Carbimazole induced ANCA positive vasculitis.

Anti-thyroid drugs, like carbimazole and propylthiouracil (PTU) are commonly prescribed for the treatment of hyperthyroidism. One should be aware of the side effects of antithyroid medications. Antineutrophil cytoplasmic antibody (ANCA)--associated vasculitis is a potentially life-threatening adverse effect of antithyroidmedications. We report a patient with Graves' disease who developed ANCA positive carbimazole induced vasculitis. The episode was characterized by a vasculitic skin rash associated with large joint arthritis, pyrexia and parotiditis but no renal or pulmonary involvement. He was referred to us for neurological evaluation because he had difficulty in getting up from squatting position and was suspected to have myositis. Carbimazole and methimazole have a lower incidence of reported ANCA positive side effects than PUT. To the best of our knowledge this is the first ANCA positive carbimazole induced vasculitis case reported from India.

Granulomatous hypophysitis--an interesting and rare cause mimicking pituitary mass.

Idiopathic granulomatous hypophysitis is a rare entity. The usual clinical presentation is that of an expanding mass lesion with varying degree of hypopituitarism. This patient described presented to us with severe headache along with panhypopituitarism and post-operative diabetes insipidus.

Adrenomyeloneuropathy.

Adrenomyeloneuropathy is a rare X-linked inherited disorder of peroxisomes characterized by the accumulation of very long chain fatty acids (VLCFA) in the central and peripheral nervous system, adrenal glands and testis leading to the dysfunction of these organs and systems. The phenotypic expression is highly variable, childhood cerebral adrenoleukodystrophy and adrenomyeloneuropathy being the main variants. Here we report a case of adrenomyeloneuropathy presenting initially as Addison's disease, which remained undiagnosed for many years with many rare features. We could not locate any other publication on this subject in the indexed journals of literature published from India.

Hallucinations in Parkinson's disease--a study of forty three patients.

OBJECTIVE: To see the prevalence of hallucinations in patients with Parkinson's disease and to compare the various parameters between hallucinators and non-hallucinators. METHODS: Forty-three patients of Parkinson's disease were included. Detailed motor assessment was done with UPDRS scales. Assessment was done for the presence of depression and sleep disturbances. The patients were enquired for the presence of depression and sleep disturbance. The patients were enquired for the presence of hallucinations. Hallucination types and associated emotional experience were probed into. Comparative analysis was subsequently done between hallucinators and non-hallucinators. RESULTS: The mean age of the patients was 61.47 years while mean duration of symptoms of PD was 4.30 years. The mean UPDRS II and III scores were 15.18 and 38, respectively. Fifteen patients (34.9%) had experienced hallucinations. The hallucinations described were visual as well as auditory in nature. Majority of these patients (12 out of 15, 80%) had not volunteered about their hallucinations on their own. On analysis of various parameters between the hallucinators and non-hallucinators, it was observed that hallucinators were older and had a higher mean duration of symptoms of PD. The patients with hallucinations had a higher severity of motor symptoms and signs. Hallucinators more commonly had depression and sleep disturbances. Mean dosage of L-dopa equivalent dose was higher in patients with hallucinations as compared to those without hallucinations. On statistical analysis, however, only two parameters were found to be different in a statistically significant manner. These were the duration of illness and the Hoen and Yahr scale (p < 0.05). Also, hallucinations occurred independent of dopaminergic drugs. CONCLUSION: Hallucinations are common source of distress but are often neglected. One should always probe actively into the presence of hallucinations.

Neurological mitochondrial cytopathies.

The mitochondrial cytopathies are genetically and phenotypically heterogeneous group of disorders caused by structural and functional abnormalities in mitochondria. To the best of our knowledge, there are very few studies published from India till date. Selected and confirmed fourteen cases of neurological mitochondrial cytopathies with different clinical syndromes admitted between 1997 and 2000 are being reported. There were 8 male and 6 female patients. The mean age was 24.42+/-11.18 years (range 4-40 years). Twelve patients could be categorized into well-defined syndromes, while two belonged to undefined group. In the defined syndrome categories, three patients had MELAS (mitochondrial encephalopathy, lactic acidosis and stroke like episodes), three had MERRF (myoclonic epilepsy and ragged red fibre myopathy), three cases had KSS (Kearns-Sayre Syndrome) and three were diagnosed to be suffering from mitochondrial myopathy. In the uncategorized group, one case presented with paroxysmal kinesogenic dystonia and the other manifested with generalized chorea alone. Serum lactic acid level was significantly increased in all the patients (fasting 28.96+/-4.59 mg%, post exercise 41.02+/-4.93 mg%). Muscle biopsy was done in all cases. Succinic dehydrogenase staining of muscle tissue showed subsarcolemmal accumulation of mitochondria in 12 cases. Mitochondrial DNA study could be performed in one case only and it did not reveal any mutation at nucleotides 3243 and 8344. MRI brain showed multiple infarcts in MELAS, hyperintensities in putaminal areas in chorea and bilateral cerebellar atrophy in MERRF.

