Spectrum of epilepsy in tuberous sclerosis.

Tuberous sclerosis (TS) is an autosomal dominant disease that affects the brain, skin, eye, heart and kidney. The diagnostic criteria for tuberous sclerosis complex (TSC) have recently been revised. There are relatively few Indian studies on this disorder. Twenty-six patients diagnosed as having TS over a period of 18 years are being reported. The onset of seizures ranged from infancy to adolescence. The patterns of epilepsy encountered were generalized tonic clonic seizures (13), complex partial seizures (10), simple partial seizures (9) and myoclonic jerks (4) including infantile spasms (3). Patients often had more than one seizure type. Nineteen patients were mentally subnormal. Cutaneous manifestations were facial angiofibroma i.e. adenoma sebaceum (20), shagreen patches (7), hypopigmented macules (6), ash leaf spots (4), café-au-lait spots (2), facial hypoplasia (2) and periungual fibromas (1). One patient each had retinal phakoma and renal angiomyolipoma. CT scan revealed sub-ependymal calcifications (12), parenchymal tubers (3), cerebral edema (3) and cortical atrophy (1). One patient had enhancement of peri-ventricular sub-ependymal lesions on MRI. Anticonvulsants prescribed were phenobarbitone (20), diphenyl hydantoin (14), carbamazepine (8), sodium valproate (4), benzodiazepines (4), ACTH (2), prednisone (1), mysoline (1) and vigabatrin (1). Most patients were on combinations of anti-convulsants and response to therapy was usually not very satisfactory. However, the child treated with vigabatrin did well.

Cardiac involvement in Wilson's disease--an electrocardiographic observation.

BACKGROUND: Wilson's disease is known for its protean manifestations; however electrocardiographic abnormalities have not received much attention. AIM: To evaluate the various electrocardiographic (ECG) changes in patients with Wilson's disease. METHOD: The resting ECGs of 50 patients with Wilson's disease were systematically analyzed independently by three observers after excluding other causes that could induce ECG abnormalities. RESULT: Fifteen patients had at least one abnormality in the ECG. Sinus tachycardia was seen in eight and sinus bradycardia in six. Other abnormalities included: bifid P wave (1), ST elevation (2), ST depression (2), T inversion (4), ventricular premature contraction - VPC (1) and prominent U waves (1). QRS axis, PR interval, QRS complex, R/S amplitude ratio and QT interval were normal in all. Ventricular premature beats were not recorded in any. None had features of ventricular hypertrophy. There was no statistically significant difference in ECG abnormalities with reference to age, gender, duration of illness or treatment, serum copper or ceruloplasmin, and severity of neurological impairment. CONCLUSION: ECG abnormalities are not uncommon in Wilson's disease and are presumably related to an underlying cardiomyopathy due to deposition of copper in heart.

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.

Non-traumatic acute rhabdomyolysis.

A boy developed sudden severe generalized muscle stiffness, bulbar weakness and passed dark coloured urine. Laboratory tests revealed marked elevation of creatinine kinase(CK) levels and myoglobinuria. Histopathology of quadriceps muscle showed features of acute rhabdomyolysis. Patient made complete clinical recovery over a period of three weeks and CK returned to normal level. The possible aetiologies of non-traumatic rhabdomyolysis are discussed and the relevant literature reviewed.

Recurrent Guillain Barre' Syndrome: a clinical, electrophysiological and morphological study.

