Focal neuromyotonia as a presenting feature of lumbosacral radiculopathy.

Neuromyotonia is characterized by motor, sensory, and autonomic features along with characteristic electrophysiologic findings, resulting from hyperexcitability of the peripheral nerves. We describe the case of a 36-year-old man, who presented with the disabling symptoms suggestive of focal neuromyotonia involving both the lower limbs. His neurological examination revealed continuous rippling of both the calf muscles with normal power, reflexes, and sensory examination. Electrophysiology revealed spontaneous activity in the form of doublets, triplets, and neuromyotonic discharges along with the neurogenic motor unit potentials in bilateral L5, S1 innervated muscles. Magnetic resonance imaging lumbosacral spine revealed lumbar intervertebral disc protrusion with severe foraminal and spinal canal stenosis. Patient had good response to steroids and carbamazepine. The disabling focal neuromyotonia, occurring as a result of chronic active radiculopathy, brought the patient to medical attention. Patient responded to medical management.

Clinico-electrophysiological profile and predictors of functional outcome in Guillain-Barre syndrome (GBS).

INTRODUCTION: Guillain-Barre syndrome (GBS) is an acute polyradiculoneuropathy with varied severity of presentation. AIMS: To study the clinical and electrophysiological profile of patients with GBS and to determine the factors associated with poor functional outcome and need for mechanical ventilation. SETTINGS AND DESIGN: It was a hospital-based prospective observational study. METHODS AND MATERIAL: 90 patients with GBS diagnosed as per Asbury and Cornblath criteria were enrolled and followed up for 6 months. Various epidemiological, clinical and electrophysiological parameters were evaluated. Hughes motor scale was used to measure functional outcome. Factors associated with poor functional outcome and need for mechanical ventilation were determined. RESULTS: 90 patients (56 males; 34 females; mean age of 29.3±15.2 years) were enrolled in this study. Amongst these 6 (6.7%) patients died during in-hospital stay. Antecedent infection was present in 29 (32.2%), autonomic dysfunction in 31 (34.4%), bulbar palsy in 21 (23.3%), neck flexor weakness in 52 (57.8%). 60 cases (66.7%) were of axonal variety and 30 (33.3%) of demyelinating variety. On univariate analysis, predictors associated with poor functional outcome at 6 months were autonomic dysfunction (p=0.013), neck flexor weakness (p=0.009), requirement of ventilatory assistance (p=<0.001), MRC sum score<30 on admission (p=<0.001) and axonal pattern on electrophysiological assessment (p=<0.001). On multivariate analysis, MRC sum score<30 on admission (p=0.007) and axonal pattern on electrophysiological assessment (p=<0.001) were independently associated with poor functional outcome at 6 months. Factors associated with need for mechanical ventilation were presence of autonomic dysfunction (p=<0.001), cranial nerve palsy including facial palsy (p=<0.001) and bulbar palsy (p=0.002), neck flexor weakness (p=<0.001), low MRC sum score (<30) (p=0.001), and low proximal CPN CMAP amplitude to distal CPN CMAP amplitude ratio (p=0.042); none of them being significant on multivariate analysis. CONCLUSIONS: Detailed evaluation of the clinical and electrophysiological profile may help in predicting the functional outcome and need for mechanical ventilation in patients with GBS.

Propriospinal myoclonus: is it always psychogenic?

Propriospinal myoclonus (PSM) is a rare type of movement disorder in which the myoclonic jerks are present or intensified in supine position. Arising from a thoracic or abdominal generator, the movements propagate rostrocaudally as per the spinospinal conduction velocity. Routine neuroimaging and electrophysiology being normal in most instances, it is frequently interpreted as psychogenic. We present a case of PSM which will throw ample light on the pathophysiology, approach and dilemmas in treatment.

Late infantile neuronal ceroid lipofuscinosis: A case report with review of literature.

Neuronal ceroid lipofuscinosis (NCL) are a group of genetically mediated neurodegenerative disorders affecting children and young adults. They are characterized by global mental and motor deterioration, vision loss, and epilepsy ultimately resulting in death. Of the various types, late infantile variety is the 2(nd) most common form of NCL. Here the authors report a case of a 9-year-old boy who presented with progressive mental and social deterioration since the age of 2½ years. As the disease progressed, he developed progressive vision loss, gait ataxia, action myoclonus, and epilepsy. Electroencephalogram revealed generalized sharp and slow wave discharges with background slowing. Magnetic resonance imaging of the brain revealed diffuse cerebral and cerebellar atrophy markedly affecting the cerebellum along with periventricular T2 hyperintensities. Skin biopsy from axilla revealed characteristic intracytoplasmic eosinophilic inclusions and periodic acid Schiff positive bodies within the eccrine ducts suggestive of NCL.

