|Year : 2020 | Volume
| Issue : 2 | Page : 240-243
Nemaline myopathy: a chance diagnosis and management dilemma
Aseem Gargava, Jaspal S Dali, Mona Arya
Department of Anaesthesiology and Intensive Care, Maulana Azad Medical College, New Delhi, India
|Date of Submission||06-Aug-2019|
|Date of Acceptance||29-Dec-2019|
|Date of Web Publication||27-Jun-2020|
MD Aseem Gargava
3/2 Shalimar Sterling Govindpura, Bhopal 462023, Madhya Pradesh
Source of Support: None, Conflict of Interest: None
Nemaline myopathy is one of the most rare muscle disorders and its diagnosis is based on both clinical and histopathological findings in muscle biopsy. Chances of missing the diagnosis are high considering the rarity of the disease. Here, the authors discuss a case of nemaline myopathy which was in fact a chance diagnosis that led to intraoperative changes in the plan of anaesthesia, successfully abetting the complications related to it. Although general anaesthesia has been used in a similar patient population in the past, the authors advocate the use of epidural anaesthesia considering the benefits of the same over the added risks of general anaesthesia.
Keywords: biventricular pacing, dilated cardiomyopathy, graded epidural anaesthesia, nemaline myopathy
|How to cite this article:|
Gargava A, Dali JS, Arya M. Nemaline myopathy: a chance diagnosis and management dilemma. Res Opin Anesth Intensive Care 2020;7:240-3
| Highlights|| |
- Nemaline myopathy is a rare multisystem disorder
- Even after the diagnosis; the management of such patients for anaesthesia is not clear so far
- Depending on the systemic involvement as well as the nature of surgery, the anaesthesia technique should be individualized and carefully instituted.
| Introduction|| |
Nemaline myopathy (NM) is a rare primary skeletal muscle disorder with an incidence of 2/100 000 births. Diagnosis is based on clinical findings of generalized muscle weakness, along with the presence of nemaline (rod) bodies on muscle biopsy. In general, patients with myopathies can present various challenges for the anaesthesiologists such as difficult airway, bulbar or respiratory weakness, and potential for rhabdomyolysis and metabolic stimulation. With this case report, we analyse the anaesthetic considerations for a female patient, a known case of ovarian cancer, posted for staging laparotomy who was later diagnosed as a case of nemaline rod myopathy.
| Case discussion|| |
A 35-year-old woman, a known case of ovarian tumour, planned for staging laparotomy under general anaesthesia with epidural supplementation. History showed that the patient was diagnosed with dialated cardiomyopathy while (DCMP) with a trifascicular block for which biventricular pacing was done 5 years back.
On examination, the patient was conscious and oriented with a pulse of 70/min, and blood pressure of around 90/60 mmHg. No significant abnormality was detected in respiratory and cardiovascular examination as well. However, the patient had a dull, hatchet appearance with drooping of eyelids along with atrophy of the sternocleidomastoid, trapezius, and temporalis muscles ([Figure 1]). She also had a peculiar nasal intonation of voice. Airway examination showed modified mallampati class (MMPC I) with a mouth opening of 6 cm and adequate range of neck motion; however, she was edentulous ([Figure 2]).
|Figure 1 Image describing the charachterstic appearance of a patient with nemaline myopathy having droooping eyelids and atrophy of the sternocleidomastoid.|
Click here to view
Preoperative investigations including blood count, urea, serum electrolytes, and prothrombin time were all normal. Pulmonary function studies showed a mild restrictive defect with normal blood gases. However, ECG ([Figure 3]) showed right bundle branch block with left axis deviation along with third degree block. Echocardiography reports stated severe left ventricular systolic dysfunction with an ejection fraction of 35%(5 years back), which improved to 50% postpacing (recent echo).
