Thyrotoxic periodic paralysis presenting with quadriparesis and hyperreflexia.

Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism that manifests as painless flaccid paralysis. An East Asian man in his late 20s presented to the emergency department with an acute onset of quadriparesis associated with hypertonia and hyperreflexia. His initial symptoms and signs suggested involvement of the brain and spinal cord; however, MRI of the neuroaxis was normal. His serum potassium concentration was low, and thyroid test results were consistent with hyperthyroidism. The patient was diagnosed with TPP associated with Graves' disease and was treated with potassium supplementation, propranolol and methimazole. Motor strength improved to his baseline level of power; bulk was normal, and tone was increased. Although flaccid paralysis is a typical presentation of TPP, brisk reflexes and muscle spasticity cannot rule out this condition. This case highlights the importance of considering TPP as a possible diagnosis in patients presenting with acute quadriparesis.

Recurrent hypokalemic paralysis in hypothyroidism.

Hypothyroidism, a commonly encountered thyroid disorder, usually manifests with readily recognizable typical features. However, an unusual presentation of a classic thyroid disorder may hinder accurate diagnosis in certain instances. One such rare initial presentation of hypothyroidism is recurrent hypokalemic paralysis, and existing reports in the literature are sparse. It has been more commonly reported in thyrotoxicosis. We report the case details and clinical outcomes of two middle-aged individuals (a 34-year-old male and a 37-year-old female) with recurrent episodes of hypokalemic paralysis. Their clinical examination revealed pure motor hyporeflexia quadriparesis with hypotonia and diminished deep tendon reflexes without any autonomic dysfunction. They had no significant previous medical history. Biochemical findings revealed hypokalemia in both cases (1.4 and 1.9 mEq/L, respectively) with elevated levels of thyroid­stimulating hormone and thyroid­related antibodies in both individuals, thus, confirming the diagnosis of autoimmune hypothyroidism. Immediate treatment with intravenous and oral potassium correction helped in the recovery. Thyroxine supplementation was considered a follow-up treatment, and for a one-year follow-up period there were no complaints of limb weakness reported in both individual.

The role of nephrologists in management of hypokalemic periodic paralysis: a case report.

BACKGROUND: Hypokalemic periodic paralysis is a chronic condition characterized by sporadic attacks of weakness associated with acute hypokalemia. Attacks are typically associated with specific triggers, such as prolonged rest following exercise or consumption of a high-carbohydrate meal. Most commonly, this condition is caused by an autosomal dominant calcium channel mutation, and patients typically have an established family medical history of hypokalemic periodic paralysis. Long-term complications include the development of progressive proximal myopathy. Oral potassium chloride may be considered for the treatment of an acute attack, with administration of acetazolamide or dichlorphenamide as long-term prophylaxis. Nephrologists can play an important role in the recognition and treatment of previously undiagnosed hypokalemic periodic paralysis. CASE PRESENTATION: We summarize the case of a 19-year-old white man who presented to the emergency department with undiagnosed attacks of hypokalemic periodic paralysis, and who reported, at follow-up, improvement in the severity and frequency of attacks with dichlorphenamide. CONCLUSIONS: This case demonstrates the crucial role nephrologists can play, not only in the diagnosis of hypokalemic periodic paralysis, but also in the ongoing management of this condition. Patients should be advised to regularly follow up with their nephrology team for evaluation due to the risk of developing myopathy.

Thyrotoxic periodic paralysis (TPP): assessment in the emergency department.

A male patient aged in his early twenties presented to the emergency department (ED) with quadriparesis. He was ordinarily fit and well and had exercised and eaten a carbohydrate rich meal the evening before. His point-of-care venous blood sample on arrival to the ED showed hypokalaemia of 1.6 mmol/L. (normal range=3.5-5.0 mmol/L). He was put on a cardiac monitor and started on an intravenous infusion of potassium chloride. With the benefit of hindsight, his male sex, particular features in his history and his initial ECG all pointed to a differential diagnosis of thyrotoxic periodic paralysis (TPP), although a differential diagnosis of a first attack of familial hypokalaemic paralysis was considered. As urgent thyroid function tests were sent promptly, there was minimal delay in reaching a diagnosis of TPP and promptly starting propranolol as a safe and more effective means of reversing TPP, followed by definitive treatment with carbimazole.

Refractory familial hypokalaemic periodic paralysis leading to cardiovascular compromise.

