syndrome-a-case-report
#10
JOURNAL ARTICLE
Pitambar Khanal, Sandip Paudel, Subodh Chapagain, Saurav Thapa, Madan Gyawali
UNLABELLED: Sjogren's syndrome is a rare chronic autoimmune disease characterised by dry eyes and dry mouth due to autoimmune destruction of the lacrimal and salivary glands, which can occur concurrently with other autoimmune diseases such as rheumatoid arthritis, systemic lupus erythematosus, or thyroiditis. It can lead to renal complications such as interstitial nephritis and glomerulonephritis, with distal/ type 1 renal tubular acidosis which may result in life-threatening electrolyte imbalance...
September 1, 2023: JNMA; Journal of the Nepal Medical Association
https://read.qxmd.com/read/38156140/graves-disease-with-initial-presentation-of-thyrotoxic-periodic-paralysis
#11
Lloyd Petty, Katie Kaput
Graves' disease is a common cause of hyperthyroidism. However, thyrotoxic periodic paralysis (TPP) is a rare complication of Graves' disease and is characterized by episodes of muscle weakness and hypokalemia in the setting of thyrotoxicosis. Episodic weakness and paralysis can be the first manifestation of Graves' disease with TPP despite lacking classic symptoms of hyperthyroidism and can be precipitated by risk factors such as a high carbohydrate diet and strenuous exercise. Although TPP is reversible with correction of hypokalemia and thyrotoxicosis, its uncommon presentation can lead to delay in diagnosis and treatment...
November 2023: Curēus
https://read.qxmd.com/read/38054114/hypokalemic-paralysis-and-hypocalcemic-tetany-paradoxical-duality-in-a-case-of-sjogren-s-syndrome
#12
Abhinav Kadam, Sourya Acharya, Sunil Kumar, Samarth Shukla, Rucha Sawant
A 26-year-old female was hospitalized with acute lower motor neuron quadriplegia. Laboratory tests pointed to the presence of distal renal tubular acidosis, which was characterized by hyperchloremic metabolic acidosis, severe hypokalemia, alkaline urine, and a positive urinary anion gap. She also had aminoaciduria, hyperphosphaturia, hypophosphatemia, and normoglycemic glycosuria, all of which are indicative of dysfunction of proximal tubules. Further investigation confirmed Sjogren's syndrome. Strangely, our patient also experienced carpopedal spasms and had low calcium and magnesium levels...
November 2023: Curēus
https://read.qxmd.com/read/38034179/newly-diagnosed-hypokalemic-periodic-paralysis-triggered-by-covid-19
#13
Kelly Schulte, Maxwell Sheedy, Kavanya Feustel, Dmitriy Scherbak
Hypokalemic periodic paralysis (HypoPP) is a rare genetic disorder characterized by low potassium levels and episodic periods of muscle weakness. HypoPP has previously been attributed to numerous viral infections; however, cases related to coronavirus disease 2019 (COVID-19) are extremely limited. The current case is thus unique and involves a healthy 23-year-old male who presented to the emergency department after several uncharacteristic falls and three days of upper and lower extremity weakness. Initial labs revealed a potassium level of 1...
October 2023: Curēus
https://read.qxmd.com/read/38028058/hypokalemic-periodic-paralysis-in-a-teenage-boy-after-an-intense-period-of-exercise-a-rare-case-report
#14
Sahar Noor, Abdul Jamil Rasooly, Sultan Mahmood Alikozai, Tooryalai Jalalzai, Ahmed Maseh Haidary, Najla Nasir, Sarah Noor, Masooma Farooqi, Husna Mansoori
KEY CLINICAL MESSAGES: Diagnosis of rare even can be missed due to less familiarity with the disorder.In patients with muscle weakness, infectious causes are prioritized.Electrolyte profile not only identifies the problem, but also prevents unnecessary workup. ABSTRACT: In underdeveloped countries, diagnosis of rare disorders is usually delayed due to less familiarity of the clinicians to such disorders. As a result, infectious and inflammatory causes for an ailment are prioritized as compared to non-infectious etiologies...
November 2023: Clinical Case Reports
https://read.qxmd.com/read/38009256/diagnostics-in-skeletal-muscle-channelopathies
#15
REVIEW
Alex Vicino, Raffaella Brugnoni, Lorenzo Maggi
INTRODUCTION: Skeletal muscle channelopathies (SMCs) are a heterogenous group of disorders, caused by mutations in skeletal ion channels leading to abnormal muscle excitability, resulting in either delayed muscle relaxation (myotonia) which characterizes non-dystrophic myotonias (NDMs), or membrane transient inactivation, causing episodic weakness, typical of periodic paralyses (PPs). AREAS COVERED: SMCs include myotonia congenita, paramyotonia congenita, and sodium-channel myotonia among NDMs, and hyper-normokalemic, hypokalemic, or late-onset periodic paralyses among PPs...
