Dinesh Khandelwal

A unique combination of autoimmune limbic encephalitis, type 1 diabetes, and Stiff person syndrome associated with GAD-65 antibody

Antibodies to GAD-65 have been implicated in the pathogenesis of type 1 diabetes , limbic encephalitis and Stiff person syndrome, however these diseases rarely occur concurrently. We intend to present a rare case of 35 year old female who was recently diagnosed as having type 1 diabetes presented with 1½ month history of recurrent seizures, subacute onset gait ataxia, dysathria, psychiatric disturbance and cognitive decline. No tumor was found on imaging and the classic paraneoplastic panel was negative. Cerebrospinal fluid and blood was positive for GAD-65 antibodies.Patient showed significant improvement with immunomodulatory therapy. Association of GAD-65 antibodies has been found with various disorders including type 1 diabetes, limbic encephalitis, Stiff person syndrome,cerebellar ataxia and palatal myoclonus.This case presents with unique combination of type 1 diabetes, Stiff person syndrome and limbic encephalitis associated with GAD-65 antibodies that is responsive to immunotherapy. It also highlights the emerging concept of autoimmunity in the causation of various disorders and there associations.

Rare presentation of botulism with generalized fasciculations

Botulism is a dreadful, life-threatening, neuroparalytic disease caused by gram positive bacteria Clostridium botulinum. Food borne botulism has been described following ingestion of preformed toxins in canned food or food products that have not been preserved properly. Botulinum toxin acts on neuromuscular junction and manifests as ophthalmoplegia, bulbar and limb weakness, and autonomic features along with respiratory compromise. The literature and case reports regarding neuroparalytic botulism in India are sparse. Generalized fasciculations have been rarely reported in literature as manifestation of food borne botulism. We present a 35-year-male presenting with usual features described, but with prominent generalized fasciculations which are rare, and which rapidly responded to treatment.

Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME): Probable first family from India.

Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) is an extremely rare syndrome characterized by familial occurrence of postural and action-induced tremors of the hands but showing electrophysiologic findings of cortical reflex myoclonus. Patients also have cognitive decline and tonic-clonic seizures, often precipitated by sleep deprivation or photic stimulation. We describe probably the first family from India of this ill-defined syndrome.

Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy - Case report.

Cognitive decline and epilepsy are well recognized complication of Down syndrome (DS). Here, we intend to present a case of 28 year old male who presented with progressive mental regression, gait ataxia and myoclonic jerking especially on awakening in morning. His EEG was normal and karyotyping revealed trisomy of chromosome 21. Very few cases had been described in literature of late-onset myoclonic epilepsy in DS. This is first case report from India and our aim is to propose the inclusion of this entity in the spectrum of progressive myoclonic epilepsies but still more cases are yet to be found.

Paraspinal extraskeletal Ewing's sarcoma: a rare clinical entity

A 10-year-old boy presented with a 6 -month history of pain in the back (thoracic region), followed by progressive sensory and motor paraparesis with urinary incontinence. MRI of the dorsal spine revealed a well-defined collection in the prevertebral and paravertebral regions extending from D6 vertebral body to D11–D12 intervertebral disc level (figure 1). The mass was hypointense on T1-weighted image, hyperintense on T2-weighted image and showed heterogeneous contrast enhancement. The mass also displaced the thoracic aorta laterally (figure 2). The dorsal vertebral bodies were hyperintense on T2, but there was no destruction of the vertebral bodies and the disc space was also normal, hence ruling out a primary infective process of the spine such as …

Erb's paraplegia with primary optic atrophy: Unusual presentation of neurosyphilis: Case report and review of literature

Symptomatic neurosyphilis (NS) can have varied syndromic presentations: Meningitis, meningovascular and parenchymatous involvement. Non-tabetic syphilis affecting the spinal cord is rare and only sporadic case reports have been published. The variant of meningomyelitis known as Erbs paraplegia refers to patients of spinal syphilis with very slow progression over many years and predominantly motor signs. Primary optic atrophy occurs twice as frequently in tabes dorsalis as in other types of NS. We describe here a case of a 32-year-old truck driver who presented with Erbs paraplegia with primary optic atrophy. This clinical overlap in NS is extremely rare and to our knowledge is the first case report of its type.

Alien hand and leg as the presenting feature of probable sporadic Creutzfeldt-Jakob disease: A rare presentation of a rare disease.

Sporadic Creutzfeldt-Jakob disease (sCJD) can have varied clinical presentation depending upon the genotype at codon 129. The common presenting clinical features of sCJD are rapid onset cognitive impairment, ataxia, psychosis and visual signs (field defects, distortion, cortical blindness). Alien limb sign was first described in patients with corpus callosal tumors and later with other neurodegenerative conditions like corticobasal degeneration. Alien hand complaints as the presenting feature of sCJD has been described in literature, but simultaneous alien hand and leg has been rarely described as presenting feature of sCJD. We describe here a case of a 55-year-old man who presented with progressive left alien hand and leg as the sole clinical manifestation of probable sCJD.

Cerebral venous sinus thrombosis: Role of extra cranial collateral circulation

Annals of Indian Academy of Neurology, January-March 2015, Vol 18, Issue 1 issue and authors deserve credit for that. However, I have a few concerns with the methodology as described by the authors. The authors state that they used the mini-mental status exam (MMSE) for initial screening. They also used the Kolkata Cognitive Test Battery as also separately tested the language, praxis performance, executive functioning, as well as visuospatial and visuoperceptual functioning using standard methods. The authors claim that they based their diagnosis of dementia using Diagnostic and Statistical Manual of mental disorders. The authors further assessed behavioral and psychological symptoms on the basis of the NPI in the presence of a reliable caregiver. The authors translated the original NPI in to Bengali and used the same after following a standard technique.