Familial hypokalaemic periodic paralysis (FHPP) is a rare neuromuscular disorder that is classified under periodic paralysis (PP), which is characterised by episodes of muscle weakness. Common triggers include intense exercise, fasting or consumption of carbohydrate-rich meals. Hypokalaemic PP has an incidence of 1 in 100 000; despite the temporal association, cardiac manifestations are exceedingly rare. We present a case of FHPP, a channelopathy presenting with severe refractory hypokalaemia. The challenges with our patient were maintaining potassium levels within normal ranges and initiating a close follow-up plan. Due to the lack of clinical guidance in our case, many aspects of care, including surveillance, medications and genetic testing, remain unaddressed. Medical management includes aggressive correction with supplements, potassium-sparing diuretics and carbonic anhydrase inhibitors. Severe cases of dysrhythmias, especially ventricular fibrillation, require electrophysiology evaluation and possible implantation of a defibrillator to prevent sudden cardiac death.

Thyrotoxic periodic paralysis in two sexagenarian men: A case report.

RATIONALE: Thyrotoxic periodic paralysis (TPP) characterized by the triad of muscle paralysis, acute hypokalemia, and the presence of hyperthyroidism is often reported in young adults but rarely reported in age >60 year-old. PATIENT CONCERNS: Two sexagenarian males (age 61 and 62) presenting to the emergency department with progressive muscle paralysis for hours. There was symmetrical flaccid paralysis with areflexia of lower extremities. Both of them did not have the obvious precipitating factors and take any drugs. DIAGNOSIS: Their Wayne scores, as an objective index of symptoms and signs associated with thyrotoxicosis, were <19 (7 and 14, respectively). Their blood pressure stood 162/78 and 170/82 mm Hg, respectively. Their thyroid glands were slightly enlarged. Both of them had severe hypokalemia (1.8 and 2.0 mmol/L). Their presumptive diagnosis of mineralocorticoid excess disorders with severe potassium (K+) deficit were made. However, low urine K+ excretion and relatively normal blood acid-base status were suggestive of an intracellular shift of K+ rather than K+ deficit. Hormone studies confirmed hyperthyroidism due to Graves disease. INTERVENTIONS: A smaller dose of K+ supplementation (only a total of 50 and 70 mmol K+, respectively) were prescribed for the patient. OUTCOMES: After treatment, their serum K+ levels became normal with a full recovery of muscle strength. LESSONS: Our 2 cases highlight the fact that thyrotoxic periodic paralysis must be still kept in mind as the underlying cause of hypokalemia with paralysis and hypertension in elderly patients to avoid missing curable disorders.

Hypokalaemic periodic paralysis secondary to subclinical hyperthyroidism: an uncommon cause of acute muscle paralysis.

Hypokalaemic periodic paralysis secondary to subclinical hyperthyroidism is an uncommon clinical phenomenon characterised by lower limb paralysis secondary to hypokalaemia in the background of subclinical hyperthyroidism. In this article, we report a patient who presented with progressive lower limb muscle weakness secondary to hypokalaemia that was refractory to potassium replacement therapy. He has no diarrhoea, no reduced appetite and was not taking any medication that can cause potassium wasting. Although he was clinically euthyroid, his thyroid function test revealed subclinical hyperthyroidism. His 24-hour urine potassium level was normal, which makes a rapid transcellular shift of potassium secondary to subclinical hyperthyroidism as the possible cause. He was successfully treated with potassium supplements, non-selective beta-blockers and anti-thyroid medication. This case report aimed to share an uncommon case of hypokalaemic periodic paralysis secondary to subclinical hyperthyroidism, which to our knowledge, only a few has been reported in the literature.

Anaesthesia challenges of a parturient with paramyotonia congenita and terminal filum lipoma presenting for labour and caesarean section under epidural anaesthesia - a case report.

BACKGROUND: Paramyotonia congenita is a rare autosomal dominant myopathy which presents with periodic weakness due to cold and exercise. It is caused by mutations of the SCN4 gene which encodes the sodium channel in skeletal muscles. CASE PRESENTATION: We report a full term obstetric patient with both paramyotonia congenita and terminal filum lipoma who presents for induction of labour followed by an emergency caesarean section performed under epidural anesthesia. Her recovery is subsequently complicated by a 3-day history of postpartum paraparesis attributed to hypokalemic periodic paralysis. CONCLUSION: We describe the perioperative anesthesia considerations and challenges in this case with a review of the current literature. This case report highlights the importance of early proactive and collaborative multidisciplinary approach, maintaining normal temperature and electrolytes with a heightened vigilance for muscle-related perioperative complications.

