Arun B. Taly

Cerebrovascular disease in children.

Stroke although rare in children, is an important cause of morbidity in the paediatric age group. Over a period of 8 years, 43 children (17 boys and 26 girls) in the age groups of 1–16 years (mean 8.02 yrs) presented with stroke which constituted 10% of all strokes in the young and 0.7% of all paediatric admissions. The chief clinical features were hemiplegia (86%), convulsions (27%), fever (23%). dysphasia (23%), headache (11%) and altered level of consciousness (11%). Routine laboratory tests were non‐contributory. Cranial computerized tomography (CCT) on 21 patients was abnormal in 95% and was useful in revealing the extent of infarction. Infarction was confined to middle cerebral artery territory, often involving basal ganglionic structures and was associated with focal or diffuse atrophy. Angiograms were abnormal in 78% of the patients (18/23) and were complimentary to the CCT. Etiological factors identified were: Moya‐moya disease 6, arteritis 5, fibromuscular dysplasia 2, scorpion sting 2, and venous sinus thrombosis and small vessel occlusion one each. Though 23% of the patients had fever at onset, no obvious evidence of systemic or CNS infection was noticed. Stroke in children continues to pose a diagnostic challenge.

Sympathetic skin response: a decade later

Sympathetic skin response (SSR) is a simple, reproducible test of function of a polysynaptic reflex having diverse afferents, a common efferent pathway through the spinal cord, pre and post-ganglionic sympathetic fibers and with sweat glands as effectors. The reflex is co-ordinated in the posterior hypothalamus or upper brainstem reticular formation. It has been used in a variety of disorders of peripheral and central nervous system. Methodology, possible anatomic substrates, changes in SSR in various diseases and their correlation with clinical features of dysautonomia, bed side tests for dysautonomia and other electrophysiological parameters are critically evaluated. Almost a decade after the start of its widespread clinical utilization, several aspects of SSR remain inconclusive. A consensus as to what change in SSR to consider abnormal is yet to be reached. Though its ease of application supersedes a variety of other autonomic function tests, relying only on SSR changes for prognostication or therapeutic decisions appears impracticable. A battery of tests is thus a necessity.

Myasthenia gravis in children: a longitudinal study

Background –  Juvenile myasthenia gravis (JMG) is an uncommon disease. Unlike adults, clinical characteristics and outcomes of myasthenia gravis (MG) are not well studied in children.

Dominant psychiatric manifestations in Wilson's disease: A diagnostic and therapeutic challenge!

INTRODUCTION Recognition of psychiatric manifestations of Wilsons disease (WD) has diagnostic and therapeutic implications. OBJECTIVE To describe the clinical features and psychopathology of patients with WD who had initial or predominant psychiatric manifestations. PATIENT AND METHODS Records of 15 patients with WD (M:F: 11:4), from a large cohort of 350 patients, with predominant psychiatric manifestations at onset were reviewed. Their initial diagnosis, demographic profile, family history, pre-morbid personality, clinical manifestations, treatment and outcome were recorded. RESULTS Their mean age at diagnosis was 19.8+/-5.8 years. Six patients were born to consanguineous parentage and two patients each had family history of WD and past history of psychiatric illness. Diagnosis of WD was suspected by detection of KF rings (all), observing sensitivity to neuroleptics (n=2), history of jaundice (n=2) and family history suggestive of WD (n=9). Psychiatric manifestations could be classified as affective disorder spectrum (n=11) and schizophreniform-illness (n=3). While the psychiatric symptoms improved in five patients with de-coppering therapy, seven patients needed symptomatic treatment as well. Three of the four patients who responded to de-coppering therapy were sensitive to neuroleptics. Long-term follow up of 10 patients revealed variable recovery. CONCLUSIONS Young patient with psychiatric manifestations with clues like history of jaundice, family history of neuropsychiatric manifestations and sensitivity to neuroleptics should be evaluated for WD to avoid delay in diagnosis and associated morbidity. SIGNIFICANT OUTCOMES The study reemphasizes the importance of behavioral manifestations in Wilson disease in terms of diagnosis and management difficulties. LIMITATIONS Retrospective nature of the study.

Sturge-Weber-Dimitri disease without facial nevus.

A patient with Sturge-Weber-Dimitri disease presented with intractable seizures and progressive intellectual deterioration. There was no facial nevus or focal neurologic abnormality. CT disclosed bilateral calcification in a parieto-occipital gyral pattern. Histopathology of the brain revealed extensive calcification of vessel wall in parieto-occipital cortices.

Successful pregnancies and abortions in symptomatic and asymptomatic Wilson's disease.

BACKGROUND There are only a few reports regarding the fertility and outcome of pregnancy in Wilsons disease (WD) and none from India. The authors in this study discuss various aspects of fertility in 16 women with WD. METHODS Retrospective analysis of data from a large cohort of WD, being followed at a tertiary care center. RESULTS Sixteen patients had conceived on 59 occasions with 30 successful pregnancies, 24 spontaneous abortions, 2 medical terminations of pregnancy and 3 still births. Diagnosis of WD was established after conception in 10 presymptomatic patients while six patients were already on treatment. Among these 16 patients, 9 had history of spontaneous abortions and 12 had successful pregnancies. None of the clinical features of WD changed during pregnancy, with or without treatment. All the 30 babies were full-term and delivered healthy. CONCLUSION Recurrent abortions are common especially in women with untreated Wilsons disease. However, successful pregnancies and uneventful full-term delivery may occur in mothers of WD on treatment and in undiagnosed, undetected presymptomatic patients. Pregnancy does not seem to have adverse effect on the clinical course of Wilsons disease. Teratogenecity was not seen in the present series with low-dose penicillamine and zinc sulphate.

