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.

Caso Clínico: Parálisis Periódica Hipopotasémica / Case Report: Hypokalemic Periodic Paralysis

INTRODUCCIÓN: La parálisis periódica hipopotasémica es una enfermedad poco frecuente. Se caracteriza por episodios de debilidad muscular o plejia, reversible con la normalización de los niveles de potasio. Al ser una entidad poco común, el reporte del presente caso será de utilidad para el diagnóstico diferencial de la debilidad muscular aguda. CASO CLÍNICO: Paciente masculino de 22 años de edad, que posterior a ejercicio físico extenuante e ingesta moderada de hidratos de carbono y alcohol, presenta debilidad muscular aguda de miembros superiores e inferiores. EVOLUCIÓN: Al ingreso se realizó el diagnóstico de polirradiculoneuropatía desmielinizante aguda, administrándose una dosis de inmunoglobulina humana. Sin embargo, una vez obtenidos los resultados de laboratorio, se evidenció un potasio sérico de 2.4 mEq/L. Se inició la reposición con cloruro potásico en infusión. El paciente fue valorado por neurología y genética, con base en la anamnesis, examen físico, laboratorios y cuadro clínico del paciente, se realizó el diagnóstico de parálisis periódica hipopotasémica. Paciente presentó una evolución favorable, recibiendo el alta al cuarto día de hospitalización. CONCLUSIONES: La parálisis periódica hipopotasémica es una entidad poco frecuente, raramente incluida en el diagnóstico diferencial de la debilidad muscular aguda. La identificación oportuna y la consejería apropiada son esenciales para la prevención de complicaciones potencialmente mortales para el paciente.

BACKGROUND: Hypokalemic periodic paralysis is a rare disease, characterized by episodes of limb muscle weakness, reversible with the normalization of potassium levels. Being a rare entity, this report will be useful for the differential diagnosis of acute muscle weakness. CASE REPORT: A 22-year-old male patient, who after strenuous physical activity and a moderate intake of carbohydrates and alcohol, presented acute muscle weakness of the upper and lower limbs. EVOLUTION: On admission, the patient was diagnosed of acute demyelinating polyradiculoneuropathy, administering a dose of human immunoglobulin. However, once the laboratory results were available, a serum potassium of 2.4 mEq/L was evidenced. The replacement was started with potassium chloride in infusion. The patient was evaluated by neurology and genetics. Based on the anamnesis, physical examination, laboratories and clinical picture of the patient, the diagnosis of hypokalemic periodic paralysis was made. Patient presented a favorable evolution, receiving discharge on the fourth day of hospitalization. CONCLUSIONS: Hypokalemic periodic paralysis is an uncommon disease, rarely included in the differential diagnosis of acute muscle weakness. Timely identification and appropriate counseling are essential for the prevention of life-threatening complications.

Inusual forma de presentación de hipertiroidismo asociado a parálisis hipokalémica / An unusual presentation of hyperthyroidism associated with hypokalemic paralysis

La parálisis periódica hipokalémica tirotóxica (PPHT) constituye un raro trastorno caracterizado por debilidad muscular severa asociado a hipokalemia en pacientes hipertiroideos. Se reporta en este artículo un paciente masculino de 28 años de edad quien ingresó a un centro de salud de primer nivel, por debilidad muscular generalizada con subsecuente caída desde su altura sin pérdida de la conciencia. Es remitido posteriormente a un Hospital regional (en Colombia), en donde se identifica la presencia de bocio. Se solicitaron pruebas de función tiroidea y niveles de hormona estimulante de la tiroides (TSH) los cuales fueron anormales. Este caso clínico busca difundir el conocimiento de una patología considerada infrecuente en la región, con el fin de resaltar algunos aspectos clínicos y fisiopatológicos, destacando la importancia de tener presente el diagnostico de esta enfermedad y lograr hacer un manejo oportuno teniendo en cuenta sus complicaciones potencialmente fatales.

Hypokalemic thyrotoxic periodic paralysis is a rare disorder characterized by severe muscle weakness with low serum potassium levels in hyperthyroid patients. We describe a 28- years-old man who was admitted to a first level health center with a history of muscle weakness and a fall from his height without loss of consciousness. He was transferred to a regional Hospital (in Colombia) where, in a physical examination, was noticed an enlarged size of thyroid gland. Thyroid function tests and levels of thyroid stimulating hormone (TSH) were requested, which were abnormal. This case report attempts to spread the knowledge of a disease considered rare in the region, in order to highlight some clinical and pathophysiological aspects, the importance of always be considered in patients with this clinical presentation and making an appropriate treatment and diagnosis.

