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.     

Mutation screening in Chinese hypokalemic periodic paralysis patients

Thyrotoxic periodic paralysis (TPP), familial periodic paralysis (FPP), and sporadic periodic paralysis (SPP) are the most common causes of hypokalemic periodic paralysis (hypoKPP). The patients present with similar clinical features characterized by episodic attacks of muscle weakness and a decrease in blood potassium. Mutations in the gene encoding the voltage-sensor coding regions of the skeletal muscle sodium channel gene (SCN4A) and the alpha-1 subunit of the skeletal muscle calcium channel gene were analyzed in 23 Chinese hypoKPP patients, including 1 FPP pedigree, 14 TPP patients, and 8 SPP patients. In addition, R83H mutation of the potassium channel subunit gene which was originally published as periodic paralysis mutation was also analyzed. A heterozygous CGT-TGT mutation at codon 672 in SCN4A gene was identified to segregate with the disease in the FPP family. Mutations in these regions were excluded in those patients with SPP and TPP. The results suggest that a likely genetic basis for FPP does not contribute to TPP and SPP, despite close similarities among FPP, TPP, and SPP.     

Thyrotoxic hypokalemic periodic paralysis in a Hispanic male

We report a case of a Hispanic male presenting with acute onset of bilateral lower extremity weakness, without any antecedent viral or bacterial illness, dietary changes, infiltrative orbitopathy, diffuse goiter, infiltrative dermopathy, and family history of periodic paralysis, who was later found to have Graves' disease. This demonstrates a rare case of periodic paralysis as the initial presentation of hyperthyroidism. Thyrotoxic hypokalemic periodic paralysis is common in Asian and Hispanic individuals and uncommon in whites and African Americans.     

131I治疗甲亢合并周期性麻痹疗效初步分析

评价131I治疗甲亢合并周期性麻痹(TPP)的疗效,对8例TPP患者用131I治疗,测定治疗前后血清指标.结果表明:血清钾降低,TT3、TT4、FT3、FT4均升高,131I治疗见效快,疗程短,治愈率高,治疗后6个月治愈率75%(6/8),12个月后治愈率100%(8/8),是TPP治疗的首选.     

The relationships between the single nueleotide polymorphisms of CACNA1S gene 11 exon and thyrotoxic hypokalemic periodic paralysis in the people of Han Nationality in Sichuan Province, China

The present research was aimed to investigate the relationships between the single nueleotide polymorphisms (SNPs) of CACNA1S gene 11 exon and thyrotoxic hypokalemic periodic paralysis (THPP)in the people of Han Nationality in Sichuan China. 100 male subjects were divided into four groups in this study, i.e., 22 patients with THPP, 23 patients with hypokalemic periodic paralysis (HPP), 33 patients with thyrotoxicosis but without hypokalemic periodic paralysis (NTHPP), and 22 healthy (control group) subjects. The sequences of the CACNA1S gene exon 11 polymorphisms, for the four groups respectively, were analysed by the SNPs method with polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA direct sequencing. A meta-analysis of three additional studies was also performed. Three SNPs of exon 11 of the CACNA1S gene (C1491T, T1551C, C1564T) were present in all the four groups. The polymorphisms C1491T and T1551C were present in both homozygotes and heterozygotes, while the C1564T polymorphism was present only in heterozygotes. The genotype frequencies of variants at C1491T and T1551C were not significantly associated with TPP (dominant model: P=0.530 and P=0.568; allele frequency model: P=0.563 and P=0.568). A Meta-analysis yielded combined odds ratio (OR) for TPP of 2. 12 (95% CI: 0.80-5.60) at C1491T, 2.90 (95% CI: 0.71-11.78) at T1551C, and 1.61 (95% CI: 0.36-7.26) at C1564T with the dominant model. These results suggested that three SNPs of CACNA1S gene exon 11 definitely could exist but could not be associated with TPP people of Han Nationality in Sichuan.     

Change in the ultrastructure of the muscles in thyrotoxic periodic paralysis]

The article presents data on the clinico-morphological study of three patients suffering from thyrotoxicosis with attacks of periodic paralysis. The muscles obtained by biopsy in two patients at the moment of attack and in one patient--in the absence of attack were investigated by the electron microscopy method. The data obtained make it possible to assume that in the thyrotoxic periodic paralysis the action of the thyroid hormones causes not only impairment of the mineral metabolism, but brings about changes in the structure of the membranes of the sarcolemma and T-system, which leads to disturbances of conductance of action potential into the fibre. These changes affect the function of the end cisterns and lead to distorsion of the processes of conjugation of excitation-contraction with resulting development of paresis and paralysis of muscles. Moreover, during the attack there take place secondary disturbances of carbohydrate metabolism, which aggravates the pathological process.     

