Girish Baburao Kulkarni

Clinicopathological profile of polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes (POEMS) syndrome

Patients with polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes (POEMS) syndrome caused by underlying plasma cell dyscrasias, although rare, may present with peripheral neuropathy. In this retrospective study we describe the clinical, electrophysiological and pathological profile of 29 patients (27 males and two females, with a mean age of 45.9±7.9 years) seen between 1983 to 2009 who satisfied the Dispenzieri criteria. Polyneuropathy with weakness and paresthesias of the limbs evolving over 8.3±9.1 months, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes were seen in all patients. Other features included pedal edema (25 patients), papilledema (24), weight loss (23), clubbing (20) and Castleman disease (three patients). We report the pathological features seen in nerve biopsies, osteosclerotic lesions, skin biopsies, lymph node biopsies and bone marrow aspirates. We report the method of a diagnosis confirmation and compare the clinicopathological features of our patients with other published series. Our findings highlight the importance of a meticulous systemic examination and systematic laboratory investigations in the diagnosis of POEMS syndrome.

Mortality in mechanically ventilated patients of Guillain Barré Syndrome.

Background: The mortality of patients with Guillain Barré syndrome (GBS) has varied widely with rates between 1-18%. Death results from pneumonia, sepsis, adult respiratory distress syndrome (ARDS) and less frequently due to autonomic dysfunction or pulmonary embolism. There are only few studies which have used a large sample and have in detail analyzed the circumstances relating to death and the prognostic factors for the same in a cohort, including only mechanically ventilated patients. Objective: The objective of our study was to analyze the circumstances and factors related to mortality in mechanically ventilated patients of GBS. Materials and Methods: Case records of patients of GBS, satisfying National Institute of Neurological and Communicative Disorders and Stroke (NINCDS) criteria, and requiring mechanical ventilation from 1984 to 2007, were analyzed. Results: A total of 273 GBS patients were managed with ventilatory support (190 men and 83 women) during the period. Besides symmetrical paralysis in all patients, bulbar palsy was present in 186 (68.1%), sensory involvement in 88 (32.2%) and symptomatic autonomic dysfunction in 72 (26.4%) patients. The mortality was 12.1%. The factors determining mortality were elderly age group (P=0.03), autonomic dysfunction (P=0.03), pulmonary complications (P=0.001), hypokalemia (P=0.001) and bleeding (P=0.001) from any site. Logistic regression analysis showed the risk of mortality was 4.69 times more when pneumonia was present, 2.44 times more when hypokalemia was present, and 3.14 times more when dysautonomia was present. The odds ratio for age was 0.97 indicating that a higher age was associated with a higher risk of mortality. Conclusions: Ventilator associated pulmonary complications, bleeding and hypokalemia especially in elderly patients require optimal surveillance and aggressive therapy at the earliest for reducing the mortality in this group of GBS patients.

Prognosis of patients with Guillain-Barré syndrome requiring mechanical ventilation

INTRODUCTION Severe Guillain-Barré syndrome (GBS) is associated with significant morbidity and also mortality. Identification of modifiable risk factors may help in reducing the morbidity and mortality. OBJECTIVE To study the prognostic factors in a selected cohort of mechanically ventilated GBS patients. MATERIALS AND METHODS Case records of GBS patients requiring mechanical ventilation admitted between 1997 and 2007 were analyzed. All patients satisfied the National Institute of Neurological and Communicative Disorders and Stroke (NINCDS) criteria for GBS. Primary outcome parameters included mortality and GBS disability (Hughes) scale score at discharge. RESULTS During the study period, 173 (118 men and 55 women; mean age of 33.5 ± 21 years) GBS patients were mechanically ventilated. A history of antecedent events was present in 83 (48%) patients. In addition to motor weakness, In all facial palsy was present in 106 (61%), bulbar palsy in 91 (53%), sensory involvement in 74 (43%), and symptomatic autonomic dysfunction in 27 (16%). The overall mortality was 10.4%. On univariate analysis the risk factors for mortality included elderly age (P = 0.014), autonomic dysfunction (P = 0.002), pulmonary complications (P = 0.011), hypokalemia (P = 0.011), and bleeding (P = 0.026). All these factors were significant in multivariate analysis except for bleeding from any site and hypokalemia. In univariate analysis factors associated with Hughes scale score ≤ 3 at discharge included younger age (P = 0.02), presence of bulbar symptoms (P = 0.03) and less severe weakness at admission (P = 0.02), slower evolution of disease over more than 3 days (P = 0.01), electrodiagnostic evidence of demyelinating neuropathy (P = 0.00), and absence of sepsis (P = 0.01), hyperkalemia (P = 0.0001), and anemia (P = 0.02). In multivariate analysis age was the only significant factor. CONCLUSIONS Early identification of modifiable risk factors, such as pulmonary involvement, autonomic dysfunction, hypokalemia, sepsis, bleeding, and nutritional complications, may reduce the mortality and morbidity associated with GBS.

