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.

Thyrotoxic periodic paralysis: an overview

Thyrotoxic periodic paralysis [TPP] is a fairly common manifestation of hyperthyroidism in Asian populations, with an incidence of about 1.9% in thyrotoxic patients, but it is rarely diagnosed among Caucasians and blacks in the Western world. The diagnosis often can be made on the basis of the clinical manifestations alone. Sometimes, periodic paralysis precedes hyperthyroidism or occurs in silent hyperthyroidism. As a result, physicians may easily overlook it even when life-threatening hypokalemia is present. The pathophysiology of this disorder is still not well understood. Correction of the thyrotoxic state is the definitive treatment. Potassium supplementation, propranolol, and spironolactone may be helpful both in the acute state and in preventing attacks

Parálisis periódica tirotóxica hipocalémica / Periodical paralysis hipokalemic thyrotoxic

Paciente varón de 27 años de ascedencia oriental, con historia de 6 meses de tirotoxicosis, quien presentó cuadriplejia flácida (tuvo dos episodios anteriores de menor intensidad), afectando severamente las extremidades inferiores a nivel de los músculos proximales. Durante el ataque agudo el nivel de potasio sérico estaba en 153m Eq/L, la monitorización cardíaca demostró trastornos del ritmo y bloqueo AV completo. La corrección del estado hipocalémico permitió recuperar la fuerza muscular y revertir las alteraciones electrocardiográficas. La parálisis periódica tirotóxica hipocalémica es un desorden neuromuscular caracterizado por ataques de debilidad muscular. Se ha postulado que la hipersensibilidad de algunos sujetos al incremento de las hormonas tiroideas podría aumentar la actividad de la ATPasas Na+/K+, disminuyendo el potasio, lo que reduciría la respuesta muscular al estímulo nervioso.

Paralisia periódica: análise clínica de 20 pacientes / Periodic paralysis: clinical analysis in 20 patients

Este estudo consiste da avaliaçäo de 20 pacientes com diagnóstico de paralisia periódica (PP) sendo descritos aspectos epidemiológicos, manifestaçöes clínicas, exames subsidiário, tratamento e evoluçäo. Dezesseis pacientes tinham a forma hipocalêmica (5 familiares, 5 esporádicos, 5 tireotóxicas e 1 secundária). Näo houve casos de PP normocalêmica. Houve predomínio do sexo masculino (14 pacientes). Todos os 5 pacientes com forma tireotóxica eram do sexo masculino e nenhum deles tinha origem oriental. Somente 4 pacientes tinham a forma hipercalêmica (3 familiares, 1 esporádico). Nas duas formas os ataques ocorreram preferencialmente no período da manhä sendo o repouso após exercício o fator desencadeante mais importante. No entanto observamos que 75 por cento dos pacientes com a forma hipercalêmica referiram crises de curta duraçäo (< 12 horas). Crises mais prolongadas foram referidas por 43 por cento dos pacientes com a forma hipocalêmica. A maioria das crises caracterizava-se por fraqueza generalizada, predominando nos membros inferiores e sendo sua frequência variável. A creatinoquinase foi avaliada em 10 pacientes e 8 tinham níveis elevados que variaram de 1,1 a 5 vezes o valor normal. A eletroneuromiografia foi realizada em 6, mas o fenômeno miotônico foi a única alteraçäo encontrada em 2 pacientes. Inibidores da anidrase carbônica, principalmente a acetazolamida, usados no tratamento profilático em 9 pacientes mostraram uma boa resposta em todos. Embora a PP seja algumas vezes considerada doença benigna, encontramos sintomas respiratórios em 5 pacientes, miopatia permanente em 1, alteraçöes eletrocardiográficas durante crise em 4; óbito durante paralisia ocorreu em 2 pacientes. Assim, o correto diagnóstico e o tratamento imediato säo cruciais. Este estudo mostra que o hipertireoidismo é importante causa de PP em nosso meio, mesmo em pacientes näo orientais. Assim, a investigaçäo endócrina é mandatória já que as crises de paralisia só desaparecem após a normalizaçäo dos níveis hormonais

Parálisis periódica hipokalémica primaria: presentación de 18 casos / Primary hypokalemic periodic paralysis:presentation of 18 cases

me informan las características de 18 pacientes, 16 varones con parálisis periódica hipokalémica primaria (PPH), que se catalogaron como variedad familiar, tirotóxica y esporádica. La edad de inicio varió de 6 a 42 años, y las manifestaciones clínicas fueron episodios de paraparesia, paraplejía y cuadriplejía; los pacientes con la variedad familiar iniciaron su sintomatología a una edad más temprana (p < 0.05). Los cuadros más graves fueron de la variedad esporádica, si bien la duración de la parálisis fue menor (p < 0.05). La concentración de potasio del suero a su ingreso fue de 1.5 a 3.3 mEq/L; no se encontró correlación entre los niveles de potasio y la gravedad de la parálisis. En cinco de los pacientes se provocó parálisis hipokalémica con la infusión de glucosa e insulina. Se manejaron con suplementos de potasio y amiloride, con lo que se evitaron recaídas. La PPH no es excepcional en nuestro medio y debe tenerse presente en el diagnóstico diferencial de paraparesias o cuadriperesias agudas

Thyrotoxic periodic paralysis in a Jamaican male patient

A case of thyrotoxic periodic paralysis occurring in a Black Jamaican male patient is described. Diagnosis is based on history and confirmed by evaluation of serum electrolyte during attacks and thyroid function studies. The physiopathology, associations, therapy and prognosis are discussed. It is important that clinicians recognise the condition as all forms of periodic paralysis are amenable to treatment, and progressive weakness can be prevented or even reversed.

Paralisis periodica paramiotonica: estudio de una familia colombiana / Paramyotonic periodic paralysis: study of a Colombian family

Se informa sobre doce miembros de una familia colombiana con esta rara enfermedad.El objeto es un paciente de 19 anos, quien presentaba debilidad muscular generalizada luego de exposicion al frio y a ejercicio intenso. Ocho miembros de la familia fueron estudiados directamente por el autor.Las caracteristicas clinicas fueron fascies inexpresiva, hipertrofia gemelar, debilidad muscular proximal, rigidez de las manos luego de exposicion al agua fria y paralisis generalizada con o sin exposicion al frio. Se describen asi mismo, las pruebas diagnosticas, la biopsia muscular y el tratamiento