New onset refractory status epilepticus (NORSE) as the heralding manifestation of herpes simplex encephalitis.

New onset refractory status epilepticus (NORSE) is a relatively novel concept used to describe a cohort of previously healthy young adults mostly women presenting with denovo refractory status epilepticus which has a miserable impact on the outcome. Various infectious and non-infectious causes have been considered to be responsible for this dreaded syndrome; however, many a times the exact cause is not identified. As therapy with antiepileptic and anaesthetic drugs is not so successful, identifying and treating the exact cause could improve the outcome. Here the authors describe a woman who presented with NORSE. Investigations confirmed the diagnosis of herpes simplex encephalitis (HSE) and she responded drastically to acyclovir along with complete control of seizures. In this case, NORSE was the presenting feature of HSE and the refractoriness of her seizures was terminated only after treating the exact cause, that is, encephalitis.

Evolution of certain typical and atypical features in a case of subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis (SSPE) is a slowly progressive inflammatory disease of the central nervous system caused by a persistent measles virus usually affecting the childhood and adolescent age group. Clinical features at onset are very subtle and non-specific. Certain atypical features can occur at onset or during the course of illness which can be misleading. Neuroimaging features often are non-specific. Features like myoclonic jerks, cognitive decline and typical EEG findings lead to a strong suspicion of SSPE. Here, we describe the stagewise progression of a case of SSPE in a 14-year-old girl who had myoclonic jerks and cognitive decline at onset. During the course of disease, the patient developed cortical vision loss, atypical extrapyramidal features like segmental and hemifacial dystonia ultimately leading to a bedbound vegetative state. EEG showed typical periodic discharges along with positive cerebrospinal fluid serology for measles.

Subacute sclerosing panencephalitis presenting as neuromyelitis optica.

Subacute sclerosing panencephalitis (SSPE) is a slowly progressing inflammatory and degenerative disorder of the brain caused by a mutant measles virus. The diagnosis of SSPE is based on characteristic clinical and EEG findings (periodic complexes) and demonstration of elevated antibody titres against measles in cerebrospinal fluid. SSPE can have atypical clinical features at the onset. The authors here report a case of a 3-year-old child who presented with vision loss followed 15 months later by quadriparesis with bladder involvement. These clinical features resembled that of neuromyelitis optica. However, as the disease progressed, appearance of myoclonic jerks, periodic discharges on EEG and positive cerebrospinal fluid serology for measles led to the final diagnosis of SSPE.

Intracranial venous sinus thrombosis mimicking Lhermitte Duclos disease.

A middle-aged man presented with 1-month history of headache, dizziness, staggering of gait and progressive deafness. Examination revealed decreased visual acuity, papilloedema, gaze evoked nystagmus, bilateral sensorineural deafness and gait ataxia. MRI showed TI iso and T2 hyperintensity of cerebellum, prominence of folia with gyral enhancement in a tigroid pattern making impression of the rare entity, Lhermitte Duclos disease (LDD) or dysplastic gangliocytoma of cerebellum. Conservative management for the raised intra cranial pressure did not have any impact on patient's general condition for which an MR venogram was planned and it surprisingly showed non-visualisation of left transverse sinus and internal jugular vein, suggestive of thrombosis. Patient was treated with anticoagulants but he succumbed to his illness soon after. We present this case to convey that a high index of suspicion should always be there in mind for this commoner condition (venous sinus thrombosis) before diagnosing the rarer ones (here LDD disease) to prevent the disastrous consequences of the former.

Pleural involvement in spinal tuberculosis.

Spinal tuberculosis or Pott's disease of the spine associated with pleural involvement has long intrigued researchers regarding the nature and pathogenesis of their occurrence. We describe two interesting patients of spinal tuberculosis, one with cervical and another with thoracic spine disease, with pleural involvement, which developed after lateral extension of cold abscess involving the parietal pleura, and without any evidence of pulmonary disease.