Anesthetic management for surgery in a nemaline myopathy patient with difficult airway: A CARE-compliant case report.

RATIONALE: Nemaline myopathy (NM) is a congenital disease characterized by nonprogressive or slowly progressing muscle weakness and may increase the risk of anesthesia in case of respiratory muscle or cardiac involvement. Care should be taken to prevent respiratory failure after surgery. PATIENT CONCERNS: A 35-year-old man with NM, who had difficult airway, restrictive ventilatory pattern, and pulmonary hypertension, required general anesthesia for surgery because of limited mouth opening. DIAGNOSES: The patient was diagnosed with NM (ACTA1 mutation) and coronoid hyperplasia. INTERVENTIONS: Awake fiberoptic nasal intubation was performed following preparations for analgesia. General anesthesia was maintained using inhalational anesthetics and opioids without using neuromuscular blocking agents. OUTCOMES: General anesthesia remained well maintained during surgery, with no movement or spontaneous breathing of the patient and he recovered from anesthesia uneventfully without complications. LESSONS: This report highlights the safe performance of anesthesia induction and recovery in a case where anesthesia management is necessary for surgery in a patient of NM at a high risk of anesthesia-related complications.

Adult-onset nemaline myopathy in a dog presenting with persistent atrial standstill and primary hypothyroidism.

A nine-year-old neutered female mixed breed dog presented for evaluation following a five-day history of lethargy, inappetence, weakness, abdominal distension and generalised muscle atrophy. Persistent vatrial standstill with a junctional rhythm was identified on electrocardiogram. Echocardiogram identified moderate dilation of all cardiac chambers and mild thickening of the mitral and tricuspid valves. Serology was negative for Neospora caninum and Toxoplasma gondii. Permanent pacemaker implantation was performed in addition to endomyocardial and skeletal muscle biopsies. Cryosections from the biceps femoris muscle showed numerous nemaline rod bodies while endomyocardial biopsies were possibly consistent with end-stage myocarditis. Rod bodies have rarely been reported in the veterinary literature. To the authors' knowledge, this is the first report of adult-onset nemaline rod myopathy and hypothyroidism with concurrent cardiac disease in a dog.

Nebulin--a giant chameleon.

Nebulin is an enormous protein of the muscle sarcomere. It is a determinant of thin filament length, Z-disk structure and fiber contractility. The nebulin gene contains four regions of alternative splicing, providing a wealth of different isoforms of the protein. The precise function of these numerous isoforms in various types of muscle tissue remains to be elucidated, as does their role in the maintenance of normal muscle strength and activity. Understanding these basic mechanisms is a prerequisite for the development of specific therapies for the disorders caused by mutations in the nebulin gene. Such mutations are the main cause of autosomal recessive nemaline (rod) myopathy, especially of the typical form of this congenital myopathy. Further known disorders caused by nebulin mutations are several other subcategories of recessively inherited nemaline myopathy and a novel distal myopathy caused byhomozygous missense mutations in the nebulin gene. Because of the giant size of the gene, molecular genetic testing methods are difficult to design for routine diagnostic use.

Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia.

In a newborn with severe respiratory failure and abnormal elevation of the right diaphragm, congenital diaphragmatic hernia with sac was diagnosed during surgery. However, microscopic examination of the sac showed atrophic striated muscle cells, indicating eventration instead of hernia. After several extubation failures, the final diagnosis of nemaline myopathy was made by skeletal muscle biopsy. In diaphragmatic defects with sac, diaphragm microscopic analysis should be recommended in order to discriminate between hernia and eventration. Congenital myopathies may underlie such diaphragmatic defects and should be promptly recognized, given their prognostic implications.

Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature.

Heart transplantation was performed in a 26-year-old man who suffered from severe dilatative cardiomyopathy. A nemaline myopathy characterized by the accumulation of Z-line material and the formation of rod-like structures had been diagnosed in the skeletal muscle. Routine light microscopy of the heart disclosed only nonspecific findings. On electron microscopy scattered cardiomyocytes showed formations of rod-like structures and a structural desintegration of contractile filaments near the intercalated disks. Immunocytochemistry at the light and electron microscopical level exhibited an accumulation of alpha-actinin, desmin, and occasionally vinculin in abnormal cardiomyocytes. The rods were specifically stained with alpha-actinin and were less immunoreactive for desmin. No mutations were revealed in the skeletal muscle alpha-actin gene. The results illustrate a complex derangement of the cytoskeletal apparatus in nemaline cardiomyopathy. Nemaline cardiomyopathy may be difficult to diagnose in routine diagnostic procedures. A close correlation between the severity of cardiac dysfunction and the morphological expression of the disease in the heart may not be found. Nemaline cardiomyopathy should be included in the differential diagnosis of dilatative cardiomyopathy and may be diagnosed with certainty by ultrastructural-immunhistochemical investigations.

Rapidly progredient scoliosis associated with multicore disease.

Multicore disease is a rare congenital myopathy that normally stops or makes slow progress. It starts with delayed motor development and frequent falls. Especially the proximal muscles are involved. Other symptoms include contractures of joints, clubfoot, high arched palate, chest deformities, involvement of eye-muscle, cardiac abnormalities, hyperlordosis and scoliosis that normally does not require surgery. We report a rare case of advanced scoliosis in multicore disease requiring operative treatment in a 15-year-old girl. In this case the scoliosis took a rapidly progredient course in puberty close to the end of skeletal growth. A dorsal spondylodesis with USS instrumentation from T9 to L3 was performed. A significant reduction of the scoliosis was obtained. Scoliosis in multicore disease may take a rapidly progredient course. Frequent checks will lead to the initiation of surgical treatment in time.