Creutzfeldt-Jakob disease : report of 10 cases from North India.

Creutzfeldt-Jakob disease (CJD) is increasingly being reported over the last three decades as a result of heightened awareness of the disease. Various studies have reported annual incidence of 0.5-1.5 cases of CJD per million of general population. In India, the disease is still under reported. Over the period spanning from 1968-1997, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore recorded 69 cases of CJD from different parts of India in the CJD registry. This paper describes the clinical experience with cases of CJD managed at the Department of Neurology, G.B. Pant Hospital, New Delhi from 1990-1998. In this series, the mean age of the patients was 53.80 (+/- 7.32) years and there were 5 females and 5 males. Myoclonus was present in all the cases and abnormal behaviour with or without other features was the presenting complaint in 7 of the 10 patients, while one patient of CJD had cerebellar ataxia as the presenting feature. One patient with occipital variant of CJD presented with acute onset cortical blindness and myoclonic jerks. One of the patients had acute psychosis precipitated by emotional stress at the onset. Extrapyramidal features were noted in 7 of the 10 patients before death. The mean duration of symptoms from the onset of disease to death was 6.6 (+/- 6.11) months. Classical EEG changes were observed in all the patients, except in one possible case of occipital variant of CJD, where we did not have access to EEG record. Brain biopsy could be undertaken in 3 patients, and in 2 patients the features of subacute spongiform encephalopathy (SSE) were noted.

Antiphospholipid antibodies syndrome in 'Stroke in young'.

Antiphospholipid antibodies syndrome has emerged as an important entity responsible for stroke in young. Seven cases of young stroke (< 40 years of age) with mean age of 30.1 years (age range 25-39 years, 2 males and 5 females), who tested positive for antiphospholipid antibodies are being reported. All subjects had completed strokes. Six had arterial ischaemic and one patient had venous stroke. One patient suffered from four episodes, three ischaemic and one intracerebral haemorrhage. Two patients suffered from foetal loss. Generalised tonic clonic seizures occurred in three patients. Deep vein thrombosis was observed in one case. Thrombocytopenia was not observed in any case. All the patients had elevated anticardiolipin antibodies (aCL) IgM or IgG, while Lupus anticoagulant (LA) was elevated in 4 cases. Six cases belonged to primary antiphospholipid antibodies syndrome and one to lupus like illness. Oral anticoagulants were administered to maintain a high intensity international normalized ratio (INR). No recurrences were observed during a follow up period of 6-18 months.

Paradoxical response to antitubercular drugs.

Seven patients with paradoxical response to antitubercular drugs are reported. In three cases of intracranial tuberculomas, newer lesions appeared and in two cases preexisting tuberculomas enlarged. In two cases of tubercular meningitis, multiple tuberculomas appeared. All these cases exhibited newer symptoms and CT/MBI revealed the paradoxical response to antitubercular drugs. All responded to continued conservative therapy, with addition of pyrazinamide.

Serum beta 2-microglobulin as a tumour marker in space occupying lesions of central nervous system.

We prospectively evaluated serum concentrations of beta 2-microglobulin in twenty healthy controls and fifty cases of CT scan proven and operated intracranial tumours. The later group comprised of twenty subjects of benign and thirty cases of malignant tumours respectively. Mean serum beta 2-microglobulin in healthy subjects was 1.80 +/- 0.5 mg/ litre, none had value of more than 3.0 mg/ltr. On the contrary 75% of benign and 63.3% of malignant tumour cases had statistically significant rise in the beta 2-microglobulin. Elevated serum level of beta 2-microglobulin may prove to be a reliable tumour marker.