Non-traumatic spinal cord lesions: epidemiology, complications, neurological and functional outcome of rehabilitation.

Study design:Prospective cross-sectional study.Objective:To study epidemiology, complication, neurological and functional outcome in non-traumatic spinal cord lesions (NTSCL) after inpatient rehabilitation.Setting:Neurological rehabilitation unit of a tertiary research hospital.Methods:Sixty-four patients (M/F=28:36) with NTSCL admitted from June 2005 to January 2008 for multidisciplinary rehabilitation. Epidemiology, medical complications during stay in rehabilitation, admission and discharge—Barthel Index (BI) and American Spinal Injury Association (ASIA) impairment scale for functional and neurological recovery, respectively, were recorded and analyzed.Results:NTSCL constituted 60% (64 of 106) of the total SCL patients admitted for rehabilitation during the same period. Female patients outnumbered males (56.25%) in the study. Mean age, duration of illness and duration of stay in rehabilitation were 30.64±13.67 years (6–57), 7.09±9.15 months (1–48) and 55.75±40.91 days (14–193), respectively. The ratio of paraplegia and quadriplegia was 2:1. Forty-four patients (68.75%) had incomplete cord lesion according to the ASIA impairment scale. Spinal tumors (26.6%) were found to be the most common etiology, followed by Potts spine (25%) and transverse myelitis (22%). Urinary tract infection was found to be the most common complication (50%), followed by spasticity (35.93%) and urinary incontinence (31.25%). The mean BI scores showed significant (P=0.000) functional recovery during rehabilitation using paired Students t-test. The ASIA impairment scale showed significant neurological recovery (P=0.001) using the Wilcoxon non-parametric test.Conclusions:NTSCL constitute a significant proportion of overall SCL. Female population, paraplegia and incomplete cord lesions are more common among NTSCL in this study. Patients with NTSCL recover significantly both neurologically and functionally with rehabilitation intervention.

Autonomic dysfunction in Wilson's disease --a clinical and electrophysiological study.

Abstract. Wilsons disease is known for its protean manifestations; however involvement of the autonomic nervous system has not received much attention. Fifty patients with varying duration and severity of illness were evaluated for autonomic dysfunction clinically and electrophysiologically, using sympathetic skin response (SSR) and RR interval variability (RRIV) on deep breathing. The change in heart rate (ΔHR) was calculated from RRIV. Five patients had at least one autonomic symptom and one asymptomatic patient had significant postural hypotension. Absent SSR and abnormal ΔHR were noted in seven patients each. Overall, 13 patients had electrophysiological dysautonomia and an additional six had clinical dysautonomia. All had normal peripheral conductions and all but one had normal hepatic functions. Dysautonomia was more common among patients with neurological presentation (12/32) than non-neurological (1/18) (p = .012).Dysautonomia, often subclinical is common in Wilsons disease and is probably of central origin. It is more frequent among those with neurological presentation. Sympathetic and parasympathetic functions are equally affected.

Involvement of peripheral nervous system in juvenile Parkinson's disease

We evaluated, by using electrophysiological techniques, 29 patients with juvenile Parkinsons disease (JP), who had no known causes or clinical signs of neuropathy. Electromyographic evidence of chronic partial denervation with reinnervation was observed in nine patients (34.6%). Abnormalities of motor conduction in the common peroneal nerve were present in four (13.8%), Sural sensory conduction in nine (31.9%) and sympathetic skin response (SSR) in eleven (37.9%) patients. The symptoms of dysautonomia correlated poorly with changes in SSR. These abnormalities were independent of age at onset, duration or severity of the disease and antiparkinsonian drugs used. This study suggests that the peripheral nervous system is involved in JP in more than 50% of patients. The commonly observed symptoms of dysautonomia in Parkinsons disease may have a peripheral origin.

Association of Japanese encephalitis virus infection with Guillain‐Barré syndrome in endemic areas of South India*

This study is a report of 34 cases of Guillain‐Barré syndrome (GBS) observed in Bangalore (South India), an endemic area for Japanese encephalitis virus (JEV) infection. Virological and immunological findings suggested an antecedent and recent JEV infection in 21/34 patients. Nineteen patients among them showed high levels of JEV‐specific IgM antibodies in serum and/or CSF, while the viral antigen could be demonstrated in one case and virus isolation from the CSF was successful in one patient. EMG studies revealed features of predominantly demyelinating neuropathy in 18/25 cases. Comparison of clinical findings, duration of illness and outcome in GBS patients with evidence of JEV infection and those without did not reveal any differences. Pathological findings in one patient corroborated the association of JEV with GBS. We conclude that, JEV infection may predispose to Guillain‐Barré syndrome in endemic areas.