2023: Expert Review of Molecular Diagnostics
https://read.qxmd.com/read/37946884/a-thyrotoxic-periodic-paralysis-case-study-from-weakness-to-wellness
#16
Sharafath Hussain Zahir Hussain, Salam Al-Alousi, Lakshmi B Keshav, Aara Tabassum Zahir Hussain, Kirupananthan Seenithamby
Hypokalaemic periodic paralysis (HPP) is a rare disorder characterized by episodic attacks of muscle weakness and hypokalaemia. Numerous factors contributing to HPP have been identified, encompassing both hereditary and familial origins as well as acquired factors. In this context, we highlight thyrotoxicosis causing HPP. We present a case of a 40-year-old Asian individual who presented with episodes of sudden onset bilateral proximal limb weakness and palpitations. Laboratory investigations revealed severe hypokalaemia (serum potassium: 1...
October 2023: Curēus
https://read.qxmd.com/read/37908931/thyrotoxic-periodic-paralysis-as-an-ongoing-diagnostic-challenge-a-case-report-and-literature-review
#17
Shourya Tadisina, Reda Asad, Aishwarya Varakantam, Lamont Weide, Betty Drees
Thyrotoxic periodic paralysis (TPP) is a rare condition that presents with episodic periodic paralysis due to hypokalemia that develops from hyperthyroidism. Timely diagnosis is still an ongoing challenge due to lack of awareness, self-resolving episodes, and the fact that it clinically mimics familial hypokalemic periodic paralysis (FHPP), which is more common in the West. TPP is more commonly seen among Asians but has been emerging in Western countries due to globalization. We present a case of a 24-year-old Hispanic male who presented with bilateral lower extremity weakness...
September 2023: Curēus
https://read.qxmd.com/read/37900493/gitelman-syndrome-manifesting-with-acute-hypokalemic-paralysis-a-case-report
#18
Rahul Gunde, Jayashankar Ca, Nuthan Bhat, Vivek Bhat, Suresha Kodapala
Gitelman syndrome (GS) is a rare renal tubulopathy, classically characterized by renal salt wasting and metabolic alkalosis. It is usually an incidental diagnosis, being asymptomatic or with mild symptoms. GS manifesting with acute flaccid paralysis is extremely uncommon. We report a case of GS that mimicked Guillain-Barré syndrome (GBS), manifesting with acute hypokalemic paralysis. A middle-aged male with no known comorbidities presented to our center with paresthesias of all four limbs for one month and progressive, asymmetric limb weakness over the past eight days...
September 2023: Curēus
https://read.qxmd.com/read/37875632/prevalence-and-risk-factors-of-low-vitamin-d-levels-in-children-and-adolescents-with-familial-hypokalemic-periodic-paralysis
#19
JOURNAL ARTICLE
Jae-Hoon Min, Ji Young Lee, Hye-Sung Ahn, Hui Song Cui, Cheong Hoon Seo, June-Bum Kim
UNLABELLED: Patients with familial hypokalemic periodic paralysis (HOKPP) experience episodes of reversible immobility and are at an increased risk of limited sunlight exposure, potentially leading to vitamin D deficiency. However, there is a lack of data on vitamin D levels in this population. We investigated serum vitamin D levels and their associated factors in children with HOKPP. This study included 170 genetically-confirmed children with HOKPP, aged 3-18 years, and 170 age-, sex-, and body mass index (BMI)-matched healthy controls from the Korean Channelopathy Study, a prospective controlled investigation...
October 25, 2023: European Journal of Pediatrics
https://read.qxmd.com/read/37842502/central-pontine-myelinolysis-and-hypokalemic-paralysis-as-presenting-manifestations-of-sjogren-s-syndrome
#20
Ashraf V V, Sajith Narayanan, Remesh Bhasi, Ramakrishnan Kg
Neurological involvement in Sjogren's syndrome can have varied manifestations and can precede the classical sicca symptoms of Sjogren's syndrome. A 32-year-old woman presented with acute quadriparesis and dysarthria. She had severe hypokalemia, and an MRI of the brain showed a lesion in the central pons that was hyperintense on T2 and fluid-attenuated inversion recovery (FLAIR) sequences sparing the periphery, a trident appearance characteristic of central pontine myelinolysis (CPM). On further evaluation, she was found to have distal renal tubular acidosis (dRTA) due to primary Sjogren's syndrome...
September 2023: Curēus
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