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2.  Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia 
Abetalipoproteinemia is an uncommon cause of ataxia and retinitis pigmentosa (RP). Most of the neurological and ocular manifestations occur secondary to deficiency syndromes that is consequent to fat malabsorption from the small intestine. In this report, we have described the phenotype of a young adult female who manifested with recurrent diarrheal illness in her first decade, followed by anemia, RP, and neurological involvement with progressive deafness, cerebellar and sensory ataxia, and subclinical neuropathy in her second decade of life. While RP and sensory ataxia due to vitamin E deficiency are well-recognized features of abetalipoproteinemia, deafness is rarely described. In addition, we have highlighted the abnormal posterior column signal changes in the cervical cord in this patient. Early recognition avoids unnecessary investigations and has a potential to retard the disease progression by replacing some of the deficient vitamins.
doi:10.4103/0972-2327.128574
PMCID: PMC3992748  PMID: 24753676
Abetalipoproteinemia; acanthocytes; dorsal column hyperintensity; magnetic resonance imaging
3.  Functional outcome following rehabilitation in chronic severe traumatic brain injury patients: A prospective study 
Objective:
The objective was to assess functional outcome of rehabilitation in chronic severe traumatic brain injury (TBI) in-patients.
Setting:
The study was performed at university tertiary research hospital.
Study Design:
A prospective cross-sectional study
Materials and Methods:
Forty patients (34 men) with mean age of 30.1 years (range 6--60, SD 10.8), severe TBI (Glasgow coma scale 3--8, duration of coma > 6 hours, post-traumatic amnesia> 1 day postinjury) were admitted in rehabilitation unit minimum 3 months (mean 7.7±4.6 months, range 3--22 months) following injury falling in Glasgow outcome scale (GOS) of 3. Functional recovery was assessed using the Barthel Index (BI) score and disability rating scores (DRS).
Data Analysis:
Paired Student's t-test was used for the assessment of functional recovery using mean BI scores at admission and discharge. The Wilcoxon nonparametric test was used for the assessment of functional recovery by comparing admission and discharge DRS scores.
Results:
Mean duration of stay was 30.8 days (range 18--91, SD15.6). Significant functional recovery observed in patients comparing BI and DRS scores at admission and discharge (mean BI admission 50.5±25.4, range 0--85 vs. mean discharge BI score 61.1±25.3, range 0--95, P<0.001, mean DRS admission score 7.57±4.1, range 2.5--21.0 vs. mean discharge DRS score 6.36±4.3, range 1.0-21.0, P<0.001).
Conclusion:
Patients with severe TBI continue to show functional recovery even in chronic phase with rehabilitation. They are left with significant residual physical and cognitive deficits and would require long-term care and assistance from care givers for the daily activities, as suggested by the mean DRS score at discharge.
doi:10.4103/0972-2327.94995
PMCID: PMC3345588  PMID: 22566725
Functional outcome; inpatient rehabilitation; severe traumatic brain injury
4.  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.
doi:10.4103/0972-2327.91942
PMCID: PMC3271464  PMID: 22346014
Guillain Barré syndrome; intensive care; mechanical ventilation; mortality
5.  Sleep in Wilson’s disease: Questionnaire based study 
Objective:
We proposed to detect sleep abnormalities in Wilson’s disease, (WD) using sleep questionnaires.
Materials and Methods:
Twenty-five patients (M:F = 18:7; age: 24.4 ± 9.2 years) with WD and 24 controls (all males; age: 33.1 ± 9.7 years) were recruited. They underwent phenotypic/magnetic resonance imaging (MRI) evaluation followed by administration of Pittsburg Sleep Quality Index (PSQI) and Epworth Sleepiness Scale (ESS) questionnaires.
Results:
The mean age at presentation and diagnosis was 24.4 ± 9.2 and 17.6 ± 7.5 years, respectively. The duration of illness at diagnosis was 14 ± 21.9 months. On PSQI, 15 patients with WD had abnormal PSQI scores of >5 as compared to 6 patients among the controls. The mean PSQI score was significantly more (P = 0.03) in patients compared to the controls. The PSQI worst scores were noted only in WD. Evaluation with ESS showed that three patients with WD scored >10/24, while two among the controls qualified for excessive daytime sleepiness. Overall, assessment by sleep questionnaires detected abnormality in 16 patients with WD as compared to 8 controls (P = 0.004). Subgroup analysis revealed that patients whose duration of illness was >8 years and who were on decoppering treatment had significantly lesser excessive daytime somnolence.
