[Successful High Flow Nasal Cannula Therapy in a Patient with Myotonic Dystrophy during Perioperative Period].

A 44-year-old woman (body mass index 32) with myotonic dystrophy was admitted for bilateral para- thyroidectomy. Her risk of post-operative respiratory complications was high due to respiratory muscle weakness (%VC 52.8%) and high sputum volume. Difficulties in surgery were anticipated under local anesthesia due to obesity and bilateral tumors. There- fore, general anesthetic management without muscle relaxant was selected and early extubation conducted to prevent respiratory complications. She was extubated 1 hour after surgery in the intensive care unit (ICU) and F102 0.6, 10 l · min⁻¹ oxygen mask was administrated. Paco2 gradually increased (54 mmHg 15 minutes later, 61 mmHg 2 hours later after extubation). A high flow nasal can- nula was administered to facilitate CO2 elimination, and Paco2 decreased to 46 mmHg after 4 hours. An intra- pulmonary percussive ventilator was administered for the purpose of sputum discharge which facilitated effi- cient expectoration of sputum. She was discharged from the ICU on postoperative day (POD) 1 and from hospital on POD 6 without complications.

Use of Sugammadex in a Patient with Myotonic Dystrophy Undergoing Laparoscopic Cholecystectomy.

A 37-year-old female patient with myotonic dystrophy was scheduled for laparoscopic cholecystectomy for gall stone under general anesthesia with continuous propofol infusion. Rocuronium was administered with careful monitoring using TOF- Watch®, measuring train-of-four count (Tc), TOF ratio (Tr), and posttetanic count The total amount of rocuronium was 70 mg ; 0.6 mg .kg⁻1 for anesthetic induction and 0.3 mg .kg⁻1 when Tc exceeded 1. When the operation was completed, Tc was 4, Tr was uncountable and she showed reaction to calling her name. Then sugammadex 2 mg .kg⁻1, rapidly antagonized the neuromuscular block, such that the Tr recovered to 100% but tidal volume was 250 ml in 3 minutes. Additional dorsage of sugammadex, 2 mg .kg⁻1, was required for tidal volume to recover to 530 ml. After 20 minutes of first administration of sugammadex, we extubated the tracheal tube without respiratory depression. To avoid respiratory depression, we did not use postoperative opioids. Intraoperative transversus abdominis plane block and postoperative thoracic epidural block with ropivacaine were successful for postoperative pain relief.

Congenital myotonic dystrophy: ventriculomegaly and shunt considerations for the pediatric neurosurgeon.

PURPOSE: Ventriculomegaly in infants with congenital myotonic dystrophy (CDM) is common, and the neurosurgical determination of shunting is complex. The natural history of CDM-associated ventriculomegaly from prenatal to natal to postnatal stages is poorly known. The relationship between macrocephaly and ventriculomegaly, incidence of shunt necessity, and early mortality outcomes lack pooled data analysis. This study aims to review clinical features and pathophysiology of CDM, with emphasis on ventriculomegaly progression, ventriculomegaly association with macrocephaly, and incidence of shunting. METHODS: This is a literature review with pooled data analysis and case report. RESULTS: One hundred four CDM patients were reviewed in 13 articles that mentioned CDM with ventriculomegaly and/or head circumference. Data was very limited: only 7 patients had data on the presence or absence of prenatal ventriculomegaly, 97 on ventriculomegaly at birth, and 32 on whether or not the ventricles enlarged post-natally. Three patients of 7 (43 %) had pre-natally diagnosed ventriculomegaly, 43 of 97 (44 %) had ventriculomegaly at birth, and only 5 of 32 (16 %) had progressive enlargement of ventricles post-natally. Only 5 of 104 patients had a documented shunt placement: 1 for obstructive, 1 for a post-hemorrhagic communicating, 2 for a communicating hydrocephalus without hemorrhage, and 1 with unknown indication. Of 13 macrocephalic patients with data about ventricular size, 12 had ventriculomegaly. CONCLUSIONS: Ventriculomegaly occurs regularly with CDM but most often does not require CSF diversion. Decisions regarding neurosurgical intervention will necessarily be based on limited information, but shunting should only occur once dynamic data confirms hydrocephalus.

The effect of rocuronium and sugammadex on neuromuscular blockade in a child with congenital myotonic dystrophy type 1.

