T. C. Yasha

Desmoplastic infantile ganglioglioma - clinicopathological and immunohistochemical study of four cases

Abstract Case reports. Four cases of desmoplastic infantile ganglioglioma (DIG) seen in India are described. These patients presented with large, supratentorial, superficially situated cystic tumours that showed glial and ganglionic differentiation; accompanied by a severe desmoplastic reaction. MIB-1 labelling was rare, despite foci of apparently primitive neuroepithelial cells. There was lacking p53 protein expression by tumour cells in all cases. The prognosis was good following either partial or complete tumour resection. DIGs are a distinct form of developmental neuroepithelial tumour, probably arising from neural progenitor cells in subcortical zone along with mature subpial astrocytes. Conclusions. In view of its favourable prognosis, this tumour has to be diagnosed accurately by immunohistochemical techniques using glial and neuronal markers. The absence of p53 protein expression suggests that DIG probably has different molecular genetic pathways from other supratentorial astrocytomas.

Parasellar neurenteric cyst: unusual site and histology: case report

OBJECTIVE AND IMPORTANCE: Intracranial neurenteric cyst is an exceedingly rare, congenital, benign, space-occupying lesion, and only a few reports of intracranial neurenteric cysts have been documented. We report a case of parasellar neurenteric cyst, a site not previously reported in the literature. A further rarity was the presence of smooth muscle as part of the cyst wall. This feature provides support for an endodermal origin of the cyst. CLINICAL PRESENTATION: A 27-year-old man presented with recurrent episodes of headache, vomiting, and left ptosis. Magnetic resonance imaging disclosed a cystic lesion in the parasellar region. INTERVENTION: A well-circumscribed cystic lesion was resected through a left frontotemporal craniotomy. At follow-up examination, persistent cranial nerve deficits were present. CONCLUSION: Hitherto unreported, a parasellar location of a well-encapsulated neurenteric cyst is described. The presence of a subepithelial smooth muscle layer, reminiscent of bronchiolar/intestinal muscularis mucosa, provides strong evidence for an endodermal origin of this cystic lesion.

Sparganosis of brain and spinal cord: Unusual tapeworm infestation (report of two cases)

Among the diseases due to cerebral parasitism, those caused by sparganum mansoni, the larval form of Spirometra mansoni, are very rare. We report two cases, one involving the frontoparietal area in a 38-year-old male and presenting as a mass lesion and another in a 10-year-old girl, presenting with paraparesis due to mid-thoracic compressive mass lesion. Pathological examination of the resected lesion revealed the characteristic plerocercoid larva, spargana, enclosed in acute inflammatory exudate, resembling an abscess. Postoperative recovery was good, suggesting that the best treatment for cerebral or spinal sparganosis mansoni is surgical excision. Serological tests for diagnosis were not carried out in these cases, since parasitic infection was not suspected. Although generally the role of immunodiagnosis is limited due to rarity of the condition, in endemic areas such tests may be useful in preoperative diagnosis.

Is total excision of spinal neurenteric cysts possible

Spinal neurenteric cysts are intradural cystic lesions. These represent a part of the spectrum of developmental anomalies. These are rare lesions. Most of the data in literature is review of case reports. This made us evaluate our results of 23 cases and review the literature. This is a retrospective study of 23 patients managed at our institute over 20 years. The slides were retrieved and histopathological features studied. Twenty patients were less than 30 years old and 21 were males. Follow-up was available for 21 patients with mean duration of 71 months (range 2 months to 23 years). The typical presentation was backache with progressive neurological deficits pertaining to the level. Atypical presentations as acute onset, recurrent episodic events and aseptic meningitis were also noted. The cervicothoracic region was the most common site. 16 patients had cyst in intradural extramedullary plane and seven had intramedullary location. Associated vertebral anomalies as hemivertebrae, Klippel – Feil and spina bifida were noted in seven patients. There were two histological types of cysts with no correlation between the type of cysts and associated vertebral anomalies and extent of outcome. Partial excision though had higher risk of recurrence, was not associated with poorer outcome. Dorsal approach is an acceptable route with reasonably good results for this lesion. Spinal neurenteric cysts present at younger age with varied clinical presentations. These are commonly located intradurally ventral to the cord. Histological types have no effect on the outcome. Total excision is the choice of treatment. However, partial excision is a feasible option in intramedullary lesions and when significant adhesions occur. Although associated with higher risk of recurrence, the outcome is still good in these patients on re-excision.

Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India

Progressive myoclonic epilepsy (PME) is a syndrome complex encompassing different diagnostic entities and often cause problems in diagnosis. We describe the clinical, electrophysiological and pathological features of 97 patients with the diagnosis of PME evaluated over 25 years. Case records of confirmed patients of Neuronal ceroid lipofuscinosis (NCL = 40), Lafora body disease (LBD = 38), Myoclonic epilepsy with ragged red fibers (MERRF = 10), and probable Unverricht-Lundberg disease (ULD = 9) were reviewed. The mean age at onset in patients with NCL (n = 40) was 5.9+/-9.1 years (M:F:: 28:12). Subtypes of NCL were: late infantile (n = 19), infantile (n = 8), juvenile (n = 11) and adult (n = 2) NCL. EEG (n = 37) showed varying degree of diffuse slowing of background activity in 94.6% and epileptiform discharges in 81.1% of patients. Slow frequency photic stimulation evoked photo-convulsive response in 5 patients only. Giant SSEP was demonstrated in 7 and VEP study revealed a prolonged P100 (2) and absent waveform (7). Electrophysiological features of neuropathy were present in 3 patients. Presence of PAS and Luxol Fast Blue (LFB) positive, auto fluorescent (AF) ceroid material in brain tissue (n = 12) and electron microscopy of brain (n = 5), skin (n = 28) and muscle (n = 1) samples showing curvilinear and lamellar bodies established the diagnosis. Patients of LBD (mean age of onset at 14.4+/-3.9 years, M:F:: 24:14) with triad of PME symptoms were evaluated. EEG (n = 37) showed variable slowing of background activity in 94.6% and epileptiform discharges in 97.4%. Photosensitivity with fast frequency was observed only in 5 patients. CT (n = 32) and MRI (n = 4) revealed diffuse cortical atrophy. Giant SSEP was demonstrated in 24 patients of LBD while VEP study revealed a prolonged P100 (4) and absent waveform (8). Electrophysiological features of neuropathy were present in one patient. Diagnosis was established by the presence of PAS positive diastase resistant, Lugols Iodine labeled inclusions in sweat glands of axillary skin (n = 35), brain (n = 2) and liver (n = 1). Ten patients with MERRF (mean age at onset: 14.6+/-5.8 years; M: F:: 3:2) had triad of PME symptoms. Muscle biopsy revealed oxidative reaction product and classical ragged red fibers. In nine patients of PME without cognitive decline, probable diagnosis of ULD (mean age at onset: 13.8+/-9.5 years) was considered after biopsy of skin and/or muscle excluded other forms of PMEs. Neuronal ceroid lipofuscinosis and Lafora body diseases were the common causes of PME in the series from south India. This is one of the largest series from the Indian subcontinent to the best of our knowledge. Photosensitivity is notably less common in LBD/NCL in this series distinctly different from those reported in the literature. Further exploration is required to determine whether different genotype is responsible. Morphological changes were helpful in diagnosis and could be confirmed by biopsy of peripheral tissues like skin and muscle in majority (60%). Electron microscopy was helpful in the diagnosis NCL and MERRF.

Supratentorial and cerebellar liponeurocytomas: report of four cases with review of literature

Liponeurocytoma is not exclusive to the cerebellar or fourth ventricular location. Since its inclusion in the central nervous system tumor classification in 2000, six cases with similar radiological, histomorphological and immunohistochemical features have also been described in the lateral ventricles. In the present study, we report clinical, radiological and pathological findings of three supratentorial and one cerebellar liponeurocytoma from our records, evaluated with an extensive panel of immunohistochemistry, and review published cases in the literature. The immunohistochemical pattern of supratentorial and infratentorial liponeurocytomas are almost identical, which indicates that these tumors are homologous.

Pathological spectrum of neuronal/glioneuronal tumors from a tertiary referral neurological Institute.

Neuronal/glioneuronal tumors are uncommon neoplasms of the CNS with frequent association with refractory epilepsy. Reports documenting the entire spectrum of neuronal/glioneuronal tumors are scarce in the literature. Zulch et al. from Germany in a large series reported that neuronal/glioneuronal tumors accounted for 0.4% (38/9000 cases) of all brain tumors, with similar incidence reported from Japan (0.4%), with higher incidence from Korea (2.1%). However, data from the Indian subcontinent are lacking. We reviewed 244 cases of neuronal/glioneuronal tumors of the CNS diagnosed over the last decade at our Institute and they constituted 0.86% of all CNS tumors (244/28061) received in that period. Mean age at presentation was 25.06 years (range: 1–75 years) with male preponderance (M : F = 1.54 : 1). The majority occurred in third decade (76 cases, 31.4%), with only few cases occurring beyond fifth decade (13 cases, 5.3%). Ganglioglioma/gangliocytoma (94 cases, 38.52%) was the most frequent followed by central neurocytoma (86 cases, 35.24%), paraganglioma (32 cases, 13.52%), dysembryoplastic neuroepithelial tumors (DNET) (21 cases, 8.6%), desmoplastic infantile astrocytoma/desmoplastic infantile ganglioglioma (DIA/DIG) (6 cases, 2.45%), papillary glioneuronal tumor (PGNT) (3 cases, 1.22%) and rosette‐forming glioneuronal tumor (RGNT) (1 case, 0.4%). Association with seizures was noted in 40.95% of cases. Glioneuronal tumors are an expanding group of tumors with varying spectra of morphologic patterns and biological behavior. An improved understanding has direct clinical implications for optimizing current treatments and developing novel therapeutic approaches. Although most glioneuronal tumors carry a favorable prognosis, other factors such as inaccessibility to surgical resection and rarely, malignant transformation, make it difficult to accurately predict the biological behavior based on histopathology alone. Reliable prognostic markers remain to be defined.

Case of fulminant-SSPE associated with measles genotype D7 from India: An autopsy study

Subacute sclerosing panencephalitis (SSPE), a post‐measles progressive neurological disorder is still common in India because of indifferent vaccination compliance. However, the acute fulminant form of SSPE is extremely rare. An unusual case of fulminant SSPE in an 18‐year‐old man from south India with an ultra‐short course of 19 days presenting with hemiparesis in absence of myoclonus and progressive cognitive decline, is reported. MRI showed frontal and parieto‐occipital demyelination extending to nuclear areas. Antimeasles antibodies were demonstrable in CSF and serum with oligoclonal bands in CSF despite normal CSF protein and cell count. At autopsy, unlike classical SSPE, oligodendroglia containing measles viral antigen was sparse despite florid necrotizing leukoencephalitis with acute demyelination. Measles virus was isolated from the brain with hypermutation in M gene confirming the diagnosis. Phylogenetic analysis of the viral genotype indicated that it belonged to D7 genotype which is considered rare in India.

Brain biopsy in Creutzfeldt–Jakob disease: evolution of pathological changes by prion protein immunohistochemistry

The formation of protease‐resistant prion protein (PrPsc) is considered to be an early event in the pathogenesis of Creutzfeldt–Jakob disease (CJD) and hence its demonstration in brain biopsies by immunohistochemistry is considered diagnostic. We analysed eight brain biopsies from the frontal cortex collected from different parts of India from cases diagnosed as CJD on clinical and pathological grounds for the expression of prion protein (PrP). The duration of illness in these