Glucocorticoid-Induced Hypokalemic Periodic Paralysis after Short-Term Use of Tenofovir with Hypophosphatemia: A Case Report.

Hypokalemic periodic paralysis (HPP) is a neuromuscular disorder associated with muscular dysfunction caused by hypokalemia. There are various causes of HPPs and rarely, HPP appears to be relevant to tenofovir or glucocorticoid treatment. There have been several case reports of tenofovir-related nephrotoxicity or tenofovir-induced HPP. However, a case report of glucocorticoid-induced HPP in a patient using tenofovir temporarily has not been reported. Herein, we report a case of glucocorticoid-induced HPP with short-term use of tenofovir. A 28-year-old man visited the emergency room with decreased muscle power in all extremities (2/5 grade). In their past medical history, the patient was treated with tenofovir for two months for a hepatitis B virus infection. At the time of the visit, the drug had been discontinued for four months. The day before visiting the emergency room, betamethasone was administered at a local clinic for herpes on the lips. Laboratory tests showed hypokalemia, hypophosphatemia, and mild metabolic acidosis. However, urinalysis revealed no abnormal findings. Consequently, it can be postulated that this patient developed HPP by glucocorticoids after taking tenofovir temporarily. This is the first case report of glucocorticoid-induced HPP in a patient using tenofovir. Clinicians who prescribe tenofovir should be aware of HPP occurring when glucocorticoids are used.

Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

BACKGROUND: Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM), periodic paralyses (PP), congenital myasthenic syndrome, and recently identified congenital myopathies. The treatment of these diseases is mainly symptomatic, aimed at reducing muscle excitability in NDM or modifying triggers of attacks in PP. OBJECTIVE: This systematic review collected the evidences regarding effects of pharmacological treatment on muscle ion channelopathies, focusing on the possible link between treatments and genetic background. METHODS: We searched databases for randomized clinical trials (RCT) and other human studies reporting pharmacological treatments. Preclinical studies were considered to gain further information regarding mutation-dependent drug effects. All steps were performed by two independent investigators, while two others critically reviewed the entire process. RESULTS: For NMD, RCT showed therapeutic benefits of mexiletine and lamotrigine, while other human studies suggest some efficacy of various sodium channel blockers and of the carbonic anhydrase inhibitor (CAI) acetazolamide. Preclinical studies suggest that mutations may alter sensitivity of the channel to sodium channel blockers in vitro, which has been translated to humans in some cases. For hyperkalemic and hypokalemic PP, RCT showed efficacy of the CAI dichlorphenamide in preventing paralysis. However, hypokalemic PP patients carrying sodium channel mutations may have fewer benefits from CAI compared to those carrying calcium channel mutations. Few data are available for treatment of congenital myopathies. CONCLUSIONS: These studies provided limited information about the response to treatments of individual mutations or groups of mutations. A major effort is needed to perform human studies for designing a mutation-driven precision medicine in muscle ion channelopathies.

[Hypokalemic periodic paralysis: a systematic review of published case reports]. / Parálisis periódica hipocaliémica: revisión sistemática de casos publicados.

INTRODUCTION: Hypokalemic periodic paralysis is a neuromuscular disease characterized by a combination of flaccid paralysis episodes (or muscular weakness) that are related to low levels of potassium in blood. As a consequence of its low prevalence, there are still clinical and management aspects to characterize. PATIENTS AND METHODS: A systematic review of the clinical cases published in the last decade has been developed by analyzing demographic and genetic features, the episodes' characteristics, the received treatments, the response to them and also, the differences and evolution of patients depending on the most prevalent genetic alterations: CACNA1S and SCN4A. RESULTS: A total of 33 articles were included, allowing 40 individuals to be reviewed. The average age of onset of symptoms was 15.3 ± 9.7 years. The most frequent altered gene was CACNA1S in 20 (60.5%) cases. It was observed that subjects presenting an alteration of the gene responsible for the calcium channel, CACNA1S, presented lower serum potassium levels, own triggers and a higher proportion of subjects showing dyspnea during the crisis. Only 50% of the subjects respond to classical oral treatment with acetazolamide. Potassium-sparing diuretics and antiepileptics drugs emerge as an alternative. CONCLUSION: Hypokalemic periodic paralysis has an heterogeneous clinical expression with phenotypic differences linked to different genetic mutations. The common preventive treatment response is suboptimal. Prospective studies are needed to discern the best therapeutic option based on genetic load.