Potential role of acute hypophosphatemia during hypokalemic periodic paralysis attack

A paralysis attack was induced by glucose load in a patient with hypokalemic periodic paralysis. A profound drop in serum phosphorus was observed (from 3.0 to 0.8 mg/dl) in parallel to the serum potassium decrease. The potential role of phosphorus metabolism in the pathophysiology of muscle weakness in this disease is discussed.     

Hyperkalemic periodic paralysis associated with multiple sleep onset REM periods

A 24-year-old man with sporadic hyperkalemic periodic paralysis (HPP) presented with moderate excessive daytime sleepiness and transitory episodes of weakness which occurred during and after sleep. Multiple sleep latency test (MSLT) demonstrated the presence of five sleep onset REM periods (SOREMPs) and a sleep latency of five minutes. Treatment with a diuretic which decreases serum potassium resolved all the clinical symtomps and a new MSLT showed the absence of SOREMPs and a sleep latency of 13.5 minutes. To our knowledge, the patient herein reported is the first case that associates sleep abnormalities and multiple SOREMPs with HPP. Furthermore, the present case suggests that SOREMPs may be explained by an increased extracellular potassium conductance related to HPP.     

An outbreak of acute flaccid paralysis in Jamaica associated with echovirus type 22

An outbreak of acute flaccid paralysis in Jamaica in 1986 associated with echovirus type 22 is described. Six patients aged 1 to 27 years developed acute onset of severe flaccid paralysis, with inability to walk. Three cases had facial weakness, four required intensive care with assisted ventilation, and two died. Echovirus type 22 was isolated from the stool of two patients who showed a significant increase in antibody titre. Echovirus type 22 was also isolated from the stool of another patient who had aseptic meningitis without any neurological deficit. There was no evidence of poliovirus infection in any of these patients, most of whom were fully immunized. Of the four surviving cases with flaccid paralysis, three had residual weakness in their lower limbs and walked with an abnormal gait 3 years after the acute paralytic attack. This is the first report in the literature of acute flaccid paralysis associated with type 22 echovirus.     

Andersen syndrome autosomal dominant in three generations.

Andersen syndrome is a rare entity and comprises potassium sensitive periodic paralysis, ventricular arrhythmia, and an unusual facial appearance; syncope and sudden death have also been reported. The recognition of the characteristic face permits an early diagnosis in order to detect the severe systemic manifestations that are associated with this syndrome. The genetic defect is not linked to any other form of potassium sensitive periodic paralysis nor is it related to that of the long QT syndrome; nevertheless, a prolonged QT interval can be detected in a significant proportion of the cases. Sixteen cases of this syndrome have been described. We report on a three-generation family with 10 affected members. To our knowledge, this is the largest number of cases reported in one family. We noted some additional minor anomalies such as broad forehead and malar hypoplasia. Our patients had variable expression in the classical triad and of the severity of the systemic manifestations. Five of 8 affected studied members did not have a long QTc, which has been suggested as a constant finding in this syndrome.     

The possible relation between postpartum exacerbation of hyperthyroidism and neonatal thyrotoxicosis

Hyperthyroidism is generally considered to be ameliorated during pregnancy, and there appears to be a high incidence of postpartum exacerbation. These phenomena have to our knowledge not been related to neonatal thyrotoxicosis, a transient hyperthyroidism seen only in newborns of previous or current hyperthyroid mothers. The first of two siblings of a previously thyrotoxic mother had marked symptoms of neonatal thyrotoxicosis and high levels of thyroid hormones. The mother had not received antithyroid treatment during her first pregnancy. During her next pregnancy she was treated with propylthiouracil from the second trimester. This infant had only minimal thyrotoxic signs but almost as high levels of thyroid hormones during the neonatal period as the elder. The mother had no signs of postpartum exacerbation but her thyroid hormones were significantly elevated in the postpartum period analogous to the infants. Neither the mother nor the infants presented any increase in thyroid-stimulation hormone and long-acting thyroid stimulator during the hyperthyroid periods. The possibility is discussed, that postpartum exacerbation of hyperthyroidism and neonatal thyrotoxicosis may be related. They could be the result of a changed balance between a thyroid stimulator and an inhibitor after birth.     

