Samhita Panda

Sleep-related disorders among a healthy population in South India

INTRODUCTION Sleep-related disorders (SRDs) though frequent, are under-reported and their implications are often neglected. OBJECTIVE To estimate SRDs in an apparently healthy South Indian population. MATERIALS AND METHODS Data was collected by administering a questionnaire including Sleep Disorders Proforma, Epworth Sleepiness Scale, and Pittsburgh Sleep Quality Index (PSQI) to 1050 apparently healthy attendants/relatives of patients attending a tertiary healthcare institution. RESULTS The mean age of the respondents was 35.1±8.7 years with even gender distribution (male: female; 29:21), work hours were 7.8±1.33 h and had regional representation from the southern Indian states. The majority of the respondents did not report any significant medical/psychiatric co-morbidities, hypertension was noted in 42.6%, in one-fourth, the body mass index (BMI) was >25, and in 7.7% the neck size was >40 cm. Daily tea (70.3%) and coffee (17.9%) consumption was common and 22.2% used tobacco. Average time-to-fall-asleep was 22 min (range: 5-90 min), average duration-of-actual-sleep was 7 h (range: 3.5-9.1 h) with the majority (93.8%) reporting good-quality sleep (global PSQI ≤5). The reported rates of SRDs varied between 20.0% and 34.2% depending on the instrument used in the questionnaire. Insomnia, sleep-related breathing disorders (SRBD), narcolepsy, and restless legs syndrome (RLS) were reported by 18.6%, 18.4%, 1.04% and 2.9%, respectively. Obesity was not strongly associated with SRBD. in 51.8% of subjects with SRBD BMI was <25 kg/m 2 . Of the respondents with insomnia, 18% had difficulty in initiating sleep, 18% in maintaining sleep and 7.9% had early morning awakening. Respondents attributed insomnia to depression (11.7%) or anxiety (2.5%). Insomnia was marginally high in females when compared to males (10.3% vs. 8.3%) and depression was the major reason. RLS, which was maximal at night, was responsible for delayed sleep onset (74.2%). Other SRDs included night terrors (0.6%), nightmares (1.5%), somnambulism (0.6%), and sleep-talking (2.6%). Family history of SRDs was present in 31.4% respondents. While, only 2.2% of the respondents self-reported and acknowledged having SRD, health-seeking was extremely low (0.3%). CONCLUSION SRDs are widely prevalent in India. Considering the health implications and poor awareness, there is a need to sensitize physicians and increase awareness among the public.

Electro-clinical characteristics and postoperative outcome of medically refractory tumoral temporal lobe epilepsy

BACKGROUND Very few studies have specifically addressed surgical treatment and outcome of patients with tumor-related temporal lobe epilepsy (TLE). AIM To define the postoperative seizure outcome and the factors that influenced the outcome of patients with tumor-related TLE. MATERIALS AND METHODS We selected patients whose surgical pathology revealed a temporal lobe neoplasm and who had completed > 1 year of postoperative follow-up. We reviewed the clinical, EEG, radiological and pathological data, and the seizure outcome of these patients and assessed the factors that influenced the outcome. RESULTS Out of the 409 patients who underwent surgery for refractory TLE during the 8-year study period, there were 34 (8.3%) patients with temporal lobe neoplasms. The median age at surgery was 20 years and the median duration of epilepsy prior to surgery was 9.0 years. MRI revealed tumor in the mesial location in 21 (61.8%) patients. Interictal and ictal epileptiform EEG abnormalities were localized to the side of th lesion in the majority. Mesial temporal lobe structures were included in the resection, if they were involved by the tumor; otherwise, lesionectomy alone was performed. During a median follow-up of 4 years, 27 (79%) patients were completely seizure-free. The only factor that predicted long-term seizure-free outcome was being seizure-free during the first two postoperative years. CONCLUSIONS Our results emphasize the fact that in patients with tumoral TLE, when the seizures are medically refractory, surgery offers potential for cure of epilepsy in the majority.

A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent.

The clinical manifestations and histopathologic and neuroimaging findings in 4 Indian patients with a variant form of mucolipidosis IV are described. The presenting symptoms were psychomotor delay, spastic paraplegia, and mild mental retardation. One patient also had visual deterioration due to optic atrophy. None had corneal or retinal abnormalities. Magnetic resonance imaging in 3 patients showed a uniformly thin corpus callosum in all patients and white matter changes in 2 patients. Electron microscopic examination of skin biopsy specimens revealed storage bodies characteristic of mucolipidosis IV. These patients differ from previously described patients with this disorder in the absence of corneal abnormalities and in their presentation with spastic paraplegia during the second decade of life. Correct diagnosis is needed for genetic counseling, prognostication. and reduction of additional familial burden of this rare disease.

Reversible parkinsonism following ventriculoperitoneal shunt in a patient with obstructive hydrocephalus secondary to intraventricular neurocysticercosis

Parkinsonism with evidence of midbrain dysfunction has been reported in a few patients with aqueductal stenosis after placement of ventriculoperitoneal (VP) shunt. The response to levodopa is variable. We report a patient with neurocysticercosis of the fourth ventricle who developed transient parkinsonism without evidence of midbrain dysfunction after placement of a VP shunt. The frequency of tremor was 5-5.5 Hz. Though the response to levodopa was initially slow, later it was significant, and after 3 months he was asymptomatic without levodopa. The exact pathophysiology of parkinsonism in our patient remained obscure.

Sleep in Wilson's disease: a polysomnography-based study.

