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.

Megalencephalic leukoencephalopathy with subcortical cysts: MRI and proton spectroscopic features.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, recently described disease. It is characterized clinically by a large head, mild neurological symptoms and a remarkably slow course of functional deterioration. The MRI is characterized by 'swollen white matter' and large symmetrical cystic changes in the cerebral hemispheres. MLC should be considered in the differential diagnosis of children with megalencephaly and leukoencephalopathy. We report a child with this disease and discuss the MRI and MRS features.

Measuring the corpus callosum in schizophrenia: a technique with neuroanatomical and cytoarchtectural basis.

BACKGROUND: Corpus Callosum (CC) abnormalities have been described in schizophrenia. Review of CC measurement methods in schizophrenia reveals inconsistency and lack of neuroanatomical basis. AIMS: The aims of the study are to describe a new CC measurement method with valid a neuroanatomical and cytoarchitectural basis and to demonstrate inter-rater reliability for the same. SETTINGS AND DESIGN: The study was performed in the National Institute of Mental Health & Neurosciences, Bangalore, India. Ours is a cross-sectional study in which both the first author and senior neuroradiologist were blind to clinical details. MATERIAL AND METHODS: We report a reliable, semi-automated CC measuring technique with a neuroanatomical and cytoarchitectural basis tested in a group of 16 never-treated schizophrenia patients using 1-mm thick, objectively defined midsagittal MRI section. Measurement on coded slices using scion image software ensured elimination of rater bias. STATISTICAL ANALYSIS USED: The statistical analysis used for assessing inter-rater reliability is intraclass correlation coefficient analysis. RESULTS: The intraclass correlation coefficients for the CC measurements were as follows: CC Area = 0.93; Anterior CC area = 0.84; Area of body of the CC = 0.83; Area of CC isthmus = 0.65; Area of CC splenium = 0.88; maximum antero-posterior distance of CC = 0.96. CONCLUSION: Measurements showed good inter-rater reliability. The methodology demonstrated in our study is simple, relevant, reliable and can be used for future schizophrenia research.

Functional MR imaging of hand motor cortex in a case of persistent mirror movement.

Persistent mirror movements are unwanted movements restricted to muscles homologous to those moved intentionally on the opposite body half. It is rarely observed and the functional MRI findings in a case of persistent mirror movement are described.

Thoracic cord compression due to ossified hypertrophied ligamentum flavum.

Ossified ligamentum flavum is increasingly appreciated as an important cause of thoracic myeloradiculopathy. Fifteen patients with age ranging from 30-61 years were studied. Fourteen presented with spastic paraparesis, and radiculopathy was the only complaint in one patient. Routine skiagrams and myelograms showed non-specific changes. Baseline CT and CT myelogram, however, documented the ossification of ligamentum flavum comprehensively. MRI was done in three patients. Multiple levels of the disease were seen in two cases. Four patients had ossified posterior longitudinal ligament. Thickened ligamentum flavum should be considered as an important cause of thoracic cord compression.

CT features of intracranial metastases of unknown primaries.

Intracranial metastases of central nervous system are relatively common in patients with systemic cancer. Computed tomography (CT) scans of 60 patients of intracranial metastatic disease of unknown primaries, at the time of surgery, were retrospectively analyzed. These patients primarily presented with neurological dysfunction. They were operated upon for various reasons and histopathological diagnosis was obtained. There were 39 male and 21 female patients, with age range of 18 to 74 years. The common clinical symptoms were raised intracranial pressure without lateralization, acute onset hemiplegia and seizures. Multiple cranial nerve palsies were observed in 4 patients. Histopathologically the intracranial lesions consisted of metastatic adenocarcinoma (32 cases) or metastatic squamous cell carcinoma (28 cases). Among cases of adenocarcinoma, CT revealed solitary lesions in 17 and multiple lesions in 13 cases. Two had extraaxial deposition in the region of petrous apex. Out of squamous cell carcinomas, 17 lesions were solitary, while 10 were multiple and one had extraaxial deposition in the region of petrous apex. This study is unique as it consisted of CT features of intracranial metastases of unknown primary malignant disease elsewhere in the body.

MRI in subacute combined degeneration of spinal cord: a case report and review of literature.

A 56 year old man presented with acute onset posterior column and lateral spinothalamic tract dysfunction over a period of 15 days. MRI showed diffuse hyperintensity on T2WI involving the posterior columns. A diagnosis of subacute combined degeneration (SCD) of the spinal cord was considered and confirmed by laboratory findings. The patient showed complete recovery on B12 therapy. MRI lesion also compeletely resolved.

Intracranial infective aneurysms: angiographic evaluation with treatment.

