An unusual case of chromophobe adenoma occurring in the third ventricle is reported. Ventriculography revealed a filling defect in the third ventricle and at autopsy the tumour was found in the posterior part of the third ventricle. No tumour was detected in the pituitary gland.

Adenoma, Chromophobe↗

PubMed1976

Choroid plexus carcinoma--a case report.

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Carcinoma, Papillary↗

PubMedDate not supplied

Reye's syndrome in Bangalore.

One hundred and twenty four cases of Reye's syndrome admitted to Vanivilas Children's Hospital, Bangalore were investigated. Clinical, biochemical and epidemiological details were obtained. The median age was five years, with no difference in sex ratio. This disease was frequent in winter months. Cases clustered in certain congested localities of the city among lower socio economic strata. Aspirin and varicella could not be associated as preceding factors. The clinical and biochemical features of the patients were suggestive of Reye's syndrome. Histopathological evaluation was done in 104 liver biopsy specimens. Virological studies for influenza and arbovirus were negative. Mortality was high (78%).

Biopsy↗

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Calcium and phosphorus levels in serum and CSF in dementia.

Marked differences in CSF levels of both calcium and phosphorus were observed in patients with dementia and aged controls when compared with adult controls. A significant decrease in both Ca and P in CSF was observed in Alzheimer's type dementia (p less than 0.01) and multi-infarct dementia cases (p less than 0.01). The geriatric controls also showed a significant decrease in both Ca and P. A 60% decrease in diffusible Ca in CSF was noted both in patients and geriatric controls when compared to adult controls (p less than 0.001). Diffusible P was also decreased in all three groups (p less than 0.05). A marginal decrease in serum Ca and slight increase in P was observed in both patients and geriatric controls. The significant decrease in CSF Ca and P in both groups of patients compared with aged controls suggests this lowering of Ca and P is not due to solely to the aging process and indicates a role in the pathology of age-related disorders.

Adult↗

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Lafora's disease in south India: a clinical, electrophysiologic, and pathologic study.

Twenty-one cases (12 males, 9 females) of Lafora's disease in 16 families were studied at the National Institute of Mental Health and Neuro Sciences (NIMHANS), Bangalore, India, from 1982 to 1990. Mean age of onset was 13.5 years (range 9.5-18 years). First symptom was generalized tonic-clonic seizure (17), myoclonus (3), or dementia (1). All patients eventually developed the classical triad, except 1 who has had only myoclonus. Seven had occipital seizures. Other signs included behavioral changes (9), brisk tendon reflexes (11), cerebellar signs (8), and visual impairment (4). Patients from 14 of the 16 families (85%) were products of consanguineous marriage. More than 1 sibling was affected in 6 families. Scalp EEGs showed diffuse background slowing with epileptiform discharges in all and progressive slowing as the disease progressed in 3. Photosensitivity occurred in 4 of the 17 cases studied (23.5%). EEG abnormalities were documented in the presymptomatic stage in 2 cases 6 months and 6 years before clinical symptom onset. Visual evoked responses were abnormal in 4 of the 6 cases studied. Giant somatosensory evoked potentials (SSEP) were observed in all 8 cases studied. Lafora bodies were demonstrated in axillary skin in 14 of 17 (82.4%), in liver in 4 of 10 (40%), and in both brain biopsy specimens. In 2 cases, liver biopsy was positive while axillary skin biopsy was negative. In the brain, inclusions were evident in glial and capillary endothelial cells in addition to neurons. Although our cases were similar to those described earlier, the relative rarity of visual phenomena is emphasized. The clinical pattern was consistent with autosomal recessive inheritance. The high frequency of consanguinity in the South Indian population may be responsible for the many cases observed at our center.

Adolescent↗

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Spinal epidural epitheloid hemangioma--case report and review of the literature.

Epitheloid hemangiomas are benign vascular lesions composed of epitheloid endothelial-cell-lined channels. We report an unusual case of a purely extradural non-osseous spinal epitheloid hemangioma presenting with quadriparesis. A 5-year-old boy presented with neck pain and quadriparesis following a trivial fall. MRI revealed a mixed intensity extradural lesion compressing the cervico-thoracic spinal cord posteriorly. At surgery the lesion consisted of vascular granulation tissue admixed with blood clots without abnormal vessels. Bone was normal. Histopathology revealed it to be an epitheloid hemangioma. The case and relevant literature is reviewed.

Accidental Falls↗

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Inclusion body myositis (IBM).

Clinical, histological, immunohistochemical and ultrastructural features of 5 cases of inclusion body myositis -4 sporadic (s-IBM) and one hereditary (h-IBM) form are described. These patients (3 men, 2 women) had chronic progressive weakness of varying severity in all 4 extremities with sparing of cranial muscles. Elevation of CPK was noted in 2 patients. Electromyography revealed features of myopathy in 4 and additional neurogenic changes in 2 subjects. Clinical diagnosis was often other than inclusion body myositis. Presence of characteristic eosinophilic inclusions within the vacuoles established the diagnosis. The inclusions were congophilic and showed positivity to ubiquitin, beta-amyloid and SMI-31 in the sporadic cases while congophila was absent in the hereditary form. Immunostaining to hyperphosphorylated-tau was negative in both s-IBM and h-IBM. Membraneous whorls were observed at ultrastructural level. None of the patients improved with steroids and trial with other immunosuppressants was unsuccessful.

Adult↗

PubMedDate not supplied

Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood?

Giant axonal neuropathy (GAN) and infantile neuroaxonal dystrophy (INAD) are two progressive neurodegenerative disorders of childhood that have considerable clinical as well as histological overlap but are believed to be ultrastructurally distinct. The clinicopathological and ultrastructural features of three cases of INAD, two of whom are siblings and one case of GAN are described. The sural nerve biopsies in all four cases were essentially similar on light microscopy revealing giant axons. On electron microscopy, the findings in the case of GAN were typical with dense accumulation of neurofilaments within the giant axons. In the three cases of INAD, too, in addition to accumulation of mitochondria and organelles with vesiculotubular profiles, a similar increase in neurofilaments was evident. We, therefore, believe that these two disorders may represent a spectrum in evolution of intermediate filament pathology with various organelles participating in the temporal evolution of the disease process.

Biopsy↗

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Intracranial neurothekeoma--a rare parenchymal nerve sheath myxoma of the middle cranial fossa.

Neurothekeomas are rare, benign nerve sheath tumors, usually arising from cutaneous nerves in the head and neck region. So far, only 4 cases of the intracranial counterpart have been reported and these were located in the posterior fossa, sellar and parasellar region. We report here the first case of neurothekeoma located deep inside the brain parenchyma. Histologically, the tumor had lobular appearance with bland morphology in spite of cellular pleomorphism, myxoid background and variable S-100 positivity, characteristics of neurothekeomas. The schwannian origin was further confirmed ultrastructurally by demonstrating basal lamina and Luse bodies. Because of its benign nature, the lesion does not need postoperative radiotherapy. Histogenesis of neurothekeoma arising in the parenchyma remains enigmatic. The probable cell of origin could be the Schwann cell or perineurial cell of the nerve twigs around the blood vessels or by extreme differentiation of the precursor cell resting in a suitable microenvironment to the schwannian phenotype.

Adolescent↗

PubMedDate not supplied

Unusual case of multiple cellular and malignant schwannomas of the cranial and spinal nerves.

Schwannomas from cranial nerves and spinal roots are most often benign, malignant schwannomas being uncommon in this location. This report describes a unique case of multiple cellular and malignant schwannomas of the cranial and spinal nerves in a patient with features of neurofibromatosis 2. The tumors were arising from left optic, bilateral oculomotor, trochlear, abducent and vestibular nerves, the left facial and the spinal lumbar nerve roots. The tumor arising from the right trochlear nerve was seen excavating into the hippocampus and the left vestibular nerve into the medulla. In addition, the patient had nodular schwannomas adherent to the inferior surface of the optic chiasm and the cerebellum away from the cranial nerves. Hyperplastic schwannosis was noted in perivascular spaces of thalamus, cerebellum and hippocampus on both sides away from the main lesions. The immunohistochemical and ultrastructural profiles of the tumors suggest that neurofibromas and schwannomas are probably not distinct tumors but lie within a spectrum that differs histologically depending on the predominant cell type.

Cranial Nerve Neoplasms↗

PubMedDate not supplied

A clinical and genetic study of spinal muscular atrophy.

AIMS: This study evaluates clinical, electromyography (EMG) and genetic analysis of consecutive patients with spinal muscular atrophy (SMA) in a tertiary care adult neurology practice in India. METHODS: Consecutive patients with SMA attending the neurology out patient department during 2001-2003 were included. They were subjected to a detailed clinical examination, nerve conduction and EMG and muscle biopsy. Clinically patients were classified into generalised and segmental SMA. SMN gene deletion study was carried out in all the patients. RESULTS: There were 15 patients with type III and type IV SMA and 15 with segmental SMA (Hirayama disease). The age ranged between 5 and 23 years in type III SMA, 33-50 years in type IV SMA and 16-30 years in Hirayama disease (HD). The latter was found exclusively in males. Family history was observed in 1 patient each in all the groups. In SMA III mother and brother were affected, in SMA IV two siblings and in HD one brother had similar disease. One type III SMA family was associated with deafness and one type IV family had strong association with maturity onset diabetes in young. The EMG was characterised by lack of fibrillations in all type III and IV SMA patients except 1 whereas in HD, 11 out of 15 had fibrillations suggesting ongoing denervation. The EMG was suggestive of reinnervation in generalised SMA in both upper and lower limb muscles where as these abnormalities were restricted to C7-T1 mytomes in HD. Muscle biopsy in 10 patients with generalised SMA revealed group atrophy in all, and loss of fascicular architecture in 3, clumping of nuclei in 7 and hypertrophic fibers in 4. SMN1 gene deletion was present in 3 patients with type III but none in type IV and HD. CONCLUSION: SMN gene deletion was positive in 33% type III SMA whereas it was negative in type IV and HD. Presence of HD only in males may be consistent with X-linked disorder.

Adolescent↗