Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies

Giant axonal neuropathy (GAN) is a disorder that affects both the peripheral and central nervous system with clinical and genetic heterogeneity. We describe the spectrum of magnetic resonance imaging (MRI), MR-spectroscopy (MRS), and diffusion changess in two siblings from India. In addition to the described MRI findings two unreported findings, hyperintensity signals of both the globus pallidus on T1-weighted images and involvement of bilateral thalamus, were observed. MRS showed elevated choline peaks and reduced N-acetylaspartate peaks as well as presence of lactate peaks. Diffusion weighted images showed restricted diffusion

Depression and sleep disturbances in patients with multiple sclerosis and correlation with associated fatigue

Objective: To observe prevalence of depression and sleep disturbances in multiple sclerosis (MS) patients and their correlation with associated fatigue. Study Design and Setting: Prospective observation study in a university tertiary research hospital in India. Materials and Methods: Thirty‑one patients (6 male and 25 female) with definite MS (McDonald’s criteria) presented in out‑patient/admitted in the department of neurology (between February 2010 and December 2011) were included in the study. Depression was assessed using Beck’s Depression Inventory (BDI). Sleep quality was assessed using Pittsburg Sleep Quality Index (PSQI). Disease severity was evaluated using the Kurtzke’s expanded disability status scale (EDSS). Fatigue was assessed using Krupp’s fatigue severity scale (FSS). We tried to observe correlation of depression and sleep disturbance with associated fatigue in MS patients. Results: The age of patients varied between 16 and 50 years (30.1 ± 9.1). The mean age at first symptom was 25.2 ± 6.4 years (range 14-39 years). The prevalence of sleep disturbance and depression was 51.6% (16/31) each and fatigue 58.1% (18/31) in the study group. The PSQI scores were significantly greater in the patients with fatigue as compared with those without fatigue indicating poorer sleep quality is associated with fatigue in MS (P = 0.005). The BDI scores were also significantly higher in the fatigue group showing that severity of depression also strongly correlated with fatigue (P = 0.001). Conclusions: Depression and sleep disturbance in patients with MS is significantly correlated with associated fatigu

Episodic neurological dysfunction in hereditary peripheral neuropathy

Episodic transient neurological symptoms are an important set of problems presenting to a neurologist in his routine practice. Occasionally, detailed clinical history including past and family history supplemented with focused examination can bring out a rare cause for such symptoms. We describe in this report in a young male presenting with episodic focal neurological dysfunction, with family history of similar episodes in mother and brother. Examination showed features of pes cavus and peripheral neuropathy for which patient was asymptomatic. Mother and brother were established cases of hereditary neuropathy. Imaging on multiple occasions showed reversible white matter abnormalities. Clinical suspicion of X-linked Charcot-Marie-Tooth disease type 1 (CMT1X) was confirmed with detection of mutation in Gap Junction B1 (GJB1) gene, which codes for connexin 32 protein (c.425G>A; p.R142Q hemizygous mutation). Though this mutation has been already reported in CMTX patients, it has not been associated with transient neurological dysfunctions. This is probably the first reported case of CMTX patient with transient neurological dysfunction from India, whose family members had similar episodes

Kümmell’s disease — uncommon or underreported disease: A clinicopathological account of a case and review of literature

Kümmell’s disease is a rare form of vertebral body osteonecrosis, which develops as a delayed post-traumatic event. It is infrequently reported in literature and to the best of our knowledge, has not been reported from India. We describe the clinical, radiological, and pathological features of a case occurring in a 60-year-old man and relevant brief review of the literature of this rare disease. Its close resemblance to more commonly occurring bony tuberculosis poses a diagnostic dilemma particularly in developing country like India, where tuberculosis is endemic. Awareness of this entity, though rare, is essential to avoid unnecessary diagnostic work up and treatment

Prevalence of fatigue in patients with multiple sclerosis and its effect on the quality of life

Objective: This prospective study was carried out to observe the prevalence of fatigue in patients with multiple sclerosis (MS) and its effect on quality-of-life (QoL). Study Design and Setting: Prospective observational study in a University Tertiary Research Hospital in India. Patients and Methods: A total of 31 patients (25 females) with definite MS according to McDonald ′s criteria presented in out-patient/admitted in the Department of Neurology (between February 2010 and December 2011) were included in the study. Disease severity was evaluated using the Kurtzke′s expanded disability status scale (EDSS). Fatigue was assessed using Krupp′s fatigue severity scale (FSS). QoL was assessed by the World Health Organization QoL-BREF questionnaire. Results: The mean age of patients was 30.1 ± 9.1 years. The mean age at first symptom was 25.23 ± 6.4 years. The mean number of relapses was 4.7 ± 3.6 in the patients. The mean duration of illness was 4.9 ± 4.4 years. The mean EDSS score was 3.5 ± 2.2. Mean fatigue score was 38.7 ± 18.5 (cut-off value 36 in FSS). The prevalence of fatigue in patients with MS was 58.1% (18/31). MS patients with fatigue were significantly more impaired (P < 0.05) on all QoL domains (i.e., physical, psychosocial, social, and environment) than MS patients without fatigue. Conclusion: Prevalence of fatigue was found to be high in the MS patients in the study. All four domains of QoL were significantly more impaired in the group with fatigue than in those without fatigue

Self-limiting symptomatic peri-ictal bradyarryhthmia due to junctional AV rhythm

We report an elderly man with chronic uncontrolled localization.related epilepsy on three AEDs, who developed in.hospital symptomatic bradyarrythmia due to junctional atrio-ventricular (AV) rhythm after an episode of generalized seizure during his hospital stay. On further evaluation, the cardiac enzymes were normal and 2D.echocardiogram showed mild left ventricular hypertrophy. Patient recovered from the same with supportive treatment within few hours. We emphasize on importance of prompt recognition of this event and its implication including one of the mechanism for sudden unexplained death in epilepsy