Infective intracranial aneurysms are relatively uncommon. They develop due to septic embolisation of the vasa vasorum or lumen of the artery, with resultant focal arteritis and necrosis, leading to aneurysm formation. They are an important cause for intracranial haemorrhage. Six cases of infective aneurysms are described. A focus of infection could be detected in all the patients. Surgery was done in three cases, out of which two patients made significant recovery, while one patient died in the immediate postoperative period. Out of the three cases, treated conservatively with antibiotic therapy, there was total resolution on follow up angiogram in two, while one patient was lost to follow up.

Intracranial haemorrhage resulting from unsuspected choriocarcinoma metastasis.

A retrospective analysis of clinicopathological data of 10 patients with clinically unsuspected cerebral metastatic choriocarcinoma was carried out. All patients were young adult females. History of preceding pregnancy/abortion was forthcoming in 5 cases but none had a prior history of abnormal gestation. Features of raised intracranial tension followed by hemiparesis were the commonest presenting symptoms. A clinicoradiologic diagnosis of intracerebral haemorrhagic mass, either primary or secondary to tumour bleed, cortico-venous thrombosis or arteriovenous malformation, was entertained in 8 out of 10 cases. In other two cases, ring enhancing lesions prompted the diagnosis of granulomatous masses. Eight patients were operated upon, of whom two died after short hospital stay, and were autopsied. All had haemorrhagic masses noted at surgery/autopsy. Accurate diagnosis of metastatic choriocarcinoma was established only by histologic examination of these haemorrhages. This report emphasizes the importance of considering metastatic choriocarcinoma as an important differential diagnosis of haemorrhagic intracerebral lesions in women of child bearing age group. Measurement of serum/CSF level of HCG in suspected cases helps to implement early therapy. The diagnostic value of histopathologic examination of surgically resected blood clots in determining aetiology of intracerebral haemorrhagic masses is highlighted.

Neurogenic heterotopic ossification : a diagnostic and therapeutic challenge in neurorehabilitation.

Heterotopic ossification (HO) is an important cause of restriction in range of movements and secondary motor disability following neurotrauma, orthopaedic interventions and burns. It has not received focussed attention in non-traumatic neurological disorders. In a prospective study of 377 patients, on medical problems in neurological rehabilitation setting, 15 subjects (3.97%) had neurogenic heterotopic ossification. Their clinical diagnosis was: transverse myelitis (7), neurotuberculosis (4), traumatic myelopathy (2) and stroke (2). Hip (10), knee (4) and elbow joints (1) were involved. The risk factors included urinary tract infection (15), spasticity (6), pressure sores (13) and deep venous thrombosis (DVT) (6). The initial diagnosis was often other than HO and included DVT (3), haematoma (2) and arthritis (2). ESR and serum alkaline phosphatase levels were elevated in all but one subject. The diagnosis of HO was established using X-rays, CT Scan and three-phase bone scan. Following treatment with non-steroidal anti-inflammatory drugs, the range of motion improved in only four patients. HO resulted in significant loss of therapy time during rehabilitation. High index of suspicion about this complication is necessary for early diagnosis and prompt intervention.

Open and minimally open lips schizencephaly.

Two patients with isolated schizencephaly, a very rare congenital anomaly of the brain, who presented with epilepsy are presented. According to imaging morphology, there are two types of schizencephaly, 'open lip' and 'minimally open lip'. These two cases emphasize that while MRI is superior to CT in the diagnosis of congenital brain anomalies, schizencephaly can be diagnosed by its characteristic CT features.

Profile of neurologic disorders associated with HIV/AIDS from Bangalore, south India (1989-96).

One hundred patients (95 males, 5 females, mean age at presentation 31.6 +/- 9.4 yr) with various neurological disorders associated with HIV infection during 1989-1996 were evaluated at NIMHANS, Bangalore. Eighty patients belonged to group I associated with opportunistic neuroinfections and 20 to group II--non infectious neurological disorders. Cryptococcal meningitis either alone (n = 31) or associated with tuberculous meningitis (n = 6) was the most common (46.3%) followed by neurotuberculosis either alone (n = 24) or with cerebral toxoplasmosis (n = 4) accounting for 35 per cent. Other opportunistic neuroinfections included cerebral toxoplasmosis, herpes zoster, fulminant pyogenic meningitis and neurosyphilis. Clinical characteristics, diagnostic clues, their laboratory and radiological profiles and problems encountered in diagnosis and management of these opportunistic infections are highlighted. In group II (19 males and one female; mean age of 32.6 +/- 9.4 yr), two patients had cortical dementia, three acute brain stem involvement, two epilepsy and one had features suggestive of progressive multifocal leukoencephalopathy. Two patients of group I during follow up developed cortical dementia. Six had peripheral nervous system involvement similar to Guillain-Barre syndrome. Sixty six patients (63 of group I and 3 of group II) progressed to AIDS, 33 patients from group I and one patient from group II succumbed to the disease. With the rapid increase in the incidence of HIV/AIDS and an increase in the neurological manifestations of HIV/AIDS it is important to recognise the magnitude of the problem for health planning in India.