Myotonic dystrophy type 1 (MD1) is the commonest muscular dystrophy found in adults; however, it may present in the neonatal period with hypotonia, talipes, poor feeding, and respiratory failure. Inheritance is autosomal dominant with a defect in the DMPK gene found on the long arm of chromosome 19 with variable expansion of the cytosine-thymine-guanine (CTG) triplet repeat. A 14-month-old boy with congenital MD type 1 was scheduled for percutaneous endoscopic gastrostomy (PEG) insertion, orchidopexy, and division of tongue-tie. Following induction of anesthesia, acceleromyography was used to monitor neuromuscular function. This revealed a very rapid onset of profound neuromuscular block which lasted significantly longer than would be expected in a child without MD1. Sugammadex reversed the block rapidly. The anesthetic management of children with MD1 has been well described but not the acceleromyographic monitored use of rocuronium and its subsequent reversal with the new cyclodextrin sugammadex.

Eyelid surgery in ocular myopathies.

OBJECTIVE: To retrospectively analyse surgical outcome and complications in patients with ocular myopathy undergoing ptosis correction and to introduce preoperative prophylactic lower lid elevation in this group. METHODS: The medical records of all ocular myopathy patients who had undergone oculoplastic surgery between June 1995 and May 2006 were obtained. Patients' demographics, surgical details and measurements, and complications were recorded. RESULTS: 29 patients were identified; 21 with chronic progressive external ophthalmoplegia (CPEO), 7 with myotonic dystrophy (MD) and 1 with oculopharyngeal muscular dystrophy (OPMD). Then, 61 procedures to adjust eyelid height were performed, comprising levator resection, brow suspension, anterior lamellar repositioning, lower lid elevation and upper lid lowering. Palpebral aperture was significantly increased in all patient groups, by procedure and diagnosis, more significantly following brow suspension compared with levator resection. The patients' feedback was very positive. Post-operative complications were few, included corneal exposure and ulceration, ptosis recurrence, arched brow, and sling infection, all of which were successfully treated. CONCLUSION: Our results demonstrate subjective and objective benefit following surgery in these patients, with a low complication rate. The use of pre-operative prophylactic lower lid elevation procedures is a promising modality.

Effective anesthetic management with remimazolam and ketamine without muscle relaxants for parotidectomy in a patient with myotonic dystrophy: A case report.

RATIONALE: Patients with myotonic dystrophy (DM) are highly sensitive to anesthetics, muscle relaxants, and opioids, necessitating appropriate anesthetic management. Recently, remimazolam, an ultra-short-acting benzodiazepine, has been approved for use as a general anesthetic in Japan, and patients with DM have reportedly been treated with remimazolam. However, to the best of our knowledge, no study has reported on endotracheal intubation without the use of muscle relaxants under anesthetic management with remimazolam, nor on the combination of remimazolam and ketamine. PATIENT CONCERNS: A 23-year-old man was referred to our hospital for right parotidectomy and diagnosed with DM just before surgery. At the surgeon's discretion, he was scheduled to undergo nerve monitoring to preserve the facial nerve. DIAGNOSIS: Myotonic dystrophy. INTERVENTIONS: We planned total intravenous anesthesia without muscle relaxants and selected remimazolam for anesthesia. Our aim was to prevent the intraoperative or postoperative complications associated with propofol and inhalational anesthetics. Additionally, we selected multimodal analgesia, including ketamine, to avoid opioid use. General anesthesia was induced with ketamine 30 mg, remifentanil 0.72 µg/kg/min, and remimazolam 12 + 6 mg. Endotracheal intubation was performed under videolaryngoscopy without the use of muscle relaxants. For postoperative analgesia, we administered additional doses of ketamine 20 mg and acetaminophen 1000 mg, and the surgeons infiltrated 8 mL of xylocaine 0.5% with epinephrine into the skin incision before starting the surgery. Intraoperative anesthesia was maintained with remimazolam 0.9 to 1.0 mg/kg/h and remifentanil 0.26 to 0.50 µg/kg/min. Flumazenil was administered for rapid awakening and safe extubation. All vitals, including the bispectral index, were stable during surgery. OUTCOMES: The patient did not develop facial nerve paralysis, sore throat, or hoarseness, nor did he have any memory of the surgery. Good postoperative analgesia was achieved. LESSONS: We achieved effective anesthetic management using remimazolam without muscle relaxants in a patient with DM. Furthermore, the combination of remimazolam and ketamine provided good sedation and postoperative analgesia.

