Hereditary sensory autonomic neuropathies (HSAN) are rare genetically determined neuropathies. They often manifest as painless injuries in children and there is a potential for misdiagnosis with other sensory neuropathies especially leprosy. We report two siblings who clinically, electrophysiologically and pathologically have HSAN. We also summarise the current classification and recent genetic advances.

[ABSTRACT]  [FULL TEXT]  [PDF] [CITATIONS]

Carbamazepine (CBZ) is widely used in clinical practice for various indications. Although its potential harmful effects on the hemopoetic system and liver are well known, the cardiac effects, though rare, have received less attention. This report presents a case of serious, but reversible sinus node dysfunction induced by CBZ in a young male with no structural heart disease. This case highlights the association of CBZ and sinus node dysfunction, which would have resulted in pacemaker implantation in this patient.

[ABSTRACT]  [FULL TEXT]  [PDF] [CITATIONS]

The diagnosis of cerebral venous thrombosis (CVT) requires high index of suspicion owing to the varied spectrum of its clinical manifestations. Its diagnosis may be more elusive if the patient presents with subarachnoid hemorrhage (SAH). We report four cases of CVT that presented with SAH and will discuss the importance of looking for clues for the early diagnosis of CVT. Three men and one woman presented with severe headache and images initially suggested SAH with no associated parenchymal bleeding. In all patients, SAH involved the sulci of the convexity and spared the basal cisterns. Angiography showed occlusion of intracranial venous sinuses without revealing any other cause of SAH. All the patients showed improvement with anticoagulant therapy.

[ABSTRACT]  [FULL TEXT]  [PDF] [CITATIONS]

[FULL TEXT]  [PDF] [CITATIONS]

Neuromyelitis optica (NMO) or Devic's disease is an uncommon idiopathic demyelinating disease of the central nervous system with selective involvement of the optic nerves and spinal cord. There are no scientifically proven guidelines on treatment of this condition either in the acute attacks or on a long-term basis. We present the case of a young girl who presented with the classical features of NMO and who did not show any improvement with intravenous high dose steroid injection, which has traditionally been the first line of treatment in the acute attacks of NMO. She was subjected to 5 cycles of plasmapheresis starting from the 12th day after the last dose of steroids. Patient had dramatic improvement of her symptoms in close temporal relationship with the starting of plasmapheresis. This case highlights the potential role of plasmapheresis as a rescue therapy in the management of steroid unresponsive acute attacks of NMO.

[ABSTRACT]  [FULL TEXT]  [PDF] [CITATIONS]

While the rapid increase in the number, sophistication and cost of diagnostic and therapeutic technology offers novel approaches to manage patients' problems in Neurology, it also creates risk of overuse of technology for unproven indications. The ever-expanding information imposes unmanageable burden for individual neurophysicians to handle; and raises the need to separate the insignificant and unsound information from salient and crucial. Evidence-based approach consisting of four steps (ask, acquire, appraise and apply) provides the techniques and tools to efficiently access the relevant literature, critically evaluate its validity and importance, and apply judiciously to make sound clinical decisions. This article aims to provide introduction to evidence-based neurology, its goal and principles, outlines the steps necessary to practice it. As a strategy of clinical practice and teaching, the evidence-based approach contributes towards quality improvement in patient care and medical education, and helps in promoting research and scientific temper. The article also points to limitations and misconceptions about evidence-based neurology and summarizes what is new in the evidence-based approach.

[ABSTRACT]  [FULL TEXT]  [PDF] [CITATIONS]

Introduction: Acute disseminated encephalomyelitis (ADEM) is an uncommon inflammatory demyelinating encephalomyelitis that may follow infections, vaccinations or occur spontaneously. Most of the large series of this disorder were published in the pre-MRI era. Subsequently there has been a paucity of data regarding this entity. Aims: We sought to describe our experience with ADEM across 2 hospitals from Kerala, Sree chitra tirunal institute of medical sciences, thiruvanthapuram and the Indo-american Brain and spine center, Vaikom. We wanted to look at the clinico-radiological parameters of this patient population as well as the functional outcome following ADEM. Materials and Methods: A total of 45 patients seen in these two centers over a period of 9 years from 1995 to 2003 were analyzed in a retrospective-prospective design. MRI, CT scans, laboratory investigations, nerve conduction parameters and modified rankin outcome scores at last follow up were also noted. Results: The clinico-radiological profile of our patients was comparable to that of patients described in the literature. Relapse was uncommon although transient reappearance of prior symptoms during subsequent illness was common. Possible multiple sclerosis could be diagnosed only in one patient during follow up. Mortality was low (<5%). However, most survivors were left with varying degrees of disability. Conclusions: ADEM deserves to be distinguished from MS in our population as there seems to be a low likelihood of recurrence or relapse. Although mortality rates have improved greatly, survivors are left with a plethora of disabilities and are functionally impaired. Future studies should focus on specific disabilities and treatment options to further improve outcomes in ADEM

[ABSTRACT]  [FULL TEXT]  [PDF] [CITATIONS]

Objective: To study language in noncaucasian patients with progressive nonfluent aphasia (PNA). To determine differences in the language impairment in PNA patients with and without early onset behavioral changes. Materials and Methods: Based on clinical evaluation, six PNA patients were divided into those with ( EB , n =2) and without ( NB , n =4) early onset (i.e., within 24 months from onset) behavioural symptoms of frontotemporal dementia (FTD). NB was sub-grouped as Moderate (language plus subtle cognitive dysfunction; n =2) and Mild (isolated language dysfunction; n =2). Language on the western aphasia battery (WAB) of NB was compared with that of EB and of the three groups were compared with that of controls. Clinical follow-up ranged between 24 and 60 months from onset. Results: Three categories were matched for the disease duration. Compared to controls, significantly (P <0.05) lower scores were seen for all three groups on WAB fluency, repetition and writing; for the Moderate and EB on reading, naming and comprehension; and for the EB alone on information content. Information content and comprehension were significantly lower for the EB when compared to the NB. Over comparable periods, the aphasia quotient of patients in EB declined by more than 30 points and in the Moderate by 3 points. Conclusions: PNA frequently shows behavioral features suggestive of FTD early in the course of the illness. Poor information content on WAB differentiates patients with early behavioral dysfunction from those without. The extent of language impairment is a function of the disease stage rather than of disease duration, suggesting thereby that the "initial 2 years of relatively isolated language disorder" criteria, while useful, may exclude some patients with PNA.

[ABSTRACT]  [FULL TEXT]  [PDF]

[FULL TEXT]  [PDF]

Abnormal high signal in the globus pallidus on T1 weighted magnetic resonance imaging (MRI) of the brain has been well described in patients with chronic liver disease. It may be related to liver dysfunction or portal-systemic shunting. We report a case of extra hepatic portal vein obstruction with portal hypertension and esophageal varices that presented with extra pyramidal features. T1 weighted MRI brain scans showed increased symmetrical signal intensities in the basal ganglia. Normal hepatic function in this patient emphasizes the role of portal- systemic communications in the development of these hyperintensities, which may be due to deposition of paramagnetic substances like manganese in the basal ganglia.

[ABSTRACT]  [FULL TEXT]  [PDF]

[FULL TEXT]  [PDF]

[FULL TEXT]  [PDF]

[FULL TEXT]  [PDF]