Familial hypokalemic periodic paralysis in pregnancy: A case report.

Familial hypokalemic periodic paralysis (f-hypoPP) is a rare neuromuscular disorder causing intermittent muscle paralysis. Pregnancy can exacerbate f-hypoPP, yet obstetric management is not well documented. We present a case of a nulliparous woman with f-hypoPP, outlining a complete prenatal care plan generalizable to other women with known f-hypoPP. To our knowledge, this is the first obstetric f-hypoPP case to prioritize intrapartum oral potassium over intravenous potassium, as well as to outline the importance of multidisciplinary care. The patient had a spontaneous vaginal delivery at term with an uneventful postpartum period. Muscle weakness and episodes of relative hypokalemia in the second trimester and during labor were effectively treated with oral potassium supplementation. Care was provided by a multidisciplinary team, and caution was taken to avoid known triggers of paralytic episodes.

Review of the Diagnosis and Treatment of Periodic Paralysis.

Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis, hyperkalemic paralysis, and Andersen-Tawil syndrome. Common features of PP include autosomal dominant inheritance, onset typically in the first or second decades, episodic attacks of flaccid weakness, which are often triggered by diet or rest after exercise. Diagnosis is based on the characteristic clinic presentation then confirmed by genetic testing. In the absence of an identified genetic mutation, documented low or high potassium levels during attacks or a decrement on long exercise testing support diagnosis. The treatment approach should include both management of acute attacks and prevention of attacks. Treatments include behavioral interventions directed at avoidance of triggers, modification of potassium levels, diuretics, and carbonic anhydrase inhibitors. Muscle Nerve 57: 522-530, 2018.

Thyrotoxic Channelopathies.

Thyrotoxic periodic paralysis (TPP), a disorder most commonly seen in Asian men, is characterized by abrupt onset of hypokalemia and paralysis. The condition primarily affects the lower extremities and is secondary to thyrotoxicosis. Early recognition of TPP is vital to initiating appropriate treatment and to avoiding the risk of rebound hyperkalemia that may occur if high-dose potassium replacement is given. Here we present a case of 31 year old male with thyrotoxic periodic paralysis with diagnostic and therapeutic approach.

Rare disease centers for periodic paralysis: China versus the United States and United Kingdom.

INTRODUCTION: We have developed a rare disease center in China. METHODS: In this study we analyzed how patients with periodic paralysis accessed centers in China vs. in the USA and UK. RESULTS: A total of 116 patients with periodic paralysis were evaluated in Beijing and Hangzhou (2003-2012). These patients traveled long distances for outpatient specialist care without an appointment or physician referral. In contrast, at the University of Rochester in the USA, >90% of patients were referred from physicians throughout the country by identifying physician expertise or by referrals from a patient advocacy group. In the UK, a single center, supported by the National Health Service, provides assessment/genetic testing for all UK patients. CONCLUSIONS: Rare disease centers in China require: (1) establishing a center for clinical characterization of the disease (e.g., periodic paralysis); (2) establishing a genetic diagnostic platform; (3) placing the center at a major city hospital; and (4) facilitating patient access through internet websites.

Hypokalemic periodic paralysis in Sjogren's syndrome secondary to distal renal tubular acidosis.

We report a 53-year-old Turkish female presented with progressive weakness and mild dyspnea. Laboratory results demonstrated severe hypokalemia with hyperchloremic metabolic acidosis. The urinary anion gap was positive in the presence of acidemia, thus she was diagnosed with hypokalemic paralysis from a severe distal renal tubular acidosis (RTA). Immunologic work-up showed a strongly positive ANA of 1:3,200 and positive antibodies to SSA and SSB. Schirmer's test was abnormal. Autoimmune and other tests revealed Sjögren syndrome as the underlying cause of the distal renal tubular acidosis. Renal involvement in Sjogren's syndrome (SS) is not uncommon and may precede sicca complaints. The pathology in most cases is a tubulointerstitial nephritis causing among other things, distal RTA, and, rarely, hypokalemic paralysis. Treatment consists of potassium repletion, alkali therapy, and corticosteroids. Primary SS could be a differential in women with acute weakness and hypokalemia.

Sjogren's syndrome presenting with hypokalemic periodic paralysis.

We report a rare case of a 38-year-old female who presented with sudden onset flaccid quadriplegia and respiratory arrest with no significant past clinical history. She was later found to have hypokalemia due to distal renal tubular acidosis and further diagnosed as case of Sjogrens Syndrome.

[Pseudo-Conn's syndrome with hypokalemic paralysis due to diuretics and licorice abuse]. / Pseudo-Conn-Syndrom mit hypokaliämischer Lähmung bei Lakritzabusus und Diuretikatherapie.

