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Manifestation, management and molecular analysis of candidate genes in two rare cases of thyrotoxic hypokalemic periodic paralysis.

BACKGROUND: Hypokalemic periodic paralysis as a complication of thyrotoxicosis (THypoKPP) is common in Asians but not well recognized in Western countries or pediatric patients, where most cases are due to the familial variant (FHypoKPP). Ion channel gene mutations may underlie these diseases. We describe the first pediatric and a rare adult Caucasian case of THypoKPP in Finland. METHODS: Manifestation and management of two THypoKPP cases. We studied for possible mutations in KCNE3, KCNJ2, SCN4A and CACNA1S genes. RESULTS: A 15-year-old Vietnamese boy presented with sudden-onset paralysis and severe hypokalemia, 1.8 mmol/l. The case was first regarded as FHypoKPP, but thyroid function testing revealed a suppressed TSH and highly elevated FT4. A 37-year-old Caucasian male presented with acute tetraparesis. His plasma potassium was only 1.4 mmol/l. Treatment with carbimazole had been initiated two weeks earlier, but FT4 was still elevated. No mutations in KCNE3, KCNJ2, SCN4A or CACNA1S genes were detected. CONCLUSIONS: THypoKPP is a potentially life-threatening condition which bares many similarities with FHypoKPP. THypoKPP is rare in Western countries but should be considered in sudden-onset paralysis, independently of age and especially in males. Mutations in ion channel candidate genes did not underlie the disease in the present cases.

Adolescent↗

Hypokalemic periodic paralysis secondary to renal tubular acidosis.

A 62-year-old woman with distal renal tubular acidosis (RTA) and hypokalemic muscle paralysis is described. As neither the history nor the clinical examination can differentiate between hypokalemic paralysis caused by RTA and that of familial hypokalemic paralysis, and because the emergency as well as prophylactic treatment of the two disorders are quite different, a simple differential diagnostic workup is emphasized.

Acidosis↗

Electronic bladder stimulation in spinal cord paralysis.

Authors performed electronic stimulation of the paralysed bladder that was attributed to various innervation troubles. For this purpose, they implanted 10 patients with stimulator Model PMS-3, each with 8 electrodes. In three cases, outside factors (like endocarditis, pyelonephritis aposthematosa, and progress of paralysis in the limbs) forced them to remove the stimulator. The other cases can be declared as successful, for complete bladder emptying has been obtained. The authors want to emphasize that patients with an implanted stimulator can dispense with an indwelling catheter thereby avoiding vesicoureteral reflux. The absence of recurrent pyelonephritis results in prolonged health. This new technique seems to be appropriate, especially in peripheric paralysis, while central paralysis connected with fibrosis of the bladder neck often requires additional surgical intervention, e.g. transurethral resection.

Adolescent↗

Cervical magnetic stimulation of the phrenic nerves in bilateral diaphragm paralysis.

Cervical magnetic stimulation (CMS) produces a greater twitch transdiaphragmatic pressure (TwPdi) than electrical stimulation. This may be because CMS produces rib cage muscle activation, thus producing an inspiratory action independent of the diaphragm. Alternatively, CMS could merely stiffen the rib cage, allowing the diaphragm to act efficiently, by contracting against a stable rib cage. To examine these two hypotheses we studied five patients with isolated bilateral diaphragm paralysis using CMS and bilateral electrical phrenic stimulation (BES). TwPdi, twitch esophageal pressure (TwPes), and twitch gastric pressure (TwPgas) were measured. We also assessed maximal sniff esophageal and transdiaphragmatic pressures (SnPes) (SnPdi), maximal inspiratory and expiratory mouth pressures (MIP) (MEP), and fall in VC on moving from an upright to a supine position. Respiratory muscle strength tests were consistent with bilateral diaphragm paralysis, and the MEPs confirmed normal expiratory muscle function. The patients were able to generate a mean SnPes of -30 cm H2O, mainly because of inspiratory activity of rib cage and neck muscles. However, TwPdi and TwPes during both CMS and BES were close to zero. We conclude that in our patients with diaphragm paralysis caused by neuralgic amyotrophy, CMS stiffens the rib cage but does not have an inspiratory action independent of the diaphragm.