Conclusions:
Sleep disturbances were observed more often in WD than in controls. Better designed studies will provide a better understanding.
doi:10.4103/0972-2327.78047
PMCID: PMC3098521  PMID: 21633612
Epworth sleepiness scale; Pittsburg sleep quality index; sleep; sleep questionnaire; Wilson’s disease
7.  Post-stroke depression: Prevalence and relationship with disability in chronic stroke survivors 
Objectives:
To evaluate (1) the prevalence of operationally defined depressive disorder (ICD-10) in chronic stroke subjects and (2) the relationship of post-stroke depression (PSD) with disability.
Design:
Cross-sectional, descriptive study.
Setting:
Neurological rehabilitation unit of a tertiary care university research center.
Materials and Methods:
Participants were those with first episode of supratentorial stroke of more than 3 months' duration with impaired balance and gait who had been referred for rehabilitation. Data were collected on demographic data, stroke data (side and type of lesion and post-stroke duration), cognition (mini mental state examination), depressive ideation (Hamilton Depression Rating Scale - HRDS), impairment (Scandinavian Stroke Scale), balance (Berg Balance Scale), ambulatory status (Functional Ambulation Category), walking ability (speed), and independence in activities of daily living (Barthel Index). Statistical analysis was done using SPSS 13.0. We carried out the chi-square test for ordinal variables and the independent t test for continuous variables.
Results:
Fifty-one patients (M:F: 41:10) of mean age 46.06 ± 11.19 years and mean post-stroke duration of 467.33 ± 436.39 days) were included in the study. Eighteen of the 51 participants (35.29%) met the criteria for depression. Demographic variables like male gender, being married, living in a nuclear family, urban background, and higher HRDS score were significantly correlated with PSD (P < 0.05). Depression was related to functional disability after stroke but to a statistically insignificant level (P > 0.05) and was unrelated to lesion-related parameters.
Conclusion:
Depression occurs in one-third of chronic stroke survivors and is prevalent in subjects referred for rehabilitation. PSD is related primarily to demographic variables and only to a lesser extent to functional disability following stroke.
doi:10.4103/0972-2327.64643
PMCID: PMC2924510  PMID: 20814496
Cerebrovascular accident; rehabilitation; quality of life
8.  Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: Phenotypic, pathological, and MRI description 
Familial amyloidotic polyneuropathy (FAN type 1) is a rare systemic disease that causes severe and disabling peripheral neuropathy. We describe the phenotypic, radiological, and pathological characteristics of a patient with familial amyloid polyneuropathy type 1 who had evidence of motor-sensory-autonomic neuropathy, ocular vitreous deposits, diffuse leptomeningeal involvement, and hypertrophic cardiomyopathy. Muscle involvement, an infrequently reported feature, was also observed. Early recognition of the disease has significant therapeutic implications.
doi:10.4103/0972-2327.64642
PMCID: PMC2924515  PMID: 20814501
Amyloidosis; cardiomyopathy; familial amyloidotic polyneuropathy; leptomeningitis; myopathy; neuropathy; vitreous deposits
9.  Radial neuropathy due to occupational lead exposure: Phenotypic and electrophysiological characteristics of five patients 
Lead is a ubiquitous and versatile metal that has been used by mankind for many years. It is a toxic heavy metal that ranks as one of the most important environmental poisons in the world. Research conducted in recent years has increased public health concern about the toxicity of lead at low doses and has supported a reappraisal of the levels of lead exposure that may be safely tolerated in the workplace. Neuropathy is one complication of lead poisoning. The aim of this study is to describe the phenotypic and electrophysiological profile in five male patients working in a battery factory who developed radial nerve neuropathy due to lead exposure. All patients had elevated blood lead levels that were in the toxic range. The concerned regulatory bodies should make it mandatory for workers to undergo regular health checkups to detect signs of lead poisoning and must ensure that workers are aware about the ill effects of exposure to this metal. Chelation therapy removes lead from the blood and soft tissues and chronic lead exposure often requires repeated courses of treatment.
doi:10.4103/0972-2327.53080
PMCID: PMC2812735  PMID: 20142857
Electrophysiology; lead; neuropathy; radial nerve
10.  Urodynamics post stroke in patients with urinary incontinence: Is there correlation between bladder type and site of lesion? 
Objective:
Assessment of bladder by urodynamic study (UDS) in patients with urinary incontinence following stroke, and correlation with site of lesion.
Study Design and Setting:
Retrospective cross-sectional study in the neurological rehabilitation unit of a tertiary care institute.
Materials and Methods:
Forty patients (22 males) with arterial or venous, ischemic or hemorrhagic stroke, with urinary incontinence in the acute phase following the event, underwent UDS. Seventeen patients had right hemiplegia, 18 had left hemiplegia, and five had posterior circulation stroke with brainstem/cerebellar features. Bladder type was correlated with age, side, and site of lesion.
Results:
The mean age was 46.80 ± 16.65 years (range: 18-80 years). Thirty-six patients had arterial stroke and four had cortical venous thrombosis. UDS was performed after a mean of 28.32 ± 10.27 days (range: 8-53 days) after the stroke. All but one patient had neurogenic bladder dysfunction, with 36 patients (90%) having overactive detrusor (OD) and three having underactive/areflexic detrusor. Among the 36 patients with OD, 25 patients (62.5%) had OD without detrusor-sphincter dyssynergy (DSD) and 11 (27.5%) had OD with DSD. Bladder management was advised based on the UDS findings. No significant correlation (P > 0.05) was found between type of bladder and age or side and site of lesion.
Conclusions:
UDS is a useful tool to assess and manage the bladder following stroke with urinary incontinence. In this study, no significant correlation was found between UDS findings and site of lesion.
doi:10.4103/0972-2327.53078
PMCID: PMC2812733  PMID: 20142855
Stroke; urinary incontinence; urodynamic study
11.  Urodynamic profile in myelopathies: A follow-up study 
Aims:
To study the significance of filling cystometry in assessment and management of neurogenic bladder in myelopathies and correlate neurological recovery and bladder management in the follow up.
Study Design:
Retrospective analysis of reports of filling cystometry in patients with traumatic and non-traumatic myelopathy.
Setting:
Neuro-rehabilitation unit of a tertiary care university hospital.
Methods:
The study was carried out between September 2005 and June 2006 and included all subjects with myelopathy who underwent filling cystometry. ASIA impairment scale was used to assess neurological status during admission as well as in the follow up. Bladder management was advised based on the cystometric findings. Neurological recovery and mode of bladder management were correlated during the follow up after a minimum of 6 months.
Results:
Fifty-two subjects (38 males, 14 females), mean age 33.26 ± 14.66 years (10–80) underwent filling cystometry. Twenty patients had cervical, 24 had thoracic and 8 had lumbar myelopathy. Cystometric findings were overactive detrusor observed in 43 patients, (21 had detrusor sphincter dyssynergia (DSD), 22 without DSD) and areflexic/underactive detrusor in 9. Post-void residual (>15% of voided urine) was significant in 27 patients. Twenty-three patients (44%) reported for follow up (16 males, 7 females) after a mean duration of 9.04 ± 2.44 months (6–15 months). Neurological recovery was seen in 61% cases, while 1 patient showed deterioration. Only 26% patients reported change in bladder management during follow up. Correlation between neurological recovery and bladder management was found to be insignificant (P > 0.05) using spearman correlation co-efficient.
Conclusions:
Filling cystometry is valuable for assessment and management of neurogenic bladder after myelopathy. No significant relationship was observed between neurological recovery and neurogenic bladder management in the follow up in the present study.
doi:10.4103/0972-2327.48850
PMCID: PMC2811976  PMID: 20151007
Filling cystometry; myelopathy; neurogenic bladder
12.  Epilepsia partialis continua in mitochondrial dysfunction: Interesting phenotypic and MRI observations 
An 11-year-old girl manifested with photophobia, ptosis, external ophthalmoplegia, hypotonia, weakness of proximal limb muscles, hyporeflexia, and generalized seizures (six months). Her elder sister had had uncontrolled seizures and photophobia and died at seven years of age. In the patient, serum lactate was high (55 mg/dl). Muscle biopsy revealed characteristic ragged red and ragged blue fibers, diagnostic of mitochondrial cytopathy. Sequencing of the complete mitochondrial genome of the DNA obtained from the muscle biopsy of the patient did not show any characteristic mutation. Four months later, the girl was admitted with a one-week history of epilepsia partialis continua (EPC). EEG revealed Periodic Lateralized Epileptiform Discharges (PLEDs), once in 2-4 seconds, over the right temporo-occipital leads. MRI revealed signal change of right motor cortex, which had restricted diffusion. MR spectroscopy (MRS) from this region revealed lactate peak. EPC remained refractory to multiple anti-epileptic drugs, immuno-modulators, coenzyme-Q, and carnitine. This thought provoking report expands the spectrum of mitochondrial cytopathies.
doi:10.4103/0972-2327.42942
PMCID: PMC2771970  PMID: 19893669
Chronic progressive external ophtalmoplegia; epilepsia partialis continua; mitochondrial dysfunction; Mitochondrial Encephalopathy with Ragged Red Fiber; MRI; periodic lateralized epileptiform discharges

Results 1-12 (12)