Anesthesia for laparoscopic surgery in a patient with myotonic dystrophy (Steinert's disease): beneficial use of sugammadex, but incorrect use of pethidine: a case report.

Patients with Myotonic Dystrophy show an unpredictable response to several anesthetic drugs including opioids, neuromuscular blocking agents and especially reversal agents like neostigmine. We describe the case of a 40 year old patient with myotonic dystrophy who underwent laparoscopic cholecystectomy and ovarian cyst removal under general anesthesia. The authors suggest the use of the new reversal agent suggamadex, for reversing neuromuscular blockade caused by rocuronium, in patients suffering from neuromuscular disease and especially from Myotonic Dystrophy, because it rapidly and completely reverses any residual neuromuscular blockade, but also underline the increased susceptibility of these patients to opioids.

Complicated Traumatic Nerve Injury Treated with Tendon Transfers in a Patient with Myotonic Dystrophy: First Case Report.

CASE: We report a right-handed 37-year-old woman, with myotonic dystrophy type 1 (MD1), presenting with a posterior interosseus nerve injury because of a penetrating trauma in the right forearm. The tendon transfer technique was chosen based on tendon response and functionality of the arms during the surgery. The patient has been able return to her daily life activities with proper fine and gross motor control. CONCLUSION: Despite tendon transfer surgery being a common technique for radial nerve palsy reconstruction, its use has not been extensively described in the literature in patients with muscular dystrophies such as MD1.

Anesthesia and myotonic dystrophy type 2: a case series.

BACKGROUND: Myotonic dystrophy type 2 (DM2) is a genetically distinct disorder that shares some phenotypical features of myotonic dystrophy type 1 (DM1). However, anesthetic management of patients with DM2 has not been described. The purpose of this study is to report the anesthetic management of a series of patients with DM2 and to describe their response to anesthesia. METHODS: We performed a computerized search of the Mayo Clinic medical records database looking for patients with DM2 who underwent general anesthesia. The medical records were reviewed for anesthetic technique, medications used, and postoperative complications. RESULTS: We identified 19 patients with DM2 who underwent 39 general anesthetics, 17 monitored anesthetic care cases, and two regional anesthetics. The patients exhibited normal responses to succinylcholine, nondepolarizing neuromuscular blockers, neostigmine, induction agents, and volatile anesthetics. Serious postoperative complications related to DM2 did not occur. CONCLUSION: In our series, patients with DM2 tolerated commonly used anesthetics without obvious complications, and they exhibited normal responses to muscle relaxants. These observations suggest that these medications may be used safely in patients with DM2.

Can inhalation agents be used in the presence of a child with myopathy?

PURPOSE OF REVIEW: Anaesthesia for a child with a muscle disease is always challenging because there is a risk of malignant hyperthermia, rhabdomyolysis or hypermetabolic reaction if a halogenated agent is used. Ongoing progress in genetics helps in clarifying the link between malignant hyperthermia (a calcium channelopathy) and muscle diseases. RECENT FINDINGS: We provide a summary of the most recent clinical, pathophysiological and genetic information on those risks when the diagnosis is known or suspected preoperatively. Some simple clues are also given to help make a decision in the presence of an infant or child with hypotonia or motor delay but no diagnosis. SUMMARY: Only a few muscle diseases are really associated with a risk of malignant hyperthermia. The risk of rhabdomyolysis is more difficult to clarify and a multicentric database would be useful to evaluate the risk/benefit ratio of all anaesthetic drugs in patients with muscle diseases.

Orthopaedic manifestations of congenital myotonic dystrophy during childhood and adolescence.