|Figure 3 ECG showing the right bundle branch block, left axis deviation, and third-degree heart block suggesting a trifascicular block.|
Click here to view
The patient was posted for surgery with a cardiologist on standby for assessing the functioning of the pacemaker and subsequent management. However, when the patient was shifted inside the operation theatre, she was very drowsy but arousable with stable vitals, but the oxygen saturation was quiet low (75% on room air which increased to 85–90% on a Venturi mask with FIO2 of 0.5). An arterial blood gas analysis was done which showed hypoxia with hypercarbia and mild respiratory acidosis (pH: 7.3/PO2 86.9/PCO2: 45.8/SO2: 96.2/HCO−3: 26.3). The cardiologist ruled out any cardiovascular cause for the same. The case was deferred that day in view of unexplained hypoxia and a neurologist’s opinion was sought. On constant prodding, she gave a history of generalised weakness but was able to do day-to-day activities. Electromyography and nerve conduction studies were done which suggested muscular dystrophy and probable differentials made were NM, facioscapulohumeral dystrophy, paraneoplastic dystrophy or myotonic dystrophy. The precipitating cause for hypoxia was probably tablet alprazolam 0.25 mg received at night before the surgery in the ward as advised by the gynaecologist (considering it as a routine case), which led to type II respiratory failure. On the basis of clinical findings ([Table 1]) provisional diagnosis of NM was made. This was later on confirmed by muscle biopsy which showed the presence of characteristic nemaline bodies supporting the provisional diagnosis.
|Table 1 Differential diagnosis for myopathies (reference: Harrison 18th edition)|
Click here to view
After final diagnosis, the patient was posted for surgery and no premedication with benzodiazepines or opioids were given this time. Our plan was to provide graded lumbar epidural anaesthesia (with supplementation of oxygen and N2O) and if required to provide general anaesthesia as a backup plan.
After securing a wide-bore intravenous access and coloading the patient with Ringer’s lactate (2 ml/kg), under standard monitoring and oxygen supplementation by a Venturi mask (0.45 FiO2), epidural catheter was inserted in the L2–3 space and fixed at 8 cm. Test dose confirmation with lignocaine and adrenaline was done, followed by supplementation of 5 ml of bupivacaine (0.5%) at 10 min interval for three repeated doses till anaesthesia till T8 (sensory) was achieved. Surgery was started and the whole procedure was completed within 2.5 h with insignificant blood loss (150–200 ml) and haemodynamic disturbances. Additional supplementation of 5 ml of bupivacaine (0.5%) was given at 1.5 h after the initiation of surgery.
| Discussion|| |
Nemaline rod myopathy also known as NM is a rare and phenotypically diverse inherited congenital myopathy first described in 1963 by Shy and Angel . The genetic makeup of NM is well described. Majority cases are sporadic (63%), while the hereditary ones have autosomal recessive (24%) more than dominant (13%) variety .
Clinically, it is a continuum of disease manifestations ranging from mild to severe. Patients with NM may have nonprogressive myopathy, feeding difficulties, and proximal muscle weakness. Children are physically underdeveloped, with small muscles and thin limbs . Bulbar muscle involvement may lead to risk of aspiration and dysphagia. Respiratory muscle may get involved and ranges from mild impairment with independent respiratory function to severe failure and complete ventilator dependence. The patient may have dysmorphic facial features which include micrognathia or prognathia, limited mouth opening and a high arched palate. Chest deformities such as pectus excavatum, kyphosis, scoliosis, and pes cavus may be present. The extremities may show joint contractures and talipes. Anaesthetic management for such patients is usually guided by understanding their underlying pathophysiology. Facial dysmorphisms are common which may lead to airway difficulties ,. Moreover, underlying pulmonary dysfunction, respiratory muscle weakness, and chest wall deformity in the form of kyphoscoliosis may lead to respiratory compromise and failure. In fact, pulmonary dysfunction and infections are the leading causes of death in patients with NM . Cardiac involvement, although infrequent, should be actively sought because of significant related morbidity and mortality ,,. Myocardial involvement may lead to pulmonary hypertension, cor pulmonale, and cardiomyopathy ,. Therefore, the choice of anaesthesia technique, from induction till emergence, needs to be carefully considered and thought out, including the need of muscle relaxation and type of relaxants to be used. A preoperative consultation with an anaesthesiologist is very important during which, a thorough review of the patient’s problems with special attention to the cardiopulmonary system and airway is critical. Pulmonologists should be consulted for optimization of pulmonary function prior to surgery in patients with significant pulmonary involvement. Similarly, consultation with a cardiologist is warranted for cardiac optimization and check for the functioning of devices like pacemakers in patients with known cardiac involvement.
In terms of investigations, further echocardiogram, electrocardiogram, arterial blood gas, and pulmonary function test may be indicated. Some patients may have elevated serum creatinine level, so a preoperative baseline determination might be beneficial. Blood count and serum chemistry are appropriate before a major surgery.
Neuraxial techniques have been used successfully in patients with NM. However, these patients as discussed before, often have bone deformities, contractures, and scoliosis; and thus neuraxial and regional procedures may be difficult to perform. Wherever possible, the use of ultrasound is advised. Moreover, techniques that cause diaphragmatic weakness and other respiratory muscle impairment must be undertaken with proper caution.
Thus, we see that diagnosis and management of patients with NM is challenging. Increased sensitivity to all anaesthetic agents makes general anaesthesia difficult. In our case, it was advised by the neurologist to not administer any opioids, benzodiazepines, inhalational agents such as sevoflurane, isoflurane, etc. and muscle relaxants (succinylcholine and long-acting nondepolarizing muscle relaxants). Drugs like propofol and thiopentone are risky considering that the patient had dilated cardiomyopathy with low ejection fraction. The same problem lies with the subarachnoid block as the sudden hemodynamic changes might not be tolerable for such cardiology profile. A systematic review of the literature has been done in the past by Tran and Smith , which showed that in majority of cases reported, general anaesthesia has been the approach of choice. Out of 159 cases reported since 1983 till 2017, only three cases were described to receive neuraxial blocks . However, we felt that due to multisystem involvement, regional anaesthesia offers a safe alternative wherever feasible.
Weighing the risk of difficult postoperative extubation against the cardiology profile, and due to the increased sensitivity to benzodiazepines, opioids and depolarising muscle relaxants, we planned to give graded epidural anaesthesia and supplement with general anaesthesia using the limited armamentarium of drugs such as nitrous oxide, dexmedetomidine and etomidate. Although many cases of NM have been described in the past, management of each case must be individualised. Considering the rarity of this disorder and lack of literature related to the use of regional anaesthesia in such patients, reporting of such case holds an important aspect.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Shy GM, Engel WK, Somers JE, Wanko T. Nemaline myopathy.A new congenital myopathy. Brain 1963; 86:793–810.
Wallgren-Pettersson C, Pelin K, Hilpela P, Donner K, Porfirio B, Graziano C et al.
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscul Disord 1999; 9:564–572.
Klingler W, Rueffert H, Lehmann-Horn F, Girard T, Hopkins PM. Core myopathies and risk of malignant hyperthermia. Anesth Anal 2009; 109:1167–1173.
Stackhouse R, Chelmow D, Dattel BJ. Anesthetic complications in a pregnant patient with nemaline myopathy. Anesth Anal 1994; 79:1195–1197.
Cunliffe M, Burrows FA. Anaesthetic implications of nemaline rod myopathy. Canadian Anaesth Soc J 1985; 32:543–547.
Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST et al.
Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001; 50:312–320.
Finsterer J, Stollberger C. Review of cardiac disease in nemaline myopathy. Pediatr Neurol 2015; 53:473–477.
D’Amico A, Graziano C, Pacileo G, Petrini S, Nowak KJ, Boldrini R et al.
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. Neuromusc Disord 2006; 16:548–552.
Finsterer J, Frank M. Potential causes of sudden cardiac death in nemaline myopathy. Italian J Pediatr 2015; 41:67.
Marseglia L, D’Angelo G, Manti S, Salpietro V, Arrigo T, Cavallari V et al.
Sudden cardiac arrest in a child with nemaline myopathy.Italian J Pediatr 2015; 41:20.
Tran NH, Smith D. Anesthetic consideration for patients with nemaline rod myopathy: a literature review. Pediatr Anesth Crit Care J 2017; 5:31–39.
[Figure 1], [Figure 2], [Figure 3]