Paralisia periódica hipocalêmica tireotóxica: relato de caso / Thyrotoxic hypokalemic periodic paralysis: a case report

Relata-se neste artigo o caso de um paciente de ascendência negra com quadro agudo e progressivo de paralisia flácida ascendente, sem comprometimento de musculatura respiratória ou facial, em vigência de hipertireoidismo em tratamento e hipocalemia desencadeados por quadro infeccioso. Foi realizado o diagnóstico de paralisia periódica hipocalêmica tireotóxica e controle inicial dos sintomas por adequação sérica do potássio e posterior resolução do quadro após tratamento com iodoterapia.

It is reported in this paper the case of a black ancestry patient with acute and progressive framework ascending flaccid paralysis without impairment of respiratory and facial muscles, in effect in treatment of hyperthyroidism and hypokalemia triggered by infection. The diagnosis of thyrotoxic hypokalemic periodic paralysis was accomplished and initial symptoms were controlled for adequacy of serum potassium and subsequent resolution after treatment with radioiodine.

Paralisia periódica hipocalêmica tireotóxica em paciente de ascendência africana / Thyrotoxic hypokalemic periodic paralysis in patients of African descent

A paralisia periódica hipocalêmica tireotóxica (PPHT) é uma urgência endocrinológica caracterizada por ataques recorrentes de fraqueza muscular, associados à hipocalemia e à tireotoxicose. Essa patologia ocorre mais frequentemente em pacientes do sexo masculino, de origem asiática, sendo rara sua apresentação em pessoas de ascendência africana. O caso descrito mostra um paciente afrodescendente que apresentou tetraparesia associada à hipocalemia. Durante esse episódio foi realizado o diagnóstico de hipertireoidismo. A PPHT, embora rara, é potencialmente letal. Portanto, em casos de crises de paresias flácidas, essa hipótese diagnóstica deve ser sempre considerada, principalmente se associada à hipocalemia. Nessa situação, se não houver diagnóstico prévio de hipertireoidismo, este também deve ser considerado.

Thyrotoxic hypokalemic periodic paralysis (THPP) is an endocrine emergency marked by recurrent attacks of muscle weakness associated with hypokalemia and thyrotoxicosis. Asiatic male patients are most often affected. On the other hand, African descents rarely present this disease. The case described shows an afrodescendant patient with hypokalemia and tetraparesis, whose diagnosis of hyperthyroidism was considered during this crisis. The THPP, although rare, is potentially lethal. Therefore, in cases of flaccid paresis crisis this diagnosis should always be considered, especially if associated with hypokalemia. In this situation, if no previous diagnosis of hyperthyroidism, this should also be regarded.

Thyrotoxic Periodic Paralysis Associated with Transient Thyrotoxicosis Due to Painless Thyroiditis

Thyrotoxic periodic paralysis (TPP) is a rare manifestation of hyperthyroidism characterized by muscle weakness and hypokalemia. All ethnicities can be affected, but TPP typically presents in men of Asian descent. The most common cause of TPP in thyrotoxicosis is Graves' disease. However, TPP can occur with any form of thyrotoxicosis. Up to our knowledge, very few cases ever reported the relationship between TPP and painless thyroiditis. We herein report a 25-yr-old Korean man who suffered from flaccid paralysis of the lower extremities and numbness of hands. The patient was subsequently diagnosed as having TPP associated with transient thyrotoxicosis due to painless thyroiditis. The paralytic attack did not recur after improving the thyroid function. Therefore, it is necessary that early diagnosis of TPP due to transient thyrotoxicosis is made to administer definite treatment and prevent recurrent paralysis.

Parálisis periódica tirotóxica hipopotasémica / Hypokalemic thyrotoxic periodic paralisis

Paciente varón de 29 años, natural y procedente de Lima, mestizo, con historia de dos meses de presentar tres episodios de debilidad y dolor muscular proximal de extremidades, con inicio y predominio en muslos, que llega incluso a presentar cuadriplejia flácida, que afecta severamente las extremidades inferiores a nivel de los músculos proximales. Durante el último episodio, el nivel de potasio sérico fue 2.0 mEq/L, el electrocardiograma evidenció taquicardia leve y discreto aplanamiento de la onda T. La corrección de la hipopotasemia permitió recuperar la fuerza muscular, revertir el dolor y las alteraciones electrocardiográficas.