BACKGROUND: Congenital myotonic dystrophy (CMD) is a dominantly inherited disorder manifested in childhood by muscle weakness which can be profound at birth, but which progressively improves over the first few years. Congenital myotonic dystrophy represents the severe end of the spectrum of myotonic dystrophy, which in milder cases may not be diagnosed until adulthood. The goal of the study was to identify and quantitate the musculoskeletal deformities which may significantly affect the function of children with CMD. METHODS: A retrospective chart and radiograph review was performed after Institutional Review Board approval for all cases of myotonic dystrophy from 1987 to 2004 followed at a children's specialty orthopaedic hospital. Inclusion criteria were either a conclusive testing for CMD by gene testing, electromyography, and/or muscle biopsy in the child or parent and the presence of a typical clinical picture. Skeletal manifestations were classified by body segment (upper extremity, hand, spine, hip, lower extremity, foot) and by the type of deformity. Surgical procedures and outcomes were also documented. RESULTS: Thirty children and adolescents met the inclusion criteria. The male/female ratio was 1 (15 boys and 15 girls). In 27 cases, the mother transmitted the disease, and in 2 cases, the father transmitted the disease; in one case, it was impossible to reconstitute the family history of the child who was adopted. The mean age at onset of gait was 29 months. Twenty-two (73%) out of 30 children underwent surgery for lower extremity-, foot-, or spinal-related deformities. The mean follow-up was 11.4 years (range, 3-20 years).No contractures or deformities were observed in the upper extremities. Spinal deformities affected 9 patients (30%), and 3 of these required surgery. These spinal deformities when present usually had an early onset and included thoracolumbar scoliosis as well as kyphoscoliosis. Problems at the level of the hips and knee were infrequent and included only 2 patients who had unilateral hip abduction contracture and 1 patient who had significant fixed knee flexion contracture. Congenital clubfoot occurred in 5 patients (17%) and generally responded well after posteromedial release and recurrence occurred in only one case. Developmental equinus and equinovarus exclusive of clubfoot affected 7 patients (23%), 70% of whom required surgery. Outcome after Achilles tendon lengthening was positive, and many of the children began walking soon after the Achilles lengthening, and recurrence did not occur. CONCLUSIONS: Child with CMD are at high risk for musculoskeletal deformities of the spine and lower extremities. In our experience, correction and improved function were likely after surgery. LEVEL OF EVIDENCE: Retrospective study; level IV.

Total esophagogastric dissociation in adult neurologically impaired patients with severe gastroesophageal reflux: an alternative approach.

Patients with neuromuscular impairment, such as cerebral palsy or myotonic dystrophy, often suffer from oropharyngeal neuromuscular incoordination and severe gastresophageal reflux (GER). In 1997, Bianchi proposed total esophagogastric dissociation (TEGD) as an alternative to fundoplication and gastrostomy to eliminate totally the risk of recurrence of GER in neurologically impaired children. Little information exists about the best management for adult patients with severe neurological impairment in whom recurrent GER develops after failed fundoplication. We present our experience in three adult patients with neurological impairment in whom TEGD with Roux-en-Y esophagojejunostomy and feeding gastrostomy was performed for permanent treatment of GER.

Ventricular tachycardia and sudden death in myotonic dystrophy: clinical, electrophysiologic and pathologic features.

A 37 year old man who presented with a cardiomyopathy, conduction defects and atrial and ventricular arrhythmias was found to have the neuromuscular manifestations of myotonic dystrophy. Despite implantation of a permanent cardiac pacemaker, antiarrhythmic drug therapy and antiarrhythmic surgery, sudden death occurred. The results of electrophysiologic studies, coronary arteriography and pathologic findings are described. This case confirms previous observations that ventricular arrhythmias, in addition to atrial arrhythmias and conduction disturbances, are cardiac manifestations of myotonic dystrophy and can lead to sudden death.

Surgical treatment of obesity in DM1--a case report and a review of the literature.

In patients with myotonic dystrophy type 1 overweight and obesity are frequent. When present this has further negative effects on the patients' pulmonary and muscle function as well as social participation. Anesthesia in myotonic dystrophy type 1 patients is associated with increased risks, especially in those who are obese. We describe the outcome of the first patient reported who has undergone gastric bypass surgery. The operation went without complications. Within two years after surgery she has lost 56.5 kg corresponding to 44% of her preoperative body weight (128.5 kg). She has lost muscle mass and muscle strength, but has gained somewhat in functional tests including pulmonary function and has no longer any need for nocturnal ventilation. Surgical treatment of obesity may be feasible in selected myotonic dystrophy type 1 patients but further studies are needed to determine appropriate criteria for surgery including body mass index limits and how pre- and post-operative follow-up should best be made.

Anesthetic and surgical complications in 219 cases of myotonic dystrophy.