Dyskalemic paralyses are characterised by single or periodic episodes with muscle weakness that affect mostly the proximal skeletal muscles. Symptoms may last for a few hours or persist for several days, spontaneous recovery is common. Familial cases can be distinguished from secondary, non-familial forms which are based on other diseases, for example, of the thyroid gland, kidneys or gastrointestinal tract. Familial cases are mostly inherited in an autosomal-dominant pattern and belong to the channelopathies. Both groups are characterised by changed potassium levels in the blood during an episode. A detailed and accurate medical history (plus family history, use of medication and eating habits) often easily leads to the diagnosis. Provoking tests or instrumental and histological investigations can help to solve difficult cases. Treatment focuses on relieving acute symptoms and attacks can be managed by correcting the blood potassium to a normal level. Changing eating and/or exercise habits and also permanent medical treatment helps to prevent further attacks.

Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?

Hypokalaemic periodic paralysis (hypoPP) is the archetypal skeletal muscle channelopathy caused by dysfunction of one of two sarcolemmal ion channels, either the sodium channel Nav1.4 or the calcium channel Cav1.1. Clinically, hypoPP is characterised by episodes of often severe flaccid muscle paralysis, in which the muscle fibre membrane becomes electrically inexcitable, and which may be precipitated by low serum potassium levels. Initial functional characterisation of hypoPP mutations failed to adequately explain the pathomechanism of the disease. Recently, as more pathogenic mutations involving loss of positive charge have been identified in the S4 segments of either channel, the hypothesis that an abnormal gating pore current may be important has emerged. Such an aberrant gating pore current has been identified in mutant Nav1.4 channels and has prompted potentially significant advances in this area. The carbonic anhydrase inhibitor acetazolamide has been used as a treatment for hypokalaemic periodic paralysis for over 40 years but its precise therapeutic mechanism of action is unclear. In this review we summarise the recent advances in the understanding of the molecular pathophysiology of hypoPP and consider how these may relate to the reported beneficial effects of acetazolamide. We also consider potential areas for future therapeutic development.

Hypokalemic paralysis following severe vomiting in a child with intestinal obstruction due to round worms.

Ascariasis is one of the most common helminthic infestations in humans. Massive infestation can give rise to serious complications such as intestinal obstruction. We present a 4-year-old boy, who presented with acute flaccid quadriparesis due to the hypokalemic alkalosis induced by severe vomiting. Severe vomiting was due to intestinal obstruction caused by round worms.

A rare case of cephalexin-induced acute interstitial nephritis with hypokalemic periodic paralysis.

Drug-induced acute interstitial nephritis (AIN) is often encountered in clinical practice. Cephalexin is a first-generation cephalosporin with antimicrobial sensitivity ranging from Gram-positive to Gram-negative organisms. Cephalexin-induced AIN presenting with hypokalemic periodic paralysis (HPP) has been rarely reported. A 34-year-old female with recent history of oral cephalexin intake presented with acute onset paraplegia with deranged renal parameters and hypokalemia. She was treated conservatively with mechanical ventilator support. HPP could be a rare clinical presentation for cephalexin-induced AIN.

[Hypokalemic paralysis during pregnancy: a report of two cases]. / Parálisis hipocalémica en el embarazo: reporte de dos casos.

The hypokalemic paralysis is a disease characterized by the development of acute muscular weakness, associated to low levels of blood potassium (< 3.5 meq/L). Here we present two cases: in the first one, a 23 years old woman, with 15.5 weeks of gestation has a cuadriplegia associated to blood potassium level of 1.4 meq/L, diagnosed with distal tubular acidosis; she required mechanical ventilation for respiratory paralysis. The medical profile remits with potassium intravenous replacement and the pregnancy ends with a spontaneous abortion. The second case is a 15 years old woman with 26.5 weeks of pregnancy, who suffers a generalized paralysis with blood potassium of 2.7 meq/L, requiring also mechanical ventilation for respiratory paralysis; the final diagnosis was Barterr syndrome, and the medical profile remited after potassium supplement. Her pregnancy got complicated with a severe preeclampsia, enough reason for interrumpting the pregnancy at 29.1 weeks of gestation. In both cases Guilliain-Barre syndrome was ruled out.

Practical aspects in the management of hypokalemic periodic paralysis.

Management considerations in hypokalemic periodic paralysis include accurate diagnosis, potassium dosage for acute attacks, choice of diuretic for prophylaxis, identification of triggers, creating a safe physical environment, peri-operative measures, and issues in pregnancy. A positive genetic test in the context of symptoms is the gold standard for diagnosis. Potassium chloride is the favored potassium salt given at 0.5-1.0 mEq/kg for acute attacks. The oral route is favored, but if necessary, a mannitol solvent can be used for intravenous administration. Avoidance of or potassium prophylaxis for common triggers, such as rest after exercise, high carbohydrate meals, and sodium, can prevent attacks. Chronically, acetazolamide, dichlorphenamide, or potassium-sparing diuretics decrease attack frequency and severity but are of little value acutely. Potassium, water, and a telephone should always be at a patient's bedside, regardless of the presence of weakness. Perioperatively, the patient's clinical status should be checked frequently. Firm data on the management of periodic paralysis during pregnancy is lacking. Patient support can be found at http://www.periodicparalysis.org.