Male patient of 29 years old, southamerican origin, with history of two months of had presented a flaccid cuadriplejia (he had two previous episodes of less intensity), affecting severely the inferior extremities at the proximal muscle level. During the last acute attack the potassium level was in 2,0 mEq/L, the ECG showed mild tachycardia and T wave flattening. The correction of the hypokalemia allowed to recuperate the muscle strength and reverse the electrocardiographic alterations. Besides, it was shown a thyrotoxic state.

Parálisis periódica hipopotasémica tirotóxica: Caso clínico / Thyrotoxic hypokalemic periodic paralysis: Report of one case

Thyrotoxic hypokalemic periodic paralysis is characterized by attacks of generalized weakness associated to hypokalemia in patients with hyperthyroidism. We report a 25-year-old man with a history of spontaneously relapsing episodes of muscular weakness, who consulted for a rapidly evolving upper and lower limb paresis. Hypokalemia associated to a primary hyperthyroidism was detected. Treatment with antithyroid Drugs and potassium supplementation reverted symptoms and the episodes of acute muscular weakness did not reappear.

Paralisia periódica hipocalêmica esporádica / Sporadic hypokalemic periodic paralysis

Paralisia periódica hipocalêmica é um distúrbio genético muscular raro que afeta os canais iônicos. É potencialmente fatal se não diagnosticado e tratado adequadamente, e os sintomas inespecíficos dificultam o diagnóstico para médicos não familiarizados com essa condição. Este artigo apresenta um caso de paralisia periódica hipocalêmica primária em um paciente de 25 anos. A apresentação clínica, assim como a laboratorial, foram típicas. Com este relato enfatizamos a importância do conhecimento dessa entidade, porque, se reconhecidos e tratados propriadamente, os pacientes geralmente se recuperam sem sequelas clínicas

Hypokalemic periodic paralysis is a rare genetic disorder that affects muscle ion channels. It is a life-threatening condition if not diagnosed and treated properly, and its nonspecific symptoms make diagnosis difficult for physicians unfamiliar with this condition. This article reports a case of primary hypokalemic periodic paralysis in a 25-year-old patient. The clinical and laboratory parameters were typical. With this report we emphasize the importance of knowing this entity because, if recognized and treated appropriately, patients usually recover without clinical sequelae

Hypokalemic periodic paralysis as a manifestation of thyrotoxicosis.

OBJECTIVE: To study the clinical characteristics of patients who suffer from hypokalemic periodic paralysis, as the presenting symptoms of thyrotoxicosis. MATERIAL AND METHOD: A retrospective review of 29 patients who presented with the syndrome of hypokalemic periodic paralysis as the symptom of thyrotoxicosis at Ratchaburi Hospital between January 1,1995 and December 31, 2007. Patients'data, diagnosis, blood chemistry, and thyroid function test were collected from medical records. RESULTS: All patients exhibited muscle weakness for a duration of one to two days, while all patients with hypokalemic periodic paralysis were determined to have high serum thyroid hormone and diagnosed with thyrotoxicosis. Patients with hypokalemic periodic paralysis were the first symptom leading to diagnosis of thyrotoxicosis. The attack of weakness occurred during the night in all patients. The patients, 96.6% being male, showed improvement of their symptoms through potassium replacement and thyrotoxicosis treatment using propylthiouracil and non selective beta adrenergic blocker All patients recovered and did not demonstrate reoccurring hypokalemic periodic paralysis. The degree of muscle weakness was found to correlate significantly (p < 0.05) with level of serum potassium, magnesium, and duration of weakness. CONCLUSION: It is important to determine blood thyroid hormone in all patients with hypokalemic periodic paralysis.

Thyrotoxic periodic paralysis.

A young man of 30 yrs got himself admitted in Bangabandhu Sheikh Mujib Medical University (BSMMU) Hospital, Dhaka, Bangladesh with the complaints of suddenly developed weakness in his all four limbs. He had features of hyperthyroidism and he gave the history of similar attacks of weakness in his all four limbs in the previous months. His potassium was in the lower part of the normal range and his T4 and T3 were elevated but TSH was markedly low. He was diagnosed as a case of thyrotoxic periodic paralysis on the basis of clinical and biochemical findings. After treatment with carbimazole, propranolol and potassium replacement, patient's condition improved dramatically.