Adult↗

Respiratory function after paralysis of the right hemidiaphragm.

We studied a 45-yr-old man with normal lung function before and 7 wk after right phrenic nerve crush. Total lung capacity, functional residual capacity, and forced vital capacity decreased with residual volume remaining unchanged. Static compliance was also unchanged. Ventilatory response to CO2 (delta Ve/delta PaCO2) was preserved, but P0.1 response to CO2 (delta P0.1/delta PaCO2) increased. Analysis of raw mouth pressure suggested that these responses were the result of a new rapid pattern of inspiratory pressure development. Regional washout was slowed on the side with paralysis, but the normal apex-to-base gradient of regional volumes was preserved. Inhaled 133Xe boluses were distributed away from the side of paralysis, and bolus distribution changed relatively little with increased flow. These results suggested that in compensation for paralysis of a hemidiaphragm, a new pattern of inspiratory muscle recruitment developed, involving more rapid contraction of the remaining muscles of inspiration.

Forced Expiratory Volume↗

Bilateral diaphragmatic paralysis as a possible paraneoplastic syndrome from renal cell carcinoma.

Bilateral diaphragmatic paralysis is rare. We describe a patient with bilateral diaphragmatic paralysis who died 18 months after initial presentation and who was found to have renal cell carcinoma. At autopsy, no intrathoracic tumor was found that would explain the diaphragmatic paralysis. We believe that this may represent a paraneoplastic syndrome caused by renal cell carcinoma.

Adenocarcinoma, Papillary↗

Chromosomal abnormalities in idiopathic congenital bilateral vocal cord paralysis.

Idiopathic congenital bilateral vocal cord paralysis (BVCP) can occur as an isolated abnormality or as part of a multisystem disorder. The chromosomal abnormalities found in 4 children who presented with idiopathic congenital BVCP in association with other congenital abnormalities between January 1991 and April 1999 are described. Three children had abductor paralysis, and tracheostomy was required in 1. The fourth child had adductor paralysis and required a feeding gastrostomy for management of aspiration. There was no clinically significant improvement in vocal cord function observed in any child. Idiopathic congenital BVCP, when associated with other congenital disorders, may occur as a consequence of an underlying chromosomal abnormality, and chromosome studies should be performed in this group of children. Similarly, the possibility of vocal cord dysfunction should be considered in children who are found to have chromosomal abnormalities. A chromosomal abnormality appears to preclude the possibility of early spontaneous improvement in vocal cord function.

Abnormalities, Multiple↗

Lack of evoked laryngeal electromyography response in patients with a clinical diagnosis of vocal cord paralysis.

There has been recent debate about whether patients with vocal cord immobility have a neurologic paralysis or whether synkinesis, the misdirection of axons to competing laryngeal muscles, is responsible for the lack of voluntary vocal cord motion. This issue was studied in 15 patients with vocal cord paralysis who underwent laryngeal reinnervation. Evoked electromyography was performed with a surface electrode endotracheal tube. The recurrent laryngeal nerve (RLN) was identified and stimulated with constant current. Of the 15 patients, only 1 produced a compound muscle action potential upon nerve stimulation. The remaining 14 patients had no evoked response during RLN stimulation. A control group of 8 patients with normal vocal cord mobility was studied, and each had a normal evoked electromyography response after RLN stimulation. These results support the assertion that patients who require treatment for vocal cord paralysis do not have synkinesis produced by RLN reinnervation.

Adult↗

Impact of vocal cord paralysis on cricoarytenoid joint.

To demonstrate structural changes in the cricoarytenoid joint after recurrent laryngeal nerve paralysis, we performed a laboratory investigation of fixed arytenoid cartilages from adult humans obtained during laser surgical arytenoidectomy in cases of bilateral vocal fold paralysis, analyzing the articular cartilage, the joint capsule, and the attached laryngeal musculature. Ten arytenoid cartilages from adult humans were studied by means of histology, as well as scanning and transmission electron microscopy. After long-standing denervation (>6 months), all arytenoid cartilages showed degenerative changes in their joint surface structure at various levels of intensity. The articular surface revealed fibrillation in some places, demasking of collagen fibrils next to the joint surface, and formation of chondrocyte clusters near the joint surface. All specimens also showed muscle atrophy. We conclude that long-standing recurrent laryngeal nerve paralysis does not result in ankylosis of the cricoarytenoid joint, as assumed, but the articular cartilage undergoes structural changes comparable to those in osteoarthritis. Structural changes in the articular cartilage and in the surrounding musculature hamper efforts at joint function recovery, as do procedures aiming solely at either medialization or lateralization of the vocal fold.

