Clinical and radiological spectrum of intracranial tuberculosis: A hospital based study in Northeast India.

Central nervous system tuberculosis (TB) is the most severe extra pulmonary TB having a high mortality and morbidity. OBJECTIVE: To study the various clinical, biochemical, and radiological spectrum of intracranial TB. MATERIALS AND METHOD: Ninety-three patients were enrolled in this prospective study after ethical clearance and consent from August 2013 to May 2015. The entire clinical course with complications and predictors of mortality were assessed. RESULTS: 36 females (38.7%) and 57 males (61.3%) were included whose mean age of presentation was 32.3±17.05 years. Alcohol was the most common risk factor seen in 19.4%. Headache (90.3%) was the most common symptom. Co-infection with human immunodeficiency virus, cryptococcal, and toxoplasmosis were seen in 11, 3, and 2 patients, respectively. Cerebrospinal fluid analysis showed acid-fast bacilli in 1 patient; polymerase chain reaction for TB and BACTEC was positive in one and three patients, respectively. Neuroimaging showed basal exudates (21.7%), tuberculoma (28.6%), brain edema (27%), hydrocephalus (32.9%), infarct (21%), and abscess (2.9%). Complications were noted such as brain edema (24.7%), vasculitis (26.9%), hydrocephalus (17.2%), hyponatremia (11.8%), drug-induced hepatitis (4.3%), and drug rash in 5 patients (5.4%). A total of 25 patients (26.9%) died and 38 patients (40.9%) developed neurological sequelae like hemiparesis, paraparesis, visual loss, and hearing loss. Logistic regression showed that a Glasgow scale of <10, British Medical Research Council stage 3, and vasculitis were associated with poor outcome. CONCLUSION: Lack of sensitive diagnostic method and criteria makes central nervous system TB a challenge where early diagnosis and prompt management is required.

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.

Varied presentations of moyamoya disease in a tertiary care hospital of north-east India.

INTRODUCTION: Moyamoya disease is a chronic progressive cerebrovascular disorder, characterized by stenosis or occlusion of bilateral internal carotid arteries (ICAs), anterior cerebral arteries (ACAs) and middle cerebral arteries (MCAs), accompanied by a collateral network of vessels formed at the base of the brain. Ischemia and intracranial hemorrhage are the common typical manifestations. However moyamoya disease has been associated with atypical presentations like headache, seizures and involuntary movements. Although frequently reported from Asian countries like Japan, China and Korea, only few studies reported on clinical manifestations of moyamoya disease from India. OBJECTIVES: To study the varied presentations of moyamoya disease in a tertiary care hospital of north-east India. MATERIAL AND METHODS: Relevant investigations were done to rule out other causes of moyamoya syndrome. RESULTS: We report 6 cases of moyamoya disease with varied presentations from a tertiary care referral government hospital. Case 1, 2 and 6 presented with alternating hemiparesis. Case 3 had amaurosis fugax. Case 4 had history suggestive of ischemic stroke and presented with hemichorea. Case 4 had focal seizure as the only manifestation. Cases 4 and 5 notably had stenosis of posterior cerebral artery (PCA) in addition to stenosis of bilateral ICAs, ACAs and MCAs. CONCLUSION: Owing to its low incidence in India, moyamoya disease is easily overlooked as a possible diagnosis. However, because of its progressive nature, it is imperative to diagnose this disease early and offer surgical treatment to the patients.

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.

Clinical and biochemical spectrum of hypokalemic paralysis in North: East India.

BACKGROUND: Acute hypokalemic paralysis, characterized by acute flaccid paralysis is primarily a calcium channelopathy, but secondary causes like renal tubular acidosis (RTA), thyrotoxic periodic paralysis (TPP), primary hyperaldosteronism, Gitelman's syndrome are also frequent. OBJECTIVE: To study the etiology, varied presentations, and outcome after therapy of patients with hypokalemic paralysis. MATERIALS AND METHODS: All patients who presented with acute flaccid paralysis with hypokalemia from October 2009 to September 2011 were included in the study. A detailed physical examination and laboratory tests including serum electrolytes, serum creatine phosphokinase (CPK), urine analysis, arterial blood gas analysis, thyroid hormones estimation, and electrocardiogram were carried out. Patients were further investigated for any secondary causes and treated with potassium supplementation. RESULT: The study included 56 patients aged 15-92 years (mean 36.76 ± 13.72), including 15 female patients. Twenty-four patients had hypokalemic paralysis due to secondary cause, which included 4 with distal RTA, 4 with Gitelman syndrome, 3 with TPP, 2 each with hypothyroidism, gastroenteritis, and Liddle's syndrome, 1 primary hyperaldosteronism, 3 with alcoholism, and 1 with dengue fever. Two female patients were antinuclear antibody-positive. Eleven patient had atypical presentation (neck muscle weakness in 4, bladder involvement in 3, 1 each with finger drop and foot drop, tetany in 1, and calf hypertrophy in 1), and 2 patient had respiratory paralysis. Five patients had positive family history of similar illness. All patients improved dramatically with potassium supplementation. CONCLUSION: A high percentage (42.9%) of secondary cause for hypokalemic paralysis warrants that the underlying cause must be adequately addressed to prevent the persistence or recurrence of paralysis.

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.

A case of Spinocerebellar Ataxia from ethnic tribe of Assam.

Here we present the case of a 17-year-old girl belonging to an ethnic tribe (Bodo tribe) of Assam, presenting with bilateral cerebellar signs and with history suggestive of an autosomal dominant pattern of inheritance, who was found to have spinocerebellar ataxia 7 on genetic testing. This case throws light on the probability of more such cases in the multi-ethnic society of the North-Eastern Indian states, which are not studied or reported till date.

Clinical spectrum of neurosyphilis in North East India.

BACKGROUND: Symptomatic neurosyphilis (NS) can have varied syndromic presentations: Meningitis, meningovascular and parenchymatous involvement. AIMS: To evaluate the different types of clinical syndrome of NS in a tertiary care hospital. MATERIAL AND METHODS: This was a study of clinical profile of 16 patients with NS, seen in between August 2008 and December 2010. RESULTS: There were 13 male and 3 female patients in the age group of 23-48 years. The clinical syndromes included: Neuropsychiatric syndromes (10), myelopathy (5), and posterior circulation stroke (1). Neuropsychiatric symptoms were dementia, behavioral abnormalities, chronic psychosis, and myelopathy syndromes included acute transverse myelitis (ATM), chronic myelopathy, and syphilitic amyotrophy. Thirteen patients had positive venereal disease research laboratory test (VDRL) and/or high Treponema pallidum hemagglutination titer in blood. Cerebrospinal fluid was positive for VDRL in 14 patients, raised protein was seen in 13 patients and lymphocytic pleocytosis was seen in 10 patients. Human immunodeficiency virus serology was negative in all the patients. Fourteen patients fulfilled the criteria of definitive NS and two of presumptive NS. All the patients except one received injection Procaine penicillin for 14 days. The patient with myelitis received a course of steroid, and one patient with associated hypothyroidism received thyroid supplement in addition to penicillin. On follow-up, dementia of short duration and ischemic stroke improved significantly and clinical status remained the same for ATM; others with mild symptoms improved with residual deficit. CONCLUSION: Syphilis can affect any part of the neuraxis. A high index of clinical suspicion is required to diagnose NS and institute the treatment early, particularly in patients with promiscuous sexual behavior.