Andersen syndrome autosomal dominant in three generations

Andersen syndrome is a rare entity and comprises potassium sensitive periodic paralysis, ventricular arrhythmia, and an unusual facial appearance; syncope and sudden death have also been reported. The recognition of the characteristic face permits an early diagnosis in order to detect the severe systemic manifestations that are associated with this syndrome. The genetic defect is not linked to any other form of potassium sensitive periodic paralysis nor is it related to that of the long QT syndrome; nevertheless, a prolonged QT interval can be detected in a significant proportion of the cases. Sixteen cases of this syndrome have been described. We report on a three-generation family with 10 affected members. To our knowledge, this is the largest number of cases reported in one family. We noted some additional minor anomalies such as broad forehead and malar hypoplasia. Our patients had variable expression in the classical triad and of the severity of the systemic manifestations. Five of 8 affected studied members did not have a long QTc, which has been suggested as a constant finding in this syndrome. Am. J. Med. Genet. 85:147–156, 1999. © 1999 Wiley-Liss, Inc.     

Exploring the utility of whole‐exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

The advent of whole‐exome next‐generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½‐year old female patient with a 2‐year history of episodic muscle weakness and paroxysmal dystonia who presented following a previous extensive but unrevealing diagnostic work‐up. WES was performed on the proband and her two parents. Parental exome data was used to filter potential de novo genomic events in the proband and suspected variants were confirmed using di‐deoxy sequencing. WES revealed a de novo non‐synonymous mutation in exon 21 of the calcium channel gene CACNA1S that has been previously reported in a single patient as a rare cause of atypical hypokalemic periodic paralysis. This was unexpected, as the proband's original differential diagnosis had included hypokalemic periodic paralysis, but clinical and laboratory features were equivocal, and standard clinical molecular testing for hypokalemic periodic paralysis and related disorders was negative. This report highlights the potential diagnostic utility of WES in clinical practice, with implications for the approach to similar diagnostic dilemmas in the future.     

A Plurihormonal TSH-Secreting Pituitary Microadenoma: Report of a Case with an Atypical Clinical Presentation and Transient Response to Bromocriptine Therapy

Inappropriate secretion of thyrotropin (TSH) is a rare cause of hyperthyroidism, and it is caused by either a TSH-producing pituitary adenoma (usually a macroadenoma) or to selective pituitary resistance to thyroid hormone. The case of a 31-yr-old male who presented with clinical features of thyrotoxicosis, including episodes of thyrotoxic paralysis, and a thyroid profile characterized by free hyperthyroxinemia and hypertriiodothyronemia with a nonsuppressed, inadequately normal TSH is reported. Dynamic testing showed both, lack of TSH stimulation by thyroid-releasing hormone (TRH), and lack of suppression by T3, consistent with autonomous TSH secretion. Pituitary MRI revealed a microadenoma. Seventy five percent of the patient’s serum TSH immunoreactivity eluted as α-subunit in Sephadex G-100 chromatography. A diagnosis of TSH-secreting microadenoma was established, and the patient was treated successfully with bromocriptine, which resulted in both clinical and biochemical resolution of his hyperthyroidism. Two months later, he became hyperthyroid again during bromocriptine therapy. Octreotide was started with adequate control of his symptoms and normalization of his free T4 level. He eventually underwent transsphenoidal surgery with successful resection of a chromophobic microadenoma which immunostained for TSH, growth hormone (GH), luteinizing hormone (LH), and follicle-stimulating hormone (FSH). One month postoperatively he is clinically and biochemically euthyroid on no medications.     

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene

We report on a patient with a severe, rare neonatal form of non-dystrophic myotonia. The patient presented with facial dysmorphism, muscle hypertrophy, severe constipation, psychomotor delay, and frequent cold-induced episodes of myotonia and muscle weakness leading to severe hypoxia and loss of consciousness. Muscle biopsy was non-specific and electromyography revealed intense generalized myotonia. The myotonic episodes improved after introducing oral mexiletine and maintaining room temperature at 28 degrees C. The patient died at 20 months of age following a bronchopulmonary infection. A previously undescribed de novo heterozygous c.3891C > A change, which predicts p.N1297K in the SCN4A gene. Mutations within the voltage-gated sodium channel alpha-subunit gene (SCN4A) have been described in association with several phenotypes including paramyotonia congenita, hyperkalemic or hypokalemic periodic paralysis, and potassium-aggravated myotonias. The cold-sensitive episodes of stiffness followed by weakness suggested the diagnosis of channelopathy in our patient. However, her neonatal onset, the triggering of severe episodes by exposure to modest decreases in temperature, involvement of respiratory muscles with prolonged apnea, early-onset muscle hypertrophy, psychomotor retardation, and fatal outcome are evocative of a distinct clinical subtype. Our observation expands the phenotypic spectrum of sodium channelopathies.     