TITLE: Parálisis periódica hipocaliémica: revisión sistemática de casos publicados.Introducción. La parálisis periódica hipocaliémica es una enfermedad neuromuscular hereditaria que se caracteriza por presentar episodios de parálisis flácida o debilidad muscular relacionados con niveles bajos de potasio en sangre. Como consecuencia de su baja prevalencia, todavía hay aspectos clínicos y de manejo por caracterizar. Pacientes y métodos. Se desarrolla una revisión sistemática de los casos clínicos publicados en la última década, analizando las características demográficas y genéticas, las características de los episodios, los tratamientos recibidos y su respuesta, y las diferencias y evolución de los pacientes en función de las mutaciones de los genes más prevalentes: CACNA1S y SCN4A. Resultados. Se incluyeron 33 artículos, que permitieron revisar a 40 sujetos. La edad media del inicio de los síntomas fue de 15,3 ± 9,7 años. El gen alterado con mayor frecuencia fue CACNA1S en 20 (60,5%) casos. Se observó que los sujetos con alteración del gen del canal de calcio CACNA1S presentaron niveles de potasio sérico inferiores, factores desencadenantes propios y una mayor proporción de sujetos con disnea en las crisis. La respuesta al tratamiento oral clásico con acetazolamida sólo alcanzó el 50%. Los diuréticos ahorradores de potasio y los fármacos antiepilépticos emergieron como una alternativa. Conclusiones. La parálisis periódica hipocaliémica tiene una expresión clínica heterogénea con diferencias fenotípicas ligadas a las diferentes mutaciones genéticas. La respuesta al tratamiento preventivo habitual es subóptima. Son necesarios estudios prospectivos para poder discernir la mejor opción terapéutica en función de la carga genética.

Reconhecimento da paralisia periódica hipocalêmica tireotóxica na emergência: relato de caso e revisão da literatura / Recognizing thyrotoxic hypokalemic periodic paralysis on emergency settings: a case report and literature revie

A paralisia periódica hipocalêmica tireotóxica é uma complicação inusitada do hipertireoidismo, porém é considerada urgência endocrinológica e ainda frequentemente subdiagnosticada. Sua apresentação clínica consiste na tríade de défice de potássio, tireotoxicose e fraqueza muscular ­ sendo esse último sintoma comum em diversas patologias. Realizamos uma revisão bibliográfica e destacamos, por meio do relato de caso, a importância do diagnóstico precoce dessa doença, possibilitando uma evolução favorável ao paciente, independente de sua etnia, sexo ou região geográfica. Atentamos ainda ao tratamento da doença, que, apesar de sua simplicidade, acarreta muitos equívocos.

The thyrotoxic hypokalemic periodic paralysis is a rare complication of hyperthyroidism, but is considered an endocrinological urgency, and yet frequently underdiagnosed. Its clinical presentation consists of potassium deficit, thyrotoxicosis, and muscular weakness, with the latter symptom being very common in several pathologies. We performed a bibliographic review and highlight, through a case report, the importance of the early diagnosis of this disease to allow favorable progression to the patient, regardless of ethnicity, sex, or geographical region. We also reinforce the importance of the disease treatment which, despite its simplicity, leads to many mistakes.

[Thyrotoxic hypokalemic periodic paralysis in two African black women]. / Paralysie périodique hypokaliémique thyrotoxique chez deux femmes noires africaines.

Thyrotoxic hypokalemic periodic paralysis is a rare complication of hyperthyroidism. It has been most often reported in Asian subjects while it has been little described in the black population. Its mechanism has been little elucidated, but it would be caused by hyperactivity of the Na+/K+pump. We here report two cases of thyrotoxic hypokalemic periodic paralysis in black African subjects. The clinical manifestation was identical in both patients: proximal muscle paralysis of the lower limbs. Paralysis was associated with severe hypokalemia and occurred in female patients treated for Graves' disease without any other associated disease. Outcome was immediately favorable under potassium supplementation. Treatment of hyperthyroidism prevented recurrences. This study highlights the importance of suspecting the diagnosis of thyrotoxic hypokalemic periodic paralysis despite its rarity in the black African population.

[Hypokalemic Paresis in Adolescent: A Case Report]. / Parésia Hipocaliemica em Adolescente: Um Caso Clínico.