A case report of familial periodic paralysis.

A 20-year-old male was brought to the hospital with the complaints of severe weakness and inability to move the limbs of 12 hours duration. For the last 2 years he had the same episodes with spontaneous recovery. Family history strongly suggested involvement of other members of the family. Physical examination did not suggest any neurological deficit. All investigations were normal except serum potassium level being 2.2 meq/l during attack and 3.4 meq/l after the attack. He was treated with oral acetazolamide and potassium chloride. The case was diagnosed to be familial periodic paralysis belonged to the group 'episodic myasthenia'.

Aetiological, clinical and metabolic profile of hypokalaemic periodic paralysis in adults: a single-centre experience.

BACKGROUND: Hypokalaemic periodic paralysis constitutes a heterogeneous group of disorders that present with acute muscular weakness. In this analysis, we discuss the aetiological factors that appear to be more common in the Indian population. METHODS: From 1995 to 2001, 31 patients presented with periodic paralysis (mean age 34.5 years, range 11-68 years). Of the 31 patients, 19 were men. The clinical and laboratory data of these patients were analysed. Patients were investigated for possible secondary causes of hypokalaemla. RESULTS: There were 13 patients (42%) with renal tubular acidosis, 13 with primary hyperaldosteronism (42%), 2 each with thyrotoxic periodic paralysis and sporadic periodic paralysis, and I with Gitelman syndrome. Of the 13 patients with renal tubular acidosis, 10 had proximal and 3 distal renal tubular acidosis. Three of these patients with renal tubular acidosis had Sjogren syndrome. The patients diagnosed to have renal tubular acidosis had significantly lower serum bicarbonate (18.7 [14.6] v. 29.6 [5.0] mEq/L; p < 0.05) and higher levels of chloride (107.5 [6.0] v. 99.5 [3.4] mEq/L; p < 0.05) compared with those who had primary hyperaldosteronism, although the potassium values were similar (2.4 [0.65] v. 2.26 [0.48] mEq/L; p = 0.43). All patients with primary hyperaldosteronism had hypertension at presentation and were proven to have adrenal adenomas. CONCLUSION: A significant number of patients in this study had secondary and potentially reversible causes of hypokalaemic periodic paralysis. The common causes were renal tubular acidosis and primary hyperaldosteronism. A detailed work-up for secondary causes should be undertaken in Indian patients with hypokalaemic periodic paralysis.

A Korean Family of Hypokalemic Periodic Paralysis with Mutation in a Voltage-gated Calcium Channel (R1239G)

Hypokalemic periodic paralysis (HOPP) is a rare disease characterized by reversible attacks of muscle weakness accompanied by episodic hypokalemia. Recent molecular work has revealed that the majority of familial HOPP is due to mutations in a skeletal muscle voltage-dependent calcium-channel: the dihydropyridine receptor. We report a 13-yr old boy with HOPP from a family in which 6 members are affected in three generations. Genetic examination identified a nucleotide 3705 C to G mutation in exon 30 of the calcium channel gene, CACNA1S. This mutation predicts a codon change from arginine to glycine at the amino acid position #1239 (R1239G). Among the three known mutations of the CACNA1S gene, the R1239G mutation was rarely reported. This boy and the other family members who did not respond to acetazolamide, showed a marked improvement of the paralytic symptoms after spironolactone treatment.

Paralisia periódica hipocalêmica tireotóxica: relato de 3 casos / Hypocalemic periodic paralysis: report of 3 cases

Paralisia Periódica Hipocalêmica Tireotóxica (PPHT) é uma complicação rara do hipertireoidismo, mais freqüente em orientais que brancos. Apresentamos três pacientes do sexo masculino, brasileiros, cujas idades eram de 28 anos (caso 1), 29 anos (caso 2) e 60 anos (caso 3) com diagnóstico de PPHT. Foram admitidos com tetraparesia das extremidades, tendo o caso 1 relatado crises recorrentes de paralisia e os casos 2 e 3, apenas um episódio. No caso 1, estavam presentes sinais e sintomas de hipertireoidismo como emagrecimento, sudorese, tremor de extremidades, palpitação e bócio difuso discreto, enquanto no caso 2 manifestou-se apenas oftalmopatia, e o terceiro paciente referia diagnóstico de fibrilação atrial pregressa sem avaliação da função tireoidiana. Exames laboratoriais mostraram hipocalemia, TSH suprimido e T4 livre elevado em todos os pacientes. Foram tratados com potássio intravenoso, propranolol e tiamazol via oral, com remissão dos sintomas. O relato dos casos destaca a freqüente dificuldade diagnóstica desta enfermidade que apresenta evolução favorável quando diagnosticada e tratada adequadamente.