Early onset cerebellar ataxia with retained tendon reflexes (EOCA) and olivopontocerebellar atrophy (OPCA): a computed tomographic study.

Computed tomographic (CT) studies in olivopontocerebellar atrophies (OPCA) and 'early onset cerebellar ataxia with retained tendon reflexes (EOCA)' are few and vary widely in methodology and criteria for cerebellar and brainstem atrophy. In this prospective study, CT scan observations on 26 patients (EOCA-11, OPCA-15) were compared with 31 controls using qualitative and quantitative assessment of cisterns, ventricles and atrophy of brain. Vermian and/or cerebellar hemispheric (predominantly anterior) atrophy was present in 80.8% and both were equally common. Cerebral cortical atrophy (26.9%) and leukoariosis (15.4%) were less frequently seen. Statistically significant atrophy of pons, brachium pontis, cerebellum and midbrain was noted in patient group. No significant differences were observed between EOCA and OPCA groups. Evidence of atrophy did not correlate with either the duration of illness or the severity of cerebellar ataxia in both the groups. The severity of brainstem atrophy in 14 patients with and 12 patients without abnormal brainstem auditory evoked response did not differ significantly. This study highlights the methodology of CT evaluation for brainstem and cerebellar atrophy, draws attention to cerebral atrophy and emphasizes the lack of significant differences in CT morphology between OPCA and EOCA patients.

Posterior circulation abnormalities in moyamoya disease : a radiological study.

Moyamoya disease (MMD) is an uncommon entity outside Japan. Though the clinical and radiological features are well described, involvement of the posterior circulation has not been highlighted. Out of 10 patients of MMD studied, the posterior circulation was involved in 9 (3 bilateral, 6 unilateral). The P1 segment was most commonly affected. Interestingly, no infarcts were seen in the territory of the posterior circulation in any patient. Five patients showed recent haemorrhages on scan. It was thalamic haemorrhage in four and subarachnoid in one patient. The posterior circulation is frequently involved in MMD as evident on angiography. However, ischaemic events of the posterior circulation are not frequent, as the posterior circulation acts as collateral pathway for the diseased anterior circulation till later stages of the disease.

CSF rhinorrhoea from unusual site : report of two cases.

CSF rhinorrhoea is associated with high morbidity and mortality. Bone and dural defects may result from trauma or enlarging 'pitholes' or breach in lateral recess of sphenoid sinus. Unless surgically corrected, they tend to cause meningitis and rhinorrhoea. Unusually delayed rhinorrhoea is a diagnostic problem.

Early onset cerebellar ataxia with retained tendon reflexes: a clinical, electrophysiological and computed tomographic study.

Fourteen patients of Early Onset Cerebellar Ataxia with retained tendon reflexes (EOCA) were prospectively evaluated clinically, electorphysiologically and with CT scan. Their age and duration of symptoms were 18.6 +/- 8.3 years and 7.8 +/- 5.1 years respectively. High consanguinity (91.7%) and positive family history (76.9%) suggested autosomal recessive inheritance. Apart from cerebellar signs and brisk knee jerks in all, other important findings were abnormal ocular movements (mostly impaired saccades) in 92.8%, Babinski's sign (78.6%), brisk ankle jerks (64.3%), spasticity in lower limbs (50%) and impairment of proprioceptive sensations (50%). Neuropsychological tests, done in 12 patients, were abnormal in all. Abnormalities of electroneuromyographic studies were universal, motor conduction parameters (85.7%) being more affected than sensory (78.6%). One or more modalities of evoked potentials were abnormal in 71.4%, that of brainstem auditory evoked response being most frequent (50%), followed by posterior tibial somatosensory evoked potential (SSEP) (46.1%) and median SSEP and visual evoked potential (30.8% each). CT scan (n = 12) showed atrophy of brainstem (91.7%), cerebellar hemisphere and/or vermis (83.3%) and cerebral cortex (33.3%). There was no correlation between the duration of disease and degree of disability or abnormalities of nerve conduction and CT parameters. The rationality of the diagnosis of this recently recognised entity of 'EOCA' in Indian context is discussed.

Radiological findings in moyamoya disease.

The clinical, angiographic and computed tomographic features in eight children with Moyamoya disease were evaluated. The CT Scan findings were correlated with the angiographic features and the stage of the vascular disease. Stenosis/occlusion of the supraclinoid internal carotid artery (ICA) and the proximal parts of the anterior (ACA) and middle cerebral arteries (MCA) were commonest angiographic findings. The cervical ICA was narrow in four patients. Infarcts (100%), abnormal enhancement patterns (63%) and cerebral atrophy (88%) were the frequent CT scan findings. Although the CT scan findings did not correlate entirely with the angiographic and clinical findings, they were more frequently abnormal in later stages of the disease. The volume of Moyamoya increased progressively up to stage 3 of the disease only to decrease with further progression. The etiology of Moyamoya disease in Indian children is not clear. However, the clinical and radiological features are similar to that in the Japanese.