Myopathies of endocrine disorders: A prospective clinical and biochemical study.

INTRODUCTION: MAJOR CATEGORIES OF ENDOCRINE MYOPATHY INCLUDE THOSE ASSOCIATED WITH: Adrenal dysfunction (as in Cushing's disease or steroid myopathy); thyroid dysfunction (as in myxedema coma or thyrotoxic myopathy); vitamin D deficiency; parathyroid dysfunction; and pituitary dysfunction. Steroid myopathy is the most common endocrine myopathy. OBJECTIVE: To study the etiology, varied presentations, and outcome after therapy of patients with endocrine myopathies. MATERIALS AND METHODS: MYOPATHY WAS EVALUATED BY THE STANDARD CLINICAL PROCEDURES: Detailed clinical history, manual muscle strength testing, and creatine phosphokinase (CPK). Endocrine disorders were diagnosed as per clinical features and biochemical parameters. The treatment was given to patients as per underlying endocrine disease. Myopathy was assessed before and after treatment. RESULTS: Out of the 37 patients who were diagnosed with endocrine myopathies, thyroid dysfunction was the most common cause (17 cases), followed by vitamin D deficiency in nine, adrenal dysfunction in six, parathyroid dysfunction in three, and pituitary dysfunction in two. Some patients had atypical presentation (repeated falls in one, tongue fasciculations in one, neck weakness in five, one with ptosis and facial weakness, asymmetrical onset in one, and calf hypertrophy in one. The serum creatine kinase (CK) concentration did not correlate with muscle weakness. Following the treatment regimen which was specific for a given myopathy, 26 patients recovered fully. CONCLUSION: We found varied clinical presentations of endocrine myopathies. All the patients with neuromuscular complaints should be investigated for endocrine causes because significant number of them recovers fully with specific treatment.

Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India.

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that affects 1 in 3,500 males and is caused by mutations in the dystrophin gene. In this paper, we have reported DNA analysis of DMD patients by multiplex polymerase chain reaction (PCR) from various states of northeast India. Of the 69 clinically suspected patients of DMD, deletion was detected by multiplex PCR in 49 (71%) patients. Majority of the deletions (42/49, 85.7%) were located at distal hot spot region that encompasses exons 44-55 and 14.3% of the deletions were located at the proximal hot spot region (exons 2-19). In this study population, the deletion rate was 71% and was more frequent in the distal end exon.

Etiological profile of epilepsia partialis continua among adults in a tertiary care hospital.

BACKGROUND: Epilepsia partialis continua (EPC), is a subtype of status epilepticus, have a varied spectrum of etiology and the out-come depends on the etiology. AIMS AND OBJECTIVES: The present study is aimed to analyze the clinical characteristics and outcome. MATERIALS AND METHODS: This is a prospective analysis of 17 patients admitted to our center between August 2010 and April 2012. EPC was defined as regular or irregular clonic muscular twitches affecting a limited part of the body, occurring for a minimum of 1 h, and recurring at intervals of no more than 10 s. The data collected included etiology, radiological findings, electroencephalogram (EEG) abnormalities, associated comorbid conditions, and outcome. RESULTS: The mean age at presentation was 44.26 ± 13.77 years and the mean duration was 2.7 ± 1.5 days. There were ten patients with diabetic non-ketotic hyperosmolar state and one patient each of oligodendroglioma, varicella zoster vasculitis, central nervous demyelination, ischemic stroke, post traumatic seizure, arteriovenous malformation, and in one patient no cause could be established. Imaging showed abnormality only in five patients and EEG was abnormal in four patients. The EPC was controlled by one antiepileptic drug (AED) in eight patients, with two AEDs in seven patients and two patients required three AEDs. CONCLUSION: EPC is a rare type of focal motor status epilepticus. Treatment of the underlying cause in addition to controlling EPC is essential to achieve the good outcomes.

Clinical and radiological spectrum of Japanese encephalitis.

INTRODUCTION: Japanese encephalitis (JE) is mosquito-borne flaviviral encephalitis that remains to be a major health problem in India--it still continues to cause havoc in many parts of the country. We undertook the study to analyze the clinical and radiological spectrum of JE in adults and children. METHOD: This prospective study consists of 148 patients with JE. The diagnosis of JE was based on clinical, epidemiological, radiological features and demonstration of JE virus specific IgM in CSF and serum by JE virus immunoglobulin M capture enzyme-linked immunosorbent assay (MAC ELISA). All patients underwent a detailed neurological examination, CSF study & neuroimaging of brain (either CT or MRI or both). All patients were followed-up at regular interval. RESULT: Seizures were present in adults (52.88%) and in children (43.18%). Dystonia was more common in children 19 (43.18%) compared to adults 19 (18.2%), and Parkinsonian features were observed in both groups 47 (45.19%) of the adults and 20 (45.45%) of the children. JE-specific IgM antibody was detected in both CSF and serum in 81.7%. In neuroimaging, apart from classical involvement of thalami, basal ganglia & midbrain, prominent involvement of hippocampus and other areas of the cortex was also found in 27 (45.6%) patients. Presence of thalamic lesion in CT/MRI showed significant relationship to the development of dystonia. However, no correlation was found between the neuroimaging features and poor clinical outcome. Twenty three patients (15.5%) died during acute phase of illness. On multivariate logistic regression analysis age, prolonged fever, Glasgow coma scale, recurrent seizures and reflex changes were found to be the predictors of outcome at the time of discharge. CONCLUSION: A trend of severe and frequent involvement in younger patients with dystonia and other movement disorders was observed. It should be emphasized that presence of atypical cranial CT/MRI features in JE was not unknown and they need to be differentiated from herpes simplex encephalitis in appropriate clinical setting.