Adolescent↗

Surgery for pediatric vocal cord paralysis: a retrospective review.

To determine the outcome of surgical procedures for bilateral vocal cord paralysis in children, we performed a retrospective review of children under 18 years of age with bilateral vocal cord paralysis and a previous tracheotomy who underwent a primary procedure at a single tertiary care institution with an aim of decannulation. The primary outcome measure was the operation-specific decannulation rate (OSDR). The overall decannulation rates, as well as morbidity rates, were also recorded. Fifty-two children met the inclusion criteria (mean age at time of primary surgery, 6.2 years; SD, 5 years). Vocal cord lateralization procedures combined with a partial arytenoidectomy achieved the highest OSDR (17/24 or 71%). This OSDR was statistically higher than the OSDRs for CO2 laser cordotomy or arytenoidectomy procedures (OSDR, 5/17 or 29%, p = .008), for isolated arytenoidopexy procedures (OSDR, 1/4 or 25%, p = .000004), or for posterior costal cartilage graft procedures (OSDR, 3/5 or 60%, p = .0004). Neither of the 2 children who underwent isolated arytenoidectomy achieved primary decannulation. The incidence of aspiration following posterior cartilage graft procedures was 15% (2/15). Subanalysis by age failed to reveal differences in OSDR. We conclude that vocal cord lateralization procedures with partial arytenoidectomy afford the highest OSDR among primary procedures for pediatric vocal cord paralysis. The CO2 laser procedures, while having limited success as a primary procedure, are effective for revision.

Adolescent↗

Autologous fat injection laryngohypopharyngoplasty for aspiration after vocal fold paralysis.

Injection laryngoplasty is one of the procedures for treating unilateral vocal fold paralysis. This is a preliminary report on modified injection laryngoplasty, ie, injection of liposuctioned autologous fat into the larynx and hypopharynx of patients who have aspiration and voice disorders after vocal fold paralysis. Lipoinjection was performed in 3 patients with these complaints with the endolaryngeal microsurgical technique under general anesthesia. The locations of fat injection were the vocal fold, the false vocal fold, the aryepiglottic fold of the larynx, and the medial wall of the pyriform sinus of the hypopharynx. Lipoinjection into the vocal fold, false vocal fold, and aryepiglottic fold strengthened laryngeal closure. Lipoinjection, performed into the thyroarytenoid muscle lateral to the oblong fovea of the arytenoid cartilage, made arytenoid cartilage rotation possible, and consequently strengthened laryngeal closure. Lipoinjection into the medial wall of the pyriform sinus of the hypopharynx reduced its capacity; consequently, the amount of residual food retained in it was reduced and pharyngeal clearance on the affected side was improved. The longest follow-up among the 3 patients has been 24 months. Their aspiration and glottal incompetence have been improved by this operation. We conclude that modified injection laryngoplasty (laryngohypopharyngoplasty) is one of the surgical options for preventing aspiration after vocal fold paralysis.

Adipose Tissue↗

Bilateral changes in cortical motor representation of the tongue after unilateral peripheral facial paralysis: evidence from transcranial magnetic stimulation.

Motor evoked potentials of the lingual muscles due to focal cortical transcranial magnetic stimulation were investigated in 5 patients with unilateral total facial paralysis with regard to amplitude as a function of the coil position on the interaural line. Maximum bilateral responses could be obtained at mean stimulus positions of about 6 to 8 cm lateral to the vertex. In comparison with healthy subjects, the patient group had significantly smaller mediolateral calculated centers for ipsilateral and contralateral responses. At the optimum stimulus positions, the patients' mean motor evoked potential amplitudes were significantly lower than those in healthy subjects. These alterations could be observed on both cortical hemispheres, but were more pronounced for the hemisphere contralateral to the side of facial paralysis. Thus, we provide strong evidence of bilateral changes in lingual cortical motor representation following facial paralysis with an invasion of the facial motor area by the tongue motor representation.