Community-acquired methicillin-resistant Staphylococcus aureus pyomyositis with myelitis: A rare occurrence with diverse presentation

Staphylococcus aureus is the most common bacterial pathogen implicated in pyomyositis. There are increasing reports of community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) infections. The present case report brings out the diverse clinical manifestations of MRSA infection in the form of paraspinal pyomyositis, myelitis, spinal osteomyelitis, and pneumonia. Molecular typing of the organism confirmed the diagnosis. Patient was successfully treated with vancomycin and surgical drainage. Consideration of the possibility of methicillin-resistance and appropriate antibiotic selection is vital in the treatment of serious community-acquired staphylococcal infections.

Genetic variants of vitamin D receptor and susceptibility to ischemic stroke.

Vitamin D receptor (VDR) is a potential candidate for cardiovascular disease. To date the genetic association of VDR with ischemic stroke has not been explored. In the present study we aimed to evaluate the association between VDR gene variants and ischemic stroke in Asian Indian population. Overall, 557 subjects were investigated that included 313 ischemic stroke patients and 244 control subjects. Four single nucleotide polymorphisms of the VDR gene termed as Fok I, Apa I, Taq I and Bsm I were genotyped by using PCR-RFLP method. The genotype distribution of Bsm I polymorphism was found to deviate from the Hardy-Weinberg equilibrium in control subjects, and hence excluded from the study. Apa I and Taq I polymorphisms were not found to be associated with ischemic stroke. However, presence of ff genotype of Fok I was found to confer 2.97-fold risk of ischemic stroke (95% CI=1.16-7.63, P=0.02) as compared to FF genotype. This association was found to be independent of various demographic and important biochemical covariates including age, gender, smoking, alcohol intake, BMI, and serum glucose, lipid profile, insulin and HOMA-IR, 25-hydroxyvitamin D and plasma NOx levels [OR=2.27, 95% CI=1.25-4.09, P=0.01]. However, adjustment for lipid metabolites attenuated the genetic association [OR=1.68, 95% CI=0.75-3.78, P=0.21]. Fok I polymorphism was also found to be associated with total cholesterol levels; ff genotype carriers were found to have significantly higher cholesterol levels (203.56 ± 30.50mg/dl) as compared to FF carriers (177.38 ± 47.90 mg/dl) (P=0.04). On stratification by gender the genetic association between Fok I polymorphism and ischemic stroke remained significant in females only (OR=2.28, 95% CI=1.15-4.53, P=0.02). This genetic association was also found to attenuate on adjustment with lipid variables. In the present study we could associate the only known functional polymorphism of VDR i.e., Fok I, with ischemic stroke in a gender specific manner. Adjustment with lipid variables was found to attenuate this association indicating that impaired lipid metabolism may be the underlying mechanism of action of this polymorphism which leads to an increase in the risk of ischemic stroke. Further larger scale validations in other population are warranted in other population.

Study of sleep microstructure in patients of migraine without aura

PurposeAlthough the relationship between sleep and migraine has been widely reported, studies on sleep microstructure are few. The aim was to study and compare microstructural polysomnographic characteristics in patients of “migraine without aura” (MOA) with controls.MethodsTwenty-five patients of MOA and 25 age- and gender-matched healthy controls were subjected to overnight polysomnography. Microstructural sleep analysis, including arousal and cyclic alternating pattern (CAP) analysis was performed. Arousals and CAP parameters were compared between the two groups using the Mann-Whitney U test (p ≤ 0.05).ResultsThe overall arousal index (p = 0.528) and that during non-rapid eye movement (NREM) sleep (p = 0.503) were comparable between the two groups. However, the arousal index was lower in migraineurs during rapid eye movement (REM) sleep (p = 0.001). The overall CAP rate (p = 0.020) as well as the number of CAP cycles and sequences (p = 0.032) was lower among migraineurs. The total phase A duration (p < 0.0001) was increased, and conversely, phase B duration (p = 0.001) was decreased in migraineurs. The phase A1 duration (p = 0.036) was higher in migraineurs. Finally, phase A1 (p = 0.357) index was comparable, and conversely, A2 (p < 0.0001) and A3 (p = 0.020) indices were decreased in migraineurs.ConclusionsThis study showed a decreased REM arousability as well as a decreased overall CAP rate and CAP cycling in patients with migraine as compared to controls. This indicates that there is probably an alteration of the arousal mechanisms in patients with migraine that may facilitate the occurrence of headache paroxysms during sleep.

