Neurological manifestations of Ehlers-Danlos syndrome

Ehlers-Danlos Syndrome (EDS) is more identified for its cutaneous features but its neurological manifestations have not received the focused attention. Four patients of Ehlers-Danlos Syndrome (EDS) with neurological manifestations were evaluated for phenotypic data. These four men were from three families and two had consanguineous parentage. The mean age at onset and presentation of neurological symptoms were 10.5 years and 19 years respectively. Patient 1 presented with bilateral optic atrophy, sensorineural deafness, cerebellar ataxia and neuropathy. Patient 2 had marfanoid habitus, chorea and cerebellar ataxia. Patient 3 had action and percussion myotonia, wasting and weakness of sternocleidomastoid and distal limb muscles. Patient 4 had action myotonia, mirror movements of both hands and neuropathy. MRI of brain showed right parietal polymicrogyria. Neuroaxis involvement at multiple levels in EDS may have prognostic significance

Cortical Deafness - A Clinical, Audiological, Electrophysiological, Radiological And Follow Up Study

Cortical deafness occurs following lesions of the Heshcl′s gyri or the subcortical auditory pathways. Stroke is the commonest etiology. The clinical, audiological, electrophysiological and radiological observations of a patient with cortical deafness secondary to ischemic stroke involving bilateral Heschl′s gyri, with long term follow up is being reported. He had profound degree of hearing loss, poor auditory verbal comprehension, poor auditory repetition, inability to take dictation and poor response to other non-linguistic sounds despite having adequate hearing assessed by objective audiological tests. He was advised to adopt speech reading techniques and resort to gestural and written modalities to augment his communication skills. He has shown only a marginal improvement over the last six years

Adult onset subacute sclerosing panencephalitis: clinical profile of 39 patients from a tertiary care centre

Clinical and laboratory characteristics of 39 patients with adult onset subacute sclerosing panencephalitis (SSPE) are described and compared to those of juvenile onset patients regarding preceding measles, age at onset, gender, interval between onset and diagnosis, clinical profile, and course during follow up. Diagnosis was based on clinical and electroencephalographic findings and raised anti‐measles antibody titres in cerebrospinal fluid. Mean age at SSPE symptom onset was 20.9±4.9 years and mean interval from onset to diagnosis was 6.3±9.6 months. Referral diagnosis was accurate in only 12 patients. Presenting symptoms included myoclonus, behavioural changes, seizures, and cognitive, visual, and extrapyramidal disturbance. All patients received symptomatic therapy; 19 also received disease modifying agents. Five of seven pregnant women had successful deliveries. The follow‐up period varied widely (maximum 60 months, median 9 months). The profile of adult onset SSPE did not differ from the rest of the cohort, except for a longer interval between measles infection and symptom onset (p<0.0001). SSPE in adults poses diagnostic challenges for clinicians. A high index of suspicion and appropriate investigations are necessary for early diagnosis and counselling

Hemiplegia: An initial manifestation of Japanese encephalitis

A 7-year-old boy from an area endemic to Japanese encephalitis (JE) manifested with acute febrile illness, left hemiplegia and preserved consciousness during the prodromal phase of illness. The child developed features of encephalitis 48 hours after the onset of hemiplegia. IgM MAC ELISA for JE virus revealed high titers in the serum and cerebrospinal fluid suggestive of JE. MRI of the brain showed asymmetrical bilateral thalamic hyperintense lesions on T2 weighted image, considered diagnostic of JE. Hemiplegia during the prodromal phase or as an initial symptom of JE is rather unusual

Cockayne syndrome - A Clinical, Radiological, Audiological And Chromosomal Study

We report two brothers of Cockayne syndrome (CS) with progressive growth retardation, microcephaly, bird headed facies with sunken eyes, cutaneous photosensitivity, retinits pigmentosa, sensorineural deafness, spasticity ataxia, neuropathy and intracranial calcifiactions. These clinical with radiological features of cortical and cerebellar atrophy with basal ganglionic calcification and presence of consanguinity in parents and chromosome studies showing sister chromatid exchange in less than 6&#x0025; strongly supported the diagnosis of Cockyne syndrome and differentiated it from Bloom&#x2032;s syndrome and xeroderma pigmentosa. Without genetic analysis or tests for defective DNA repair, the diagnosis is mostly clinical

Quality of life in <i>Wilson&#x2032;s disease</i>

Background: Assessment of Quality of life (QoL) is fast assuming significance as the measure of health in many disorders. Aim: To correlate clinical severity and QoL in patients with Wilson&#x2032;s disease (WD). Materials and Methods: We evaluated patients of WD on regular follow up for at least two years and aged over 18 years using Neurological Symptom Score (NSS) for clinical severity and WHO-BREF for QoL at a university teaching hospital. Patients with inability to respond to the questionnaire due to behavioral problems, low IQ or other disease related factors were excluded. These 30 patients (M:F:: 23:7) had a mean age of 27.97 &#x00B1; 11.16 years at evaluation and the mean duration of treatment of 9.2 &#x00B1; 6.4 years. Results: All four domains of WHO-QoL-BREF viz., Physical, Psychological, Social and Environmental correlated well with each other ( p &lt; 0.01). The NSS correlated inversely with the physical domain ( p &lt; 0.02), while the duration of treatment had a positive correlation with the physical domain ( p &lt; 0.01). None of the other features of QoL showed any significant correlation with age, NSS or duration of treatment. Conclusion: QoL is complementary to formal neurological assessment and should be routinely incorporated in the evaluation of outcome of patients with WD and other chronic neurological disorders

Remitting - Relapsing Subacute Sclerosing Panencephalitis (SSPE) : Case Description And Mini Review

Spontaneous remission for a substantial period is a rare feature of SSPE. We report a 21 year old boy who was diagnosed to have SSPE at the age of 11 years, based on clinical, CSF and electroencephalographic features. Over a period of one year, he gradually deteriorated to a bedridden state, being dependent for all activities of daily living. He showed a substantial spontaneous remission in clinical and electroencephalographic features and maintained this till 18 years of age. He however slowly deteriorated after prolonged remission over three years. A combination of clinical improvement and disappearance of periodic complexes with normalization of the background activity in the EEG may indicate long-term survival