Myasthenia gravis: A study from India.

Background: We present the findings from the largest hospital-based studies on myasthenia gravis from India, using data collected over a period of 43 years from the Neurology Department in a tertiary referral center in India. Objectives: To study the clinical presentation, age at onset, gender distribution, serological status and thymic pathology in patients with myasthenia gravis. Materials and Methods: A retrospective study was carried out using records of patients with myasthenia gravis from the years 1965 to 2008. Results: Of 841 patients, 836 (611 males and 225 females) had acquired myasthenia (myasthenia gravis) and five congenital myasthenia. The median age at onset was 48 years (males 53 years and females 34 years). The peak age at onset for males was in the sixth and seventh decade and in females, in the third decade. Two hundred and twenty-two (26.31%) patients had ocular and 616 (73.68%) generalized myasthenia. Serological studies were done in 281 patients with myasthenia gravis for Acetylcholine receptor (AchR) antibodies of which 238 (84.70%) were seropositive. The most common histopathology was thymoma and the second most common was thymic hyperplasia. Conclusion: Myasthenia gravis in our study was more common in males (M:F of 2.70:1). There was a single peak of age at onset (males sixth to seventh decade; females third decade). The higher prevalence of thymomas in this series is in all probability related to selection bias as patients with thymic enlargement or more severe disease underwent thymectomy. Thymoma was more common in males; hyperplasia in females.

Leukodystrophies: Indian scenario.

The leukodystrophies are familial disorders with onset usually in infancy or childhood. The clinical features consist of motor dysfunction with varying degree of cognitive decline. Magnetic Resonance Imaging (MRI) has helped to identify and characterize these disorders. In some leukodystrophies, biochemical enzymatic and genetic defects have been identified. The commonest leukodystrophy seen in India is Megalencephalic Leukodystrophy with subcortical cysts. The essential features consist of large head, mild pyramidal and cerebellar dysfunction, and occasional seizures. MRI studies show extensive white matter changes with temporal cysts. It is common in the Agarwal community in India. An identical mutation in exon 2 of the MLC 1 gene has been identified in this community suggesting a founder effect.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): a case report with review of literature.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an inherited arterial disease, commonly overlooked or misdiagnosed. We report a case of CADASIL in a 51 years old woman who presented with progressive subcortical dementia, recurrent ischemic events and seizures in the absence of known vascular risk factors of five years' duration. Her mother had a history of similar illness. Magnetic resonance imaging (MRI) of brain revealed subcortical and deep white matter hyperintense lesions within the cerebral white matter on T2-weighted images. DNA mutation of Notch 3 gene confirmed the diagnosis of CADASIL.

Intramedullary neurenteric cyst in mid thoracic spine in an adult: a case report.

Neurenteric cysts are very rare, particularly in adults. These are congenital intraspinal cysts of endodermal origin. A 67 years old man, presenting with backache and paraesthesiae of one and half years' duration, followed by subacute flaccid paraplegia, developing in a week is described. MRI revealed intramedullary cyst at T7. He underwent emergency thoracic laminectomy and complete excision of the cyst. Histopathology confirmed a neurenteric cyst. In view of their rarity, peculiarity in terms of age, location and presentation, we report this case.

Vasculitic neuropathy: profile of twenty patients.

Twenty patients with vasculitic neuropathy were analyzed. Sixteen of the twenty presented with classic mononeuritis multiplex but four had distal, symmetrical, sensorimotor polyneuropathy. Though vasculitic neuropathy is classically associated with Collagen vascular syndromes like, polyarteritis nodosa, rheumatoid arthritis and systemic lupus erythematosis, only 13/20 of our patients had definitive Collagen vascular disease. A large proportion (7/20) had vasculitic neuropathy as the only clinical feature.

Capsular involvement and sensorimotor stroke with posterior cerebral artery territory infarction.

The traditional concept of a clear demarcation between the vascular supply of the internal capsule and the thalamus cannot be regarded as absolute. Two cases of sensorimotor stroke due to posterior cerebral artery territory infarction are described, with CT evidence of internal capsular involvement.