Of the 220 patients of acute idiopathic demyelinating polyneuritis (AIDP/GBS) seen over a seven year period, 15 patients (M:F:11:4) had a relapsing course (6.8%). Their ages ranged from 8 yrs to 70 yrs. They had 36 episodes at a variable interval of 3 months to 25 yrs. Relapse rate varied from one to four. Antecedent events were noted during 16 episodes in 9 patients but the triggering factors were varied. Clinical features of individual episodes were similar to the acute monophasic illness, although they differed inseverity from one episode to the other. Autonomic disturbances were rare. Albuminocytological dissociation was observed during 19 of the 24 episodes. Electrophysiological abnormalities were observed during 19 of the 24 episodes. Electrophysiological abnormalities were present in all and were comparable with patients of non-recurrent illness. Sural nerve biopsy in 3 patients showed evidence of demyelination, remyelination, Wallerian degeneration and myelin breakdown but none had features of inflammation. With the exception of one death, functional recovery was complete in the majority of patients, irrespective of the type of therapeutic intervention. Acute onset, frequent facial involvement, brief clinical course, near complete recovery and very long asymptomatic periods may distinguish these patients of acute relapsing demyelinating polyneuropathy (ARDP) from chronic relapsing demyelinating polyneuropathy. Relapses in GBS are however unpredictable and recurrent GBS is indistinguishable clinically, electrophysiologically and morphologically from the more frequently seen non-recurrent form of monophasic GB Syndrome. A biochemical or immunological marker may help in this distinction.

Critically ill Guillain Barre' syndrome.

Among the 153 patients fulfilling NINDS criteria for Guillain Barre' Syndrome (GBS) seen over 5.5 yrs, there were 47 (M:F 38.9) critically ill patients (age range 4 to 60 years). Antecedent event was recorded in 25 patients and the peak deficit was attained over a mean period of 9.5 days. Besides severe motor paralysis other salient features were: bulbar paralysis--42, sensory symptoms or signs--21, dysautonomia 31 and requirement for ventilatory assistance 45. CSF protein was raised in 63% cases. All the 17 patients who underwent electromyography had abnormalities of nerve conduction paramentes. Mean stay on the ventilator was 29.6 days and was not influenced by corticosteroid. Complications were frequent: pulmonary and urinary tract infection, dysautonomia, electrolyte disturbances, haemetmesis, bleeding from tracheostomy site and hepatic and renal failure. Mortality in steroids treated group (13/27) and the conservatively managed group (5/20) did not differ significantly. No discriminant factor emerged between survivors and non-survivors. Age and sex of the patients, presence of antecedent event, onset to peak interval and CSF protein level did not predict the need for ventilatory assistance, although these patients at admission had more frequent weakness of facial, bulbar, trunk, neck and proximal muscles of upper limbs and autonomic disturbances. Course of GBS remains unpredictable at the onset of the disease, warrants close supervision and meticulous supportive care and remains a therapeutic challenge.

Neurological complications due to Semple-type antirabies vaccine. Clinical and therapeutic aspects.

Thirty nine patients with neuroparalytic accidents due to the use of Semple-type antirabies vaccine were studied. The mean age of the patients was 25.8 +/- 13.2 years. The suspected source of infection was the bite of a dog in 36 (92.3%) cases. The mean interval between the first dose of ARV and the onset of neurological deficits was 14.4 +/- 8.7 days. The number of doses was 7 or less in 28 (71.8%) and more than 7 in 11 (28.2%) cases. With regard to neurological deficits, 5 (12.8%) had encephalopathy, 1 (2.6%) had encephalomyeloradiculopathy, 12 (30.7%) had cervical myeloradiculopathy, 4 (10.3%) had dorsolumbar myeloradiculopathy and 17 (43.6%) had polyradiculopathy. Lumbar cerebrospinal fluid analysis was done in 31 (79.5%) cases and was abnormal in 15 (48.4%), in the form of pleocytosis or raised protein or both. Electroencephalogram was done in 24 (61.5) cases and was abnormal in 7 (29.2%); in 6 (85.7%) of theme the abnormalities were subclinical. Electroneuromyography was done in 15 (38.5%) patients and was abnormal in 13 (72.2%). Visual evoked potentials were studied in 11 (28.2%) cases and were abnormal in 2 (18.2%). Thirty six (92.3%) cases received steroids and 25 (64.1%) received cyclophosphamide in addition. The therapeutic results were better in those who received cyclophosphamide. Three patients died; One died due to respiratory failure and two due to unrelated causes while on respirator. The latter two were autopsied, and findings in the brain were unremarkable.