Adult↗

Unilateral vocal cord paralysis causes contralateral false-positive positron emission tomography scans of the larynx.

Positron emission tomography (PET) is used in the management of head and neck cancers. It identifies tissue with increased metabolic activity and is not specific for malignancy. A false-positive PET scan of the larynx is associated with vocal cord paralysis. We reviewed PET scan reports of patients with lung cancer from 1998 to 2001 to identify patients with increased 18-fluoro-2-deoxyglucose uptake in the larynx without a known history of head and neck cancer and then correlated this increased uptake with laryngoscopic findings. There were 17 patients who had a positive PET finding in the larynx. Fifteen of those had a false-positive PET scan in the larynx. All had contralateral vocal cord paralysis. Two patients were noted to have head and neck cancer. We conclude that vocal cord paralysis can cause a false-positive PET scan on the contralateral side of the larynx due to overactivity of laryngeal muscles that compensate for the paralyzed cord.

Adult↗

Hereditary abductor vocal cord paralysis.

Familial bilateral abductor cord paralysis was described in the father and two sons of a family in which the ramaining siblings (obe boy and three girls) were normal. The onset of stridor ranged from six months to nine years after birth in these patients who were all treated with a tracheostomy. Normal development and intelligence was experienced by all three patients. Since previous reports of hereditary abductor cord paralysis described mental retardation in all patients who were maintained without tracheostomy, anoxia from unrelieved laryngeal obstruction may be a significant complication following nonsurgical management of patients who appear to tolerate bilateral abductor vocal cord paralysis.

Child↗

Pseudolaryngeal paralysis: a postintubation complications.

Seven patients in the pediatric age group who had severe posterior glottic stenosis are reported. All of these patients had been misdiagnosed as having bilateral vocal cord paralysis because of errors in observing the actual findings in the larynx. On cursory examination of the larynx, the findings resembled vocal cord paralysis, thus the name "pseudolaryngeal paralysis" was given to this disease entity. This paper describes in some detail the case histories, the endolaryngeal findings, and the therapy which was instituted and followed. The difficulties in managing this problem are also reviewed. Three of the seven patients were decannulated, two with persistent stress, stridor and reduced exercise tolerance. Four other patients have improved, but are still in the process of being treated. The success of the therapy appears to be dependent on the severity of the scarring, whether there was fibrosis of the interarytenoideus muscle, and whether the cricoarytenoid joints were involved. It is hoped that by reporting this difficult problem, a more rapid and successful form of management will be developed.

Adolescent↗

Vocal cord paralysis in small children: principles in management.

Vocal cord paralysis in children is an uncommon but often disabling problem. It may be congenital or acquired either in the immediate period surrounding birth or as a postpartum event. Because even unilateral vocal cord paralysis can result in severe respiratory distress in the newborn and in small children, recognition of this problem can be critical. A logical approach to diagnosis and management requires not only that the physician be alert to the problem but also that several procedures be established that can be used together or singly to address the problem, as is most appropriate to the individual case. The usefulness of intubation, tracheotomy, surgical lateralization of the vocal folds, and reinnervation in the management of these problems is discussed, and 30 cases of vocal cord paralysis in children under the age of 5 years are presented.

Arytenoid Cartilage↗

Thread test of lacrimation in 110 cases of peripheral facial paralysis.

The thread test of lacrimation was performed on 110 patients with peripheral facial paralysis, and the changing values during the course of paralysis were observed. In 27.3%, the values stayed within the normal range of 60% to 140% of the intact side throughout the course of illness (normal type). In 14.5%, the value was over 140% before the start of recovery (hypertype 1). High values were seen in 39.1% during recovery from facial paralysis (hypertype 2), and values under 60% (hypotype) in 6.4%. Hyperlacrimation was frequently observed in Hunt's syndrome. Hypertypes, with temporarily increased lacrimation during the course of illness, seemed to reflect the regenerating activities of injured nerves in the early and recovery phases of facial palsy.

Facial Paralysis↗