Paralisia periódica hipocalêmica tirotóxica, uma urgência endócrina: revisão do quadro clínico e genético de 25 pacientes / Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients

A paralisia periódica hipocalêmica tirotóxica (PPHT) é uma emergência médica caracterizada por ataques agudos de fraqueza muscular, hipocalemia e tirotoxicose, que desaparece com o tratamento do hipertiroidismo. As crises de paralisia são transitórias, auto-limitadas, associadas com hipocalemia e similares àquelas da paralisia periódica hipocalêmica familiar (PPHF), doença neurológica autossômica dominante. Este estudo descreve o quadro clínico e achados genéticos de 25 pacientes brasileiros com PPHT. A maioria dos pacientes apresentava perda de peso, taquicardia, bócio, tremores e oftalmopatia. Os ataques ocorreram, em sua maioria, durante a noite e tiveram recuperação espontânea, apesar de alguns pacientes evoluírem para quadriplegia e arritmias cardíacas. Todos apresentaram TSH suprimido e T4 elevado, e a maioria anticorpos positivos, indicando etiologia auto-imune. O potássio estava baixo em todos durante a crise. A terapêutica profilática com potássio não preveniu os ataques, mas foi útil para diminuir a força da paralisia durante as crises. Identificamos a mutação R83H no gene KCNE3 num caso esporádico e a mutação M58V no gene KCNE4 numa família com PPHT. Além disso, identificamos polimorfismos nos genes CACNA1S, SCN4A, KCNE1, KCNE2, KCNE1L, KCNJ2, KCNJ8 e KCNJ11. Concluímos que a PPHT é a causa mais comum tratável de paralisia periódica adquirida e deve ser lembrada em casos de fraqueza muscular em pacientes jovens.

Parálisis hipokalémica debida a acidosis tubular renal tipo I: caso clínico / Hipokalemic paralysis owing to aciclosis renal tubular type I: clinical case

Se presenta el caso de un paciente masculino de 28 años quien presentó cuadriplejia aguda con insuficiencia respiratoria que ingreso a cuidados intensivos ameritando ventilación mecánica y con un diagnóstico presuntivo de síndrome de Guillian-Barré Esto coincidió con severas alteraciones electrolíticas (hipokalemia e hipofosfatemia) y con persistencia de acidosis metabólica hiperclorémica por lo que se procedió a realizar pruebas diagnósticas que revelaron la presencia de una acidosis tubular renal distal. Su evolución fue satisfactoria. El caso constituye un ejemplo de una rara causa de parálisis que debe ser tomado en cuenta en los diagnósticos diferenciales de pacientes que presenten esta sitomatología.

Reporte de caso de parálisis hipocalémica periódica y propuesta de abordaje diagnóstico de la parálisis flácida aguda / Case report of hypocalemic periodic paralysis and proposal of diagnostic approach for the acute flacid paralysis

El diagnóstico etiológico y el manejo de la parálisis flácida aguda representan un reto frecuente para el clínico, quien debe considerar una amplia gama de causas que afectan la función neuromuscular. Se evaluó paciente femenina de 21 años sin antecedentes patológicos con cuadro agudo y rápidamente progresivo de parálisis flácida ascendente con compromiso respiratorio. Se consideró entre las etiologías el síndrome de Guillain-Barré y se solicitó electrolitos y estudio electrofisiológicos. Los estudios electrofisiológicos mostraron disminución de las velocidades y prolongación de las latencias de la conducción motora. El potasio sérico fue de 1.8 mEq/L al ingreso, la CPK fue de 2,277 U/L. La reposición intravenosa de potasio resultó en una rápida mejoría, con recuperación total de la fuerza en las primeras 12 horas de hospitalización. La paciente egresó totalmente recuperada y con pautas de seguimiento. El presente es un ejemplo de canalopatía tipo parálisis hipocalémica periódica con presentación clínica similar a la del síndrome de Guillain-Barré. Las canalopatías deben considerarse en el diagnóstico diferencial de las parálisis flácidas agudas. Se propone un algoritmo de diagnóstico y tratamiento para éstas