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Biomedical subjects

G R Arunodaya

Publications and source records attributed to G R Arunodaya.

At least 19 recordsLinked to original sources
PubMed2006

Wilson's disease: cranial MRI observations and clinical correlation.

INTRODUCTION: Study of MRI changes may be useful in diagnosis, prognosis and better understanding of the pathophysiology of Wilson's disease (WD). We aimed to describe and correlate the MRI abnormalities of the brain with clinical features in WD. METHODS: MRI evaluation was carried out in 100 patients (57 males, 43 females; mean age 19.3+/-8.9 years) using standard protocols. All but 18 patients were on de-coppering agents. Their history, clinical manifestations and scores for severity of disease were noted. RESULTS: The mean duration of illness and treatment were 8.3+/-10.8 years and 7.5+/-7.1 years respectively. MRI of the brain was abnormal in all the 93 symptomatic patients. The most conspicuous observations were atrophy of the cerebrum (70%), brainstem (66%) and cerebellum (52%). Signal abnormalities were also noted: putamen (72%), caudate (61%), thalami (58%), midbrain (49%), pons (20%), cerebral white matter (25%), cortex (9%), medulla (12%) and cerebellum (10%). The characteristic T2-W globus pallidal hypointensity (34%), "Face of giant panda" sign (12%), T1-W striatal hyperintensity (6%), central pontine myelinosis (7%), and bright claustral sign (4%) were also detected. MRI changes correlated with disease severity scores (P<0.001) but did not correlate with the duration of illness. CONCLUSION: MRI changes were universal but diverse and involved almost all the structures of the brain in symptomatic patients. A fair correlation between MRI observations and various clinical features provides an explanation for the protean manifestations of the disease.

Adolescent↗
PubMed2006

Adult onset subacute sclerosing panencephalitis: clinical profile of 39 patients from a tertiary care centre.

Clinical and laboratory characteristics of 39 patients with adult onset subacute sclerosing panencephalitis (SSPE) are described and compared to those of juvenile onset patients regarding preceding measles, age at onset, gender, interval between onset and diagnosis, clinical profile, and course during follow up. Diagnosis was based on clinical and electroencephalographic findings and raised anti-measles antibody titres in cerebrospinal fluid. Mean age at SSPE symptom onset was 20.9+/-4.9 years and mean interval from onset to diagnosis was 6.3+/-9.6 months. Referral diagnosis was accurate in only 12 patients. Presenting symptoms included myoclonus, behavioural changes, seizures, and cognitive, visual, and extrapyramidal disturbance. All patients received symptomatic therapy; 19 also received disease modifying agents. Five of seven pregnant women had successful deliveries. The follow-up period varied widely (maximum 60 months, median 9 months). The profile of adult onset SSPE did not differ from the rest of the cohort, except for a longer interval between measles infection and symptom onset (p<0.0001). SSPE in adults poses diagnostic challenges for clinicians. A high index of suspicion and appropriate investigations are necessary for early diagnosis and counselling.

Adolescent↗
PubMed2006

Hepatic myelopathy: a rare complication following extrahepatic portal vein occlusion and lienorenal shunt.

A 19-year-old gentleman presented with slowly progressive spastic paraparesis, 2 years after the therapeutic lienorenal shunt for portal hypertension secondary to cirrhosis and portal vein occlusion. After 2 years of initial evaluation, the motor functions had not worsened further. He did not have any obvious clinical or EEG features of hepatic encephalopathy. Other causes for myelopathy were ruled out. Contribution of portal vein occlusion to portosystemic shunting has not been reported previously in patients with 'hepatic myelopathy.' This uncommon complication needs to be considered in patients with shunt surgery for relieving portal hypertension.

Adult↗
PubMed2005

Prognostic factors in patients presenting with severe neurological forms of Wilson's disease.

BACKGROUND: Wilson's disease (WD), a metabolic disorder, is believed to be potentially reversible, even in its severe form. However, some patients do not respond to treatment. AIM: To analyse prognostic factors in severe WD. DESIGN: Retrospective audit. METHODS: A total of 140 patients were regularly followed from February 2002 to May 2004. Twenty-nine (18 males, 11 females) had severe disease, as defined by Modified Schwab and England Activities of Daily Living score (MSEADL) of < or=50% or Chu stage of 3. We analysed their clinical, laboratory and MRI features with respect to prognosis. RESULTS: For the severe form, mean age at symptom onset was 11.5 +/- 6.4 years, and at diagnosis, 13.3 +/- 7.0 years. Mean Neurological Symptom Score (NSS), Chu stage, and MSEADL were 26.5 +/- 8.2, 2.7 +/- 0.5 and 24.8 +/- 17.4, respectively. Twenty-one patients underwent MRI; 14 had repeat MRI. Following treatment, 14 (group A) had progressive worsening, including death in two, while 15 (group B) had sustained clinical improvement. Baseline demographic, clinical and laboratory features and MRI scores did not significantly differ between the two groups. However, diffuse white-matter abnormalities were more extensive in group A. Full-dose initial penicillamine therapy could have contributed to worsening in four patients. Drug compliance was poor in both groups but resumption of treatment did not benefit patients in group A. Serial MRI showed regression of lesions only among patients with clinical improvement. DISCUSSION: Severe WD remains a therapeutic challenge, with early diagnosis and treatment are essential. Specific MRI observations, a 'start low-go slow' regimen for penicillamine, and compliance may have prognostic significance. In absence of clinical predictors, genetic attributes need to be explored.

Adolescent↗
PubMed2005

Neurological manifestations of Ehlers-Danlos Syndrome.

Ehlers-Danlos Syndrome (EDS) is more identified for its cutaneous features but its neurological manifestations have not received the focused attention. Four patients of Ehlers-Danlos Syndrome (EDS) with neurological manifestations were evaluated for phenotypic data. These four men were from three families and two had consanguineous parentage. The mean age at onset and presentation of neurological symptoms were 10.5 years and 19 years respectively. Patient 1 presented with bilateral optic atrophy, sensorineural deafness, cerebellar ataxia and neuropathy. Patient 2 had marfanoid habitus, chorea and cerebellar ataxia. Patient 3 had action and percussion myotonia, wasting and weakness of sternocleidomastoid and distal limb muscles. Patient 4 had action myotonia, mirror movements of both hands and neuropathy. MRI of brain showed right parietal polymicrogyria. Neuroaxis involvement at multiple levels in EDS may have prognostic significance.

Adolescent↗
PubMed2004

Is low serum tocopherol in Wilson's disease a significant symptom?

BACKGROUND: Free radical mediated injury is increasingly recognized in many metabolic diseases including Wilson's disease (WD). Use of antioxidants as an adjunctive therapy in WD may have therapeutic significance. AIM: The aim of the study was to correlate serum levels of tocopherols with serum copper and ceruloplasmin and clinical status of these patients. METHODS: Serum levels of tocopherol of were measured spectrophotometrically using the Emmerie-Engel reaction in 34 patients from a large cohort of WD being followed up at a tertiary care center. RESULTS: Majority of patients were male (M/F=23:11). The mean serum copper was 43.6+/-26.2 microg/dl (range=10-121 microg/dl) and serum ceruloplasmin was 5.6+/-5.5 mg/dl (range=0-30 mg/dl). The mean serum tocopherol level was 0.68+/-0.18 mg/dl (range=0.23-1.14 mg/dl) and compared to the control (1.07+/-0.17 mg/dl), nearly 59% of patients had decreased levels (p<0.001). No significant correlation was noted between low serum tocopherol levels and serum copper levels, Mini Mental Status Examination (MMSE) scores and CHU staging. However, serum tocopherol levels were lower in patients with relatively short duration of treatment (7.8 years vs. 12.4 years). CONCLUSION: Decreased levels of serum tocopherol were detected in 59% of patients compared to controls. However, low tocopherol levels did not correlate with clinical status or biochemical parameters of WD, except for relatively shorter duration of treatment. Further studies, especially in newly diagnosed patients, need to be done to validate the role of low tocopherol levels in Wilson's disease.

Adolescent↗
PubMed2004

HIV-1 clade-C-associated "ALS"-like disorder: first report from India.

A patient of ALS-like disorder in an HIV-1 clade-C-infected heterosexual male is being reported. A 37-year-old gentleman presented with subacute, progressive asymmetrical onset of weakness and wasting of upper limbs associated with brisk muscle stretch reflexes and without any sensory or sphincter involvement. While nerve conduction tests were normal, the EMG of proximal and distal limb muscles on both sides revealed evidence of denervation and reinnervation. Routine blood and urine tests and investigations for underlying causes of motor neuron disease were noncontributory. He was HIV-1, subtype clade C seropositive. A diagnosis of HIV-related anterior horn cell disease was considered and zidovudine, lamivudine and nevirapine were started. After 1 month, there was a subjective improvement of 10% and objective improvement in strength of muscles of proximal upper limb on both sides by one grade power on MRC scale. Reports of amyotrophic lateral sclerosis (ALS)-like illness in HIV are sparse. The reversibility of "ALS"-like features in this subgroup of patients might offer an insight into the pathogenesis of amyotrophic lateral sclerosis. This is a first report of ALS-like illness caused by subtype C of HIV-1 strain.

Adult↗
PubMed2004

Successful pregnancies and abortions in symptomatic and asymptomatic Wilson's disease.

BACKGROUND: There are only a few reports regarding the fertility and outcome of pregnancy in Wilson's disease (WD) and none from India. The authors in this study discuss various aspects of fertility in 16 women with WD. METHODS: Retrospective analysis of data from a large cohort of WD, being followed at a tertiary care center. RESULTS: Sixteen patients had conceived on 59 occasions with 30 successful pregnancies, 24 spontaneous abortions, 2 medical terminations of pregnancy and 3 still births. Diagnosis of WD was established after conception in 10 presymptomatic patients while six patients were already on treatment. Among these 16 patients, 9 had history of spontaneous abortions and 12 had successful pregnancies. None of the clinical features of WD changed during pregnancy, with or without treatment. All the 30 babies were full-term and delivered healthy. CONCLUSION: Recurrent abortions are common especially in women with untreated Wilson's disease. However, successful pregnancies and uneventful full-term delivery may occur in mothers of WD on treatment and in undiagnosed, undetected presymptomatic patients. Pregnancy does not seem to have adverse effect on the clinical course of Wilson's disease. Teratogenecity was not seen in the present series with low-dose penicillamine and zinc sulphate.

Abortion, Induced↗
PubMed2004

Wilson's disease: diagnostic errors and clinical implications.

BACKGROUND: Therapeutic outcome of Wilson's disease (WD) significantly depends upon its early recognition. However, because of its rarity in community and protean manifestations, the diagnosis and treatment are often delayed. AIM: To ascertain diagnostic errors at initial evaluation in these patients. METHODS: Analysis of medical records of 307 patients of WD registered over 30 years was done regarding presenting manifestations, initial diagnostic omissions, and interval between onset of symptoms to diagnosis and treatment. RESULTS: Of the 307 patients of WD diagnostic errors by referring doctors from different specialties of health care were detected in 192 patients. These were diverse and multiple and included schizophrenia, juvenile polyarthritis, rheumatic chorea, nephrotic syndrome, metachromatic leucodystrophy, congenital myopathies, subacute sclerosing panencephalitis, neurodegenerative disease among others. The mean (SD) delay was two (three) years (range: 0.08-30 years). Some of the interventions before establishment of correct diagnosis were electroconvulsive therapy, thalamotomy, antipsychotics, and surgical correction for bony deformity. While 98 patients were referred with correct diagnosis, only 16 were given specific treatment. CONCLUSION: Awareness among health professionals about varied presenting features of WD and high index of suspicion may have prognostic implications.

Adult↗
PubMed2004

Cardiac involvement in Wilson's disease--an electrocardiographic observation.

BACKGROUND: Wilson's disease is known for its protean manifestations; however electrocardiographic abnormalities have not received much attention. AIM: To evaluate the various electrocardiographic (ECG) changes in patients with Wilson's disease. METHOD: The resting ECGs of 50 patients with Wilson's disease were systematically analyzed independently by three observers after excluding other causes that could induce ECG abnormalities. RESULT: Fifteen patients had at least one abnormality in the ECG. Sinus tachycardia was seen in eight and sinus bradycardia in six. Other abnormalities included: bifid P wave (1), ST elevation (2), ST depression (2), T inversion (4), ventricular premature contraction - VPC (1) and prominent U waves (1). QRS axis, PR interval, QRS complex, R/S amplitude ratio and QT interval were normal in all. Ventricular premature beats were not recorded in any. None had features of ventricular hypertrophy. There was no statistically significant difference in ECG abnormalities with reference to age, gender, duration of illness or treatment, serum copper or ceruloplasmin, and severity of neurological impairment. CONCLUSION: ECG abnormalities are not uncommon in Wilson's disease and are presumably related to an underlying cardiomyopathy due to deposition of copper in heart.

Adolescent↗
PubMed2003

Hemiplegia: an initial manifestation of Japanese encephalitis.

A 7-year-old boy from an area endemic to Japanese encephalitis (JE) manifested with acute febrile illness, left hemiplegia and preserved consciousness during the prodromal phase of illness. The child developed features of encephalitis 48 hours after the onset of hemiplegia. IgM MAC ELISA for JE virus revealed high titers in the serum and cerebrospinal fluid suggestive of JE. MRI of the brain showed asymmetrical bilateral thalamic hyperintense lesions on T2 weighted image, considered diagnostic of JE. Hemiplegia during the prodromal phase or as an initial symptom of JE is rather unusual.

Child↗
PubMed2002

Autonomic dysfunction in Wilson's disease --a clinical and electrophysiological study.

Wilson's disease is known for its protean manifestations; however involvement of the autonomic nervous system has not received much attention. Fifty patients with varying duration and severity of illness were evaluated for autonomic dysfunction clinically and electrophysiologically, using sympathetic skin response (SSR) and RR interval variability (RRIV) on deep breathing. The change in heart rate (AHR) was calculated from RRIV. Five patients had at least one autonomic symptom and one asymptomatic patient had significant postural hypotension. Absent SSR and abnormal AHR were noted in seven patients each. Overall, 13 patients had electrophysiological dysautonomia and an additional six had clinical dysautonomia. All had normal peripheral conductions and all but one had normal hepatic functions. Dysautonomia was more common among patients with neurological presentation (12/32) than non-neurological (1/18) (p = .012). Dysautonomia, often subclinical is common in Wilson's disease and is probably of central origin. It is more frequent among those with neurological presentation. Sympathetic and parasympathetic functions are equally affected.

Adolescent↗