Familial hypokalaemic periodic paralysis is a rare autosomal dominant neuromuscular disease characterized by episodic attacks of flaccid paralysis with concomitant hypokalaemia. We present a case of a 15-year-old male adolescent observed in the pediatric emergency department by flaccid paresis of the 4 limbs of sudden onset and progressive worsening. In the anamnesis, corticosteroid and antihistamine intake were observed on the previous day for urticaria and family history of transient episodes of flaccid paralysis in adolescence, asymptomatic after the fourth decade of life, without an established diagnosis. Diagnostic tests revealed hypokalaemia (K + < 2.4 mEq/L), without hypokaluria and without other changes. Symptomatology resolution after supplementation with potassium was verified until normalization of kaliemia. Flaccid paralysis is a rare form of presentation of hypokalaemia. Several etiologies may be involved in the child or adolescent presenting with acute flaccid paralysis. The description of this case draws attention to the importance of the knowledge of this entity, because if recognized and treated properly, patients usually recover without sequelae.

A paralisia periódica hipocaliémica familiar é uma doença neuromuscular autossómica dominante, rara, caracterizada por crises episódicas de paralisia flácida acompanhadas de hipocaliemia. Apresenta-se o caso de um adolescente do sexo masculino, com 15 anos de idade, observado no Serviço de Urgência de Pediatria por parésia flácida dos quatro membros de início subito e agravamento progressivo. Na anamnese verificou-se a ingestão de corticoesteroide e antihistaminico no dia anterior por urticária e história familiar de episódios transitórios de paralisia flácida na adolescência, assintomáticos após a 4ª década de vida, sem diagnóstico estabelecido. Os exames auxiliares de diagnóstico revelaram hipocaliemia (K+ < 2,4 mEq/L), sem hipocaliúria e sem outras alterações. Verificou-seresolução da sintomatologia após suplementação com potássio até normalização da caliemia. A paralisia flácida é uma forma rara de apresentação da hipocaliemia. Diversas etiologias podem estar envolvidas na criança ou adolescente que se apresenta com com paralisia flácida de início agudo. Com a descrição deste caso alerta-se para a importância do conhecimento desta entidade, porque se reconhecidos e tratados apropriadamente, os doentes geralmente recuperam sem sequelas.

Thyrotoxic periodic paralysis with ventricular tachycardia.

A 47-year-old man presented to our emergency department (ED) with limbs weakness for 2 h. His heart rate was 127 beats per minute and blood pressure was 95/49 mm Hg. He found weakness of limbs after 4-h sleep. Physical examinations revealed that the muscle strength of upper limbs is 3/5, and lower limbs are 2/5. Electrocardiogram (ECG) revealed wide QRS complex, monomorphic ventricular tachycardia (VT) with ST-segment depression and long QT interval. Serum potassium level was extremely low as 1.0 mEq/L. This led to periodic hypokalemic paralysis. Due to severe hypokalemia with possible atrioventricular block, the patient was admitted to the intensive care unit. During hospitalization, his potassium level returned to 5.1 mEq/L on the first day. He had a low level of thyroid stimulating hormone (TSH) of <0.03 micro-IU/mL (normal range: 0.25-4.00) and a high free thyroxine (T4) level of 2.43 ng/dL (normal range: 0.89-1.79 ng/dL). Therefore, hyperthyroidism was diagnosed, and 5 mg of methimazole was administered twice a day. The patient was discharged on the seventh day after admission. The final diagnosis is thyrotoxic periodic paralysis (TPP), also as known as nocturnal paralysis or night palsy.

Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G).

We report a young wheelchair-dependent patient with an unclear proximal myopathy and a heterozygous, de-novo Cav1.1-R1239G mutation suggesting hypokalemic periodic paralysis (HypoPP). Sonography showed a loss of the pennate pattern indicative of an edema, whereas fatty degeneration was excluded. Within 7 days of therapy with spironolactone, potassium and physical therapy, muscle strength almost completely normalized, a normal pennate pattern appeared and the edema was markedly reduced. She learned to walk without aid and to do sports and has continued to do so for 11 years until now. Over the years, we tested serum potassium values, muscle strength, muscle edema and muscular sodium content by 1.5 T, 3 T and 7 T 1H and 23Na magnetic resonance imaging. No fatty muscle degeneration developed. Muscular edema-like changes only occurred when she was pregnant and was set to reduced therapy. Because of the ability to do sports again, her mobility was further increased. Our observational study on this single patient may suggest that: (1) muscle imaging and molecular genetics are important diagnostic tools, (2) weakness in periodic paralysis may be reversible, and (3) continued adequate therapy may preserve muscle structure and strength on a longterm, whereas weakness due to fatty degeneration could be considered progressive and irreversible. Although HypoPP is a rare disease, it should be included in differential diagnosis not only if there is paroxysmal weakness, but also in cases of myopathy of unknown origin.