The objective of this study was to assess the frequency, type, and severity of perioperative complications after a first surgery under general anesthesia in patients with myotonic dystrophy (DM) and to measure the association with suspected risk factors. Numerous cases of perioperative complications in DM patients have been reported. Hazards have been associated with the use of thiopentone, suxamethonium, neostigmine, and halothane. A retrospective study of perioperative complications was conducted for 219 DM patients who had their first surgery under general anesthesia at the Chicoutimi Hospital. The overall frequency of complications was 8.2% (18 of 219). Most complications (16 of 18) were pulmonary, including five patients with acute ventilatory failure necessitating ventilatory support, four patients with atelectasis, and three patients with pneumonia. Using multivariate analysis, we found that the risk of perioperative pulmonary complications (PPC) was significantly higher after an upper abdominal surgery (odds ratio (OR), 24.4; 95% CI, 4.0 to 149.3) and for patients with a severe muscular disability, as assessed by the presence of proximal limb weakness (OR, 14.1; 95% CI, 1.5 to 134.4). The likelihood of PPC was not related to any specific anesthetic drug. Because of the increased risk of PPC, careful monitoring during the early postoperative period, protection of upper airways, chest physiotherapy, and incentive spirometry are mandatory in all symptomatic DM patients, particularly those with a severe muscular disability or those who have undergone an upper abdominal surgery.

Sleep apnea following a pharyngeal flap: a feared complication.

Pharyngeal flaps are often used to correct velopharyngeal insufficiency. They produce a permanent partial obstruction of the velopharyngeal space. Respiratory obstruction and obstructive sleep apnea have been reported following this surgery. We undertook a study to find out the incidence of sleep apnea associated with pharyngeal flap surgery. Forty-one children (aged 2 to 22 years) admitted for a pharyngeal flap underwent a polysomnographic recording prior to their surgery. One child with Steinert's disease showed some episodes of obstructive apnea, and the surgery was canceled. Forty children underwent pharyngeal flap surgery, and polysomnography with continuous arterial saturation was repeated following surgery. Postoperative polysomnograms were normal in 26 patients (65 percent) and abnormal in 14 patients (35 percent). Among the 14 abnormal patients, we found 6 with obstructive apneas, 6 with central apneas, and 2 with both central and obstructive apneas. Ten of the 14 abnormal patients were restudied in the following months. Eight children had normal recordings, while 2 had central apneas. The 4 patients who declined a follow-up recording had no clinical symptoms of respiratory difficulty when sleeping. Of the 2 children with abnormal recordings on long-term follow-up, 1 is asymptomatic, while the second has persistent snoring, nocturnal awakening, sweating, and daytime lethargy. A section of his flap has been recommended. Independent analysis of arterial oxygen saturation revealed that the percentage of time with a saturation of less than 90 percent identifies patients with clinically significant apneas. Our data show that significant sleep apneas following pharyngeal flaps may not be as frequent or permanent as previously reported.(ABSTRACT TRUNCATED AT 250 WORDS)

[Laparoscopic cholecystectomy in a patient with Steinert disease]. / Cholécystectomie par voie laparoscopique chez un sujet atteint d'une maladie de Steinert.

Steinert's disease or myotonic myopathy is associated with chronic restrictive respiratory insufficiency. A case of a patient with Steinert's disease undergoing laparoscopic cholecystectomy, with a full recovery within three days is reported. It is concluded that laparoscopic surgery is a possible therapeutic tool in patients suffering from a myopathy.

[Prolonged respiratory depression following general anesthesia in a patient with dystrophia myotonica].

A case of general anesthesia for a 52 year old female with previously undiagnosed dystrophia myotonica was reported. The patient was diagnosed as flaccid paralysis of the bilateral lower extremities but myotonic symptoms were not found preoperatively. The patient underwent duodenal resection to have a benign tumor removed. Anesthesia was induced with thiamylal 250 mg and pancuronium bromide 4 mg intravenously to facilitate tracheal intubation. Anesthesia was maintained with enflurane (0.6-1.0%) in nitrous oxide (50%) and oxygen (50%). The course of anesthesia was uneventful except for a transient hypotension of 80 mmHg systolic for about 10 minutes. The patient did not recover smoothly from anesthesia and prolonged apnea was observed. 90 minutes after the end of surgical procedure, spontaneous ventilation appeared. Then the tidal volume increased gradually but it still remained around 100-150 ml even 3 hours after the end of the operation. She was on ventilator and observed carefully. The endotracheal tube was removed four days after the operation. The patient was examined again by a neurologist and a final diagnosis of dystrophia myotonica was made. Prolonged recovery from anesthesia and postoperative respiratory depression observed in this patient was due to preoperatively undiagnosed dystrophia myotonica. A careful preoperative examination should be made to minimize possible complication related to anesthesia in the disease.