Thyrotoxic periodic paralysis in pregnancy with impaired glucose tolerance: a case report and discussion of management issues.

CONTEXT: Thyrotoxic periodic paralysis (TPP) is an unusual presentation of hyperthyroidism in women. The occurrence of this condition in the context of pregnancy is even more uncommon. Impaired glucose tolerance, pregnancy, and TPP impact overall management of thyrotoxicosis. There is little guidance in the literature for management under this constellation of circumstances. PATIENT AND INTERVENTION: This is a case report of a previously healthy 36-year-old Filipino female presenting at 15 weeks gestation with tetraparesis, hypokalemia, and new onset Graves' disease with impaired glucose tolerance. Normal thyroid function was achieved in the mother without further episodes of TPP and a healthy, euthyroid male was delivered at 38 weeks gestation. Acute and long-term management strategies used in this case are described in detail. CONCLUSIONS: A synthesis of the available literature allowed development of a practical management strategy applicable to a variety of situations involving TPP in pregnancy.

[Hypokaliemic periodic paralysis and pregnancy: perinatal management. A case report]. / Paralysie périodique hypokaliémique et grossesse: prise en charge périnatale à propos d'un cas.

Familial hypokalemic periodic paralysis (FHPP) is a rare inherited disease characterized by a dysfunction of the membrane ion channels. Clinical manifestations are attacks of hypokaliemia with flaccid muscle paralysis. Paralysis is sometimes severe but always reversible with symptomatic treatment. Pregnancy and delivery have been reported to exacerbate FHPP. Authors report a case of FHPP during pregnancy with a favourable outcome. Vaginal delivery is usually possible with monitoring and epidural analgesia, avoiding active maternal expulsive efforts (passive descent of the fetus and elective outlet forceps) and other stimulating factors (carbohydrate loads, maternal stress, betamimetics, epinephrine...). Administration of IV potassium supplementation is often necessary.

Thyrotoxic periodic paralysis and anesthesia report of a case and literature review.

Thyrotoxic periodic paralysis (TPP) is a disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. The disease primarily affects people of Asian descent, but can affect other ethnic groups. In Asians, the symptoms of thyrotoxicosis are distinct and usually precede the first paralytic episode, whereas in non-Asian populations, paralysis is the presenting symptom. If TPP has not been diagnosed and the patient has a surgical procedure during general or regional anesthesia, symptoms of the disease may be confused with other adverse perioperative events such as delayed recovery from neuromuscular paralysis. No specific anesthetic regimen is superior. Current TTP treatment recommendations involve treating the underlying hyperthyroid state. Other modalities such as beta-blockade and potassium replacement are also important in the acute paralytic state. Future diagnostic and treatment innovations may lie in the genetic and molecular understanding of this disease. We present a case of an Asian male with known TPP undergoing general anesthesia, a brief case series involving 5 patients, and a review of the literature.

Thyrotoxic Periodic Paralysis: A Puzzling Case of Chest Pain and Weakness.

Thyrotoxic periodic paralysis is an uncommon thyroid emergency that is associated with electrolyte disturbances and a progressive flaccid paralysis of lower and upper extremities. Although not typically diagnosed within the emergency department setting, advanced practice registered nurses may be key in identifying this unusual condition where rapid and appropriate treatment precipitated by hyperthyroidism, most commonly resulting from Graves' disease can mitigate adverse cardiac, renal, and neurologic sequelae.

Hyperthyroidism · myalgia · rapidly progressing paralysis · Dx?

A 26-year-old Hispanic woman presented to the emergency department (ED) with myalgia and weakness. There were no prior symptoms and family history was negative for endocrinopathies. She was admitted and started on methimazole 10 mg twice a day for thyroid suppression and given propranolol 10 mg twice a day for anticipated hyperadrenergic adverse effects. The remainder of her hospital stay was uneventful and she was discharged 6 days after admission. Soon after, an outpatient thyroid scan ordered by her primary care physician confirmed that the patient had Graves' disease.

Severe hypokalemia and thyrotoxic paralysis from painless thyroiditis complicated by life-threatening polymorphic ventricular tachycardia and rhabdomyolysis.

A 61-year-old man presented with lower extremity paralysis and severe hypokalemia. His thyroid function test showed thyrotoxicosis. Despite attempts to correct his hypokalemia, he developed pulseless polymorphic ventricular tachycardia two hours later. He was successfully resuscitated after defibrillation. We performed continuous venovenous hemodiafiltration for 10 days due to acute kidney injury and rhabdomyolysis. We observed life-threatening polymorphic ventricular tachycardia requiring urgent defibrillation, as well as rhabdomyolysis requiring dialysis during the transient thyrotoxic phase of painless thyroiditis. Pay attention to the possibility of the development of life-threatening ventricular tachycardia associated with hypokalemia in the setting of thyroiditis and thyrotoxic paralysis.