Incidental raised transaminases: a clue to muscle disease

Twenty-one patients with incidental hypertransaminasaemia who were eventually diagnosed as muscular dystrophy are described. There were two females and 19 males aged between 2 and 11 years [mean (SD) 6.7 (3.4) y]. Serum alanine and aspartate transaminase levels were between 73 and 595 IU/L (30-35) and 68 and 550 IU/L (30-35), respectively. Muscle disease was suspected when creatine phosphokinase levels were elevated and confirmed in each patient by muscle biopsy. The time interval between incidental hypertransaminasemia and the diagnosis of muscle disase was between 3 and 12 months. Eleven patients were diagnosed as Becker's muscle dystrophy, eight as Duchenne muscle dystrophy and two had sarcoglycanopathy. Long-term elevation of transaminase levels might be a sign of occult muscle disease. Invasive tests such as liver biopsy should not be performed in patients with unexplained hypertransaminasaemia without first determining creatinine phosphokinase levels

Natural history of SMA IIIb - Muscle strength decreases in a predictable sequence and magnitude

Objective: To assess the natural progression of muscle weakness in spinal muscular atrophy (SMA) IIIb

Thymoma appearing 10 years after an extended thymectomy for myasthenia gravis

Occurrence of thymoma after an extended thymectomy through a full median sternotomy for nonthymomatous thymectomy has been very rarely reported. A 60-year-old mate patient who had myasthenia gravis (MG) for 11 years had an extended thymectomy operation with a pathology of thymic hyperplasia and developed a mass in the aortopulmonary window. We resected the mass via anterior left thoracotomy by dividing the ductus arteriosus and mobilizing the aorta. Cord vocal augmentation procedure was done due to the resection of the left recurrent laryngeal nerve. (C) 2008 European Association for Cardio-Thoracic Surgery. Published by Elsevier B.V. All, rights reserved

Evaluation of Biventricular Functions With Tissue Doppler Imaging in Patients With Myotonic Dystrophy

Background: Myotonic dystrophy (MD) is characterized by myotonia with dystrophic involvement of the muscles. Cardiac involvement is usually not evident in the early stages of MD

An Unusual Coincidence of Subacute Sclerosing Panencephalitis and Duchenne Muscular Dystrophy

A 4 year old boy presented with myoclonic seizures, drop attacks and decrease in mental functions. Cranial MRI was normal. EEG revealed periodic slow wave complexes and subsequent CSF analysis showed positive antimeasles IgG. CPK was also markedly abnormal (10.000 u/L). Muscle biopsy and genetic analysis displayed the presence of DMD. The case was interpreted as an unusual coincidence of SSPE and DM

Camptocormia in a patient with Parkinson disease and a myopathy with nemaline rods

Camptocormia, also referred to as bent spine, is a gait disorder characterized by hyperflexion of the thoracolumbar spine that develops in recumbent position while walking and that disappears in supine position. Myopathy is one of the frequent causes of camptocormia. A 77-yr-old male patient who was followed up with the diagnosis of rheumatoid arthritis for 2 yrs was admitted with progressive gait deterioration. Hyperflexion of trunk, disappearing in supine position, was detected and diagnosed as camptocormia. He also exhibited the signs of parkinsonism. A paraspinal muscle biopsy showed myopathy with rods in many muscle fibers. Camptocormia in this patient may be attributable to the myopathic weakness of thoracolumbar paraspinal muscles. The normal biceps brachii muscle biopsy refers to the isolated affection of paraspinal muscles in this patient. A camptocormia (bent spine) case of myopathy with nemaline rods associated with Parkinson disease is presented