Acute onset anarthria without hepatic manifestation: a rare presentation of Wilson disease.

Wilson disease (WD) is one of the few inherited but treatable disorder mainly affecting the liver and brain resulting in severe disability or death if left untreated. Hence, it is important to keep a high index of suspicion for diagnosing this clinical entity in appropriate clinical settings. The clinical presentation can be quite variable and they may present solely with neurological features sans hepatic symptoms.

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.

A rare presentation of cerebral venous sinus thrombosis associated with tubercular meningitis.

Central nervous system (CNS) tuberculosis may manifest as meningitis, meningoencephalitis, tuberculoma, tubercular abscess, stroke due to tuberculous vasculitis and tuberculous encephalopathy. Occasionally, tubercular meningitis (TBM) can predispose to cerebral venous sinus thrombosis (CVST). We report a young man, who developed CVST as a complication of TBM.

Evaluation of prognostic factors in medically treated patients of spinal tuberculosis.

This study was aimed to determine the prognostic factors in medically treated patients of spinal tuberculosis. In this longitudinal observational study, from July 2010 to December 2011, 70 consecutive patients (40 males and 30 females) spinal tuberculosis were enrolled. Diagnosis of spinal tuberculosis was based on characteristic clinical and neuroimaging features.

Acute confusional migraine: a variant not to be missed.

A middle age woman who had frequent migraines was admitted with memory loss following severe unilateral headache, restlessness and confusion. Investigations including haematology, biochemistry, cerebrospinal fluid analysis serology and imaging were normal. As she had frequent migraines with a history of ophthalmoplegic migraine, acute confusional migraine was thought of as a possibility.

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.

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.

Seizure recurrence in patients with solitary cystic granuloma or single parenchymal cerebral calcification: a comparative evaluation.

Background: Solitary cysticercus granuloma and single parenchymal calcified lesion are two common neuroimaging abnormalities in Indian patients with epilepsy. In this study, we evaluated the frequency and predictors of seizure recurrence in patients presenting with new onset epilepsy or single epileptic seizures and these two different imaging findings.

Materials And Methods: We enrolled 115 patients with newly diagnosed epilepsy.

Reflex gelastic-dacrystic seizures following hypoxic-ischaemic encephalopathy.

Reflex or stimulus-sensitive epilepsies are uncommon epileptic syndromes triggered by exogenous-specific sensory stimulus or endogenous various mental activities. Gelastic-dacrystic seizures are rare epileptic manifestations characterised by ictal laughter and crying. Gelastic-dacrystic seizures are commonly caused by hypothalamic hamartoma but rarely described due to cortical dysplasia, lesions of frontal and temporal lobes, tumours and vascular malformations.

A rare case of secondary syphilis manifesting as immune reconstitution syndrome in an HIV-positive patient.

A 44-year-old HIV-infected male, having a low CD4 count, was on antiretroviral therapy for the last 2 months, when he developed a skin rash. He gave a history of solitary unprotected extramarital sexual contact 6 months before onset of the rash. Dermatological examination revealed a bilaterally symmetrical, maculopapular erythematous rash involving the palms, forearms, and neck.

Linear IgA disease in an adult with unusual clinical features.

A 19-year-old male presented with complaints of fluid-filled lesions on the body of 2 weeks duration. On examination, he was found to have multiple tense bullae distributed on the flexures, face, and genitalia with associated oral ulcers and "cluster of jewels" sign. The diagnosis was confirmed by histopathology and direct immunofluorescence.

Thyroid associated orbitopathy.

Thyroid-associated orbitopathy (TAO) is a self-limiting auto-immune condition usually associated with Grave's disease. It is characterised by ocular pain, eyelid swelling, chemosis, proptosis and keratopathy. As the mechanism for ophthamoplegia and optic neuropathy is the orbital swelling leading to mechanical restriction of ocular muscles and compression of optic nerve, one expects proptosis rather than ptosis in TAO.

Incidence and care of environmental dermatoses in the high-altitude region of ladakh, India.

Background: Low humidity, high-velocity wind, excessive ultraviolet (UV) exposure, and extreme cold temperature are the main causes of various types of environmental dermatoses in high altitudes.