Prevalence and sociodemographic correlates of primary headache disorders: results of a population-based survey from Bangalore, India

BACKGROUND Headache disorders are common and burdensome throughout the world, placing high demand on health care services. Good information on their prevalence and distribution through sectors of the population are a prerequisite for planning interventions and organizing services, but unavailable for India. OBJECTIVES To find out the prevalence of headache disorders in Karnataka State and establish important sociodemographic associations. MATERIALS AND METHODS Using a door to door survey technique, amongst 2997 households, 2329 individuals were interviewed with a validated structured questionnaire by randomly sampling one adult member (aged 18-65 years) from eligible households in urban (n = 1226) and rural (n = 1103) areas of Bangalore, during the period April 2009 and January 2010. STATISTICAL ANALYSIS USED Chi-square, odds ratio (OR), and logistic regression. RESULTS The 1-year prevalence of headache was 63.9% (62.0% when adjusted for age, gender and habitation) and 1-day prevalence (headache on the day prior to the survey) was 5.9%. Prevalence was higher in the age groups of 18-45 years, among females (OR = 2.3; 95% confidence interval: 1.9-2.7) and those in rural areas. Prevalence was higher in rural (71.2 [68.4-73.8]) than in urban areas (57.3 [54.5-60.1]) even after adjusting for gender. The proportion of days lost to headache from paid work was 1.1%, while overall productivity loss (from both paid and household work) was 2.8%. CONCLUSIONS Headache disorders are a major health problem in India with significant burden. It requires systematic efforts to organize effective services to be able to reach a large number of people in urban and rural India. Education of physicians and other health-care workers, and the public should be a pillar of such efforts.

Lower motor neuron facial palsy in cerebral venous sinus thrombosis

With advances in the neuro-imaging modalities, diverse manifestations of the cerebral venous sinus thrombosis (CVT) are being recognized. There are very few reports of isolated cranial nerve palsies in CVT. In this case report, we describe a patient of lower motor neuron facial palsy with CVT who was successfully treated with anticoagulation, highlighting the atypical manifestation of the disease.

Elemental mercury poisoning probably causes cortical myoclonus

Mercury toxicity causes postural tremors, commonly referred to as “mercurial tremors,” and cerebellar dysfunction. A 23‐year woman, 2 years after injecting herself with elemental mercury developed disabling generalized myoclonus and ataxia. Electrophysiological studies confirmed the myoclonus was probably of cortical origin. Her deficits progressed over 2 years and improved after subcutaneous mercury deposits at the injection site were surgically cleared. Myoclonus of cortical origin has never been described in mercury poisoning. It is important to ask patients presenting with jerks about exposure to elemental mercury even if they have a progressive illness, as it is a potentially reversible condition as in our patient.

Episodic neurological dysfunction in hereditary peripheral neuropathy

Episodic transient neurological symptoms are an important set of problems presenting to a neurologist in his routine practice. Occasionally, detailed clinical history including past and family history supplemented with focused examination can bring out a rare cause for such symptoms. We describe in this report in a young male presenting with episodic focal neurological dysfunction, with family history of similar episodes in mother and brother. Examination showed features of pes cavus and peripheral neuropathy for which patient was asymptomatic. Mother and brother were established cases of hereditary neuropathy. Imaging on multiple occasions showed reversible white matter abnormalities. Clinical suspicion of X-linked Charcot-Marie-Tooth disease type 1 (CMT1X) was confirmed with detection of mutation in Gap Junction B1 (GJB1) gene, which codes for connexin 32 protein (c.425G>A; p.R142Q hemizygous mutation). Though this mutation has been already reported in CMTX patients, it has not been associated with transient neurological dysfunctions. This is probably the first reported case of CMTX patient with transient neurological dysfunction from India, whose family members had similar episodes.