Transverse myelitis in a patient with primary antiphospholipid syndrome

The neurological manifestations of antiphospholipid syndrome (APS) are diverse. Transverse myelitis (TM) is an uncommon, but well-known neurological complication of systemic lupus erythematosus (SLE). On the other hand, the reported cases associated with primary APS are extremely rare. To our knowledge, this is the first report of TM in a patient with primary APS in Korea. A 32-year-old male patient was admitted with the sudden onset of numbness, a tingling sensation, and weakness in both lower extremities. He had a 19 months history of external iliac and femoral arterial thromboses prior to admission. The laboratory results indicated the presence of anticardiolipin antibodies of the IgG class and lupus anticoagulant. No other autoantibodies were detected and there were no apparent clinical manifestations of SLE or multiple sclerosis. A T2-weighted magnetic resonance (MR) image showed swelling and increased intensity of the cervical and thoracic spinal cord between C6 and T7 with slight enhancement by contrast medium. After steroid pulse therapy, the patient's symptoms were gradually relieved and the abnormal findings on MR imaging disappeared.     

Thyrotoxic crisis in Graves' disease: Indication for immediate surgery

Summary Thyrotoxic crisis (thyroid storm) is a rare complication of hyperthyroidism. It can be observed not only in thyroid autonomy with latent hyperfunction after exposure to iodine, but also in Graves' disease with overt hyperfunction. Adequate management of thyrotoxic crisis is still controversial. We report about four patients (four women, mean age 75 years) with Graves' disease who developed thyrotoxic crisis during therapy with antithyroid drugs so that surgical intervention became necessary. The patients had been admitted to the hospital for nonspecific symptoms such as headache, cachexy, and psychosis. Thyroid hormone levels had reached twice the normal range prior to surgery. All patients showed severe neurological deficits leading to coma. In three cases euthyroidism was achieved within two days after surgery. The neurological symptoms disappeared after an average of four days. The postoperative course did not show severe complications and all patients recovered completely.Especially in the elderly a monosymptomatic or nonspecific course of thyroid storm with neurological symptoms may represent a severe and life-threatening situation. In these cases surgery can become necessary even if euthyroidism has not been achieved preoperatively.Abbreviations dl deciliter - FT3 free triiodthyronine - FT4 free thyroxine - Hg mercury - l liter - MAK microsomal antibodies - mg milligram - ml milliliter - mU milliunit - ng nanogram - T3 triiodthyronine - T4 thyroxine - TAK thyroglobulin antibodies - TBG thyroxine-binding globulin - TRAK TSH-receptor antibodies - TRH thyrotropin-releasing hormone - TSH thyroid-stimulating hormone - TT3 total triiodthyronine - TT4 total thyroxine - g microgram     

Hypokalemic Periodic Paralysis in a Hyperthyroid Black Woman

In this case of periodic paralysis and thyrotoxicosis, investigation of the patient''s family revealed other members similarly affected. To the best of the authors'' knowledge, it represents the first reported instance of this familial association in the case of a black woman.     

A case of acute paraplegia that improved with dialysis

Acute severe hyperkalemia can present as acute paraplegia independent of cardiac effects, even though cardiac muscle is more sensitive to serum potassium changes. We managed a patient with acute hyperkalemic paralysis who did not have threatening cardiac/electrocardiographic manifestations. The limb weakness became normal after hemodialysis.     

Hyperthyroid hypokalemic periodic paralysis in a Hispanic male

A case of hyperthyroid periodic paralysis in a Hispanic male is reported, the disorder in this race being described only once before. He presented with complete paralysis below the neck, and his admission potassium of 1.3 mEq/L is the lowest reported in the literature. Correction of the hypokalemia resolved his symptoms. Radionuclide imaging and thyroid function tests revealed the presence of hyperthyroidism which was managed medically. The pathophysiology of hyperthyroid hypokalemic periodic paralysis is discussed.