Wilsons disease (WD) has neuro-anatomical, pathophysiological and neurochemical basis for sleep disturbances. The aim of the study was objective evaluation of the frequency and nature of sleep abnormalities using polysomnography (PSG) in patients with WD. The study included 25 subjects with WD (males, 18; age , 24.4 ± 9.25 years) and 25 healthy controls (all males; age, 33.1 ± 9.7 years). After phenotypic assessment and magnetic resonance imaging (MRI), sleep-related questionnaires were administered, and PSG was performed. Patients had significantly reduced total sleep-time (P=.001), sleep-efficiency (P=.001), percentage of deep sleep (P=.01), and REM-sleep (P=.04) with prolonged sleep-onset latency (P=.05) and latency to stage 2 (P=.02). Subgroup analyses of patients based on demographic and clinical parameters were done. Men had significantly more bradycardia both during awake (P=.002) and sleep (P=.03) states. Younger patients (<20 years) had frequent tachycardia (P=.01), higher Periodic Limb Movement (PLM) Index (P=.01) and lesser REM% sleep (P=.05). Patients on de-coppering therapy had prolonged REM-sleep-onset latency (P=.03) and mixed apnea events (P=.04). The isolated limb movements were more in the severe form of disease (P=.05) and in patients taking anticonvulsants (P=.03). This study, the first of its kind in literature, revealed significant sleep disturbances in patients with Wilsons disease.

Alterations in Polysomnographic (PSG) profile in drug-naïve Parkinson's disease

Objective: We studied the changes in Polysomnographic (PSG) profile in drug-naïve patients of Parkinsons disease (PD) who underwent evaluation with sleep overnight PSG. Materials and Methods: This prospective study included 30 with newly diagnosed levodopa-naïve patients with PD, fulfilling the UK-PD society brain bank clinical diagnostic criteria (M:F = 25:5; age: 57.2 ± 10.7 years). The disease severity scales and sleep related questionnaires were administered, and then patients were subjected to overnight PSG. Results: The mean duration of illness was 9.7 ± 9.5 months. The mean Hoehn and Yahr stage was 1.8 ± 0.4. The mean Unified Parkinsons Disease Rating Scale (UPDRS) motor score improved from 27.7 ± 9.2 to 17.5 ± 8.9 with sustained usage of levodopa. Nocturnal sleep as assessed by Pittsburgh Sleep Quality Index (PSQI) was impaired in 10 (33.3%) patients (mean PSQI score: 5.1 ± 3.1). Excessive day time somnolence was recorded in three patients with Epworth Sleepiness Scale (ESS) score ≥ 10 (mean ESS score: 4.0 ± 3.4). PSG analysis revealed that poor sleep efficiency of <85% was present in 86.7% of patients (mean: 68.3 ± 21.3%). The latencies to sleep onset (mean: 49.8 ± 67.0 minutes) and stage 2 sleep (36.5 ± 13.1%) were prolonged while slow wave sleep was shortened. Respiration during sleep was significantly impaired in which 43.3% had impaired apnoea hyperpnoea index (AHI) ≥5, mean AHI: 8.3 ± 12.1). Apnoeic episodes were predominantly obstructive (obstructive sleep apnea, OSA index = 2.2 ± 5.1). These patients had periodic leg movement (PLM) disorder (56.7% had PLM index of 5 or more, mean PLMI: 27.53 ± 4 9.05) that resulted in excessive daytime somnolence. Conclusions: To conclude, sleep macro-architecture is altered in frequently and variably in levodopa-naïve patients of PD and the alterations are possibly due to disease process per se.

Osteomalacia induced peripheral neuropathy after obesity reduction surgery.

Osteomalacia and rickets are important reversible causes of debilitating muscular weakness and bony pains in India among all socio-economic strata and at all ages. Osteomalacia after bariatric surgery is documented in literature. Most reports on osteomalacic weakness note myopathic pattern on electromyography. We present the case of a young obese girl from a good socio-economic status who developed severe muscular weakness after sleeve gastrectomy surgery. The patient was found to have osteomalacia with normal vitamin B12 and folate levels. Electrodiagnostic studies demonstrated neuropathic pattern while radiological tests confirmed osteopenia and Loosers zones. Specific vitamin D supplementation was associated with improvement though contribution of other micronutrients in diet cannot be ruled out. Relevance of vitamin D deficiency and urgent need for its correction in the population all over the world and especially in Asia is an emerging health issue. Peripheral motor neuropathy is a rare, seldom reported presentation of osteomalacia.

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.

Cholesterol Ester Storage Disease With Unusual Neurological Manifestations in Two Siblings : A Report From South India

Cholesterol ester storage disease is a rare autosomal recessive storage disorder resulting from lysosomal acid lipase deficiency. Two siblings manifested with hepatosplenomegaly, ptosis, and bilateral external ophthalmoplegia. Evaluation revealed hyperlipidemia and bilateral adrenal calcifications. Leukocyte acid lipase levels were significantly low in both the patients, compared with controls, suggesting a diagnosis of cholesterol ester storage disease. Ptosis and external ophthalmoplegia have hitherto not been reported in cholesterol ester storage disease.

An unusual case of rapidly progressive contractures: Case report and brief review

An 8-year-old boy, diagnosed as cervical dystonia, was referred to our tertiary center. After a trivial trauma he had developed painful lumps in the axial region, which was followed by restricted movements of neck, shoulder, and abdominal muscles over 4 months. He had kyphoscoliosis, torticollis, rigid abdomen, and multiple muscle contractures. He also had short great toes. A detailed skeletal survey showed calcification in the soft tissues surrounding the shoulder anterior chest wall, thorax, and paraspinal muscles; there was also beaking of vertebrae, which was confirmed by CT thorax. This report showcases the diagnostic challenge posed by myositis ossificans progressiva, which can rarely cause rapidly progressing muscle contractures. A brief review of literature is also presented.