Materials And Methods: A retrospective study was carried out in patients visiting the lone dermatology department in Ladakh between July 2009 and June 2010. The aim was to identify the common environmental dermatoses in high altitudes so that they can be treated easily or prevented.

Early treatment causes clinicoradiological reversal of myelopathy due to vitamin B12 deficiency.

Vitamin B12 deficiency has a wide spectrum of clinical presentation with a variety of neurological symptoms and signs. As a result, many patients lack classic features of advanced severe deficiency. Early diagnosis and treatment are crucial in order to prevent the irreversible damage to the nervous system.

Central pontine myelinolysis associated with Wilson disease in a 7-year-old child.

Wilson disease is a rare heredodegenerative inborn error of copper metabolism with varied neuropsychiatric, hepatic and other manifestations. Here we report a case of Wilson disease with neurological manifestations in a 7-year-old girl with concurrent asymptomatic liver involvement and characteristic radiological findings of signal intensity alterations in bilateral striata and thalami along with changes in central pons too like central pontine myelinolysis (CPM), which is of rare occurrence.

First reported case of subcutaneous hyalohyphomycosis caused by Paecilomyces variotii.

Background: Hyalohyphomycosis is a rare opportunistic fungal infection caused by saprophytes of genera such as Fusarium, Paecilomyces, Scedosporium, Penicillium, Scopulariopsis Acremonium, and similar fungi. The literature includes only one previous report of Paecilomyces variotii human infection and very few reports of subcutaneous mycosis caused by any of the hyalohyphomycosis group of fungi.

Methods: We report an instance of fungal infection in a 50-year-old woman, known to have diabetes, who presented with multiple raised lesions on the upper back of two years' duration.

Mononeuritis multiplex and painful ulcers as the initial manifestation of hepatitis B infection.

Hepatitis B virus infection leads to multisystem manifestations owing to involvement of kidney, skin, vasculature, haematopoietic and nervous system. The hepatitis B infection can cause neuropathy either to vasculitis associated with polyarteritis nodosa or immune-mediated neural damage. In this submission, we report a young woman, who presented with mononeuritis multiplex and painful ulcerations as the first manifestation of chronic hepatitis B virus infection.

Anti-mycobacterial screening of five Indian medicinal plants and partial purification of active extracts of Cassia sophera and Urtica dioica.

Objective: To find out the anti-mycobacterial potential of Cassia sophera (C. sophera), Urtica dioica (U. dioica), Momordica dioica, Tribulus terrestris and Coccinia indica plants against multi-drug resistant (MDR) strain of Mycobacterium tuberculosis (M.

Disseminated cerebral and spinal tuberculomas: rare cause of triparesis.

Tuberculosis continues to remain a significant public health problem in developing nations, causing substantial morbidity and mortality. Central nervous system (CNS) tuberculosis is frequently observed in endemic zones of tuberculosis including India. The emergence of infections like HIV and malnutrition ruined the public health measures to restrain tuberculosis in developing countries.

Pathological fractures as an initial presentation of Wilson's disease.

Wilson's disease (WD) has varied phenotypic presentations. Here we report the case of a 16-year-old boy who presented with a history of multiple pathological fractures, severe joint deformities, hepatic dysfunction, cognitive decline and limb dystonia. On examination, the patient had pinched out facies, pallor and leukonychia totalis.

Study of micronutrients (copper, zinc and vitamin B12) in posterolateral myelopathies.

Background: Vitamin B12 deficiency is a well recognized cause of posterolateral myelopathy. In Indian subcontinent, it may coexist with nutritional copper deficiency producing partial response of patients to B12 supplementation. Hence the study was planned to look for association of hypocupremia and B12 deficiency.

Bladder dysfunction and urodynamic study in tuberculous meningitis.

Background: Micturitional disturbances in tuberculous meningitis have been reported infrequently and that too without urodynamic studies. Bladder dysfunction in tuberculous meningitis is often considered secondary to tuberculous radiculomyelopathy. We, in this study, evaluated the incidence and pattern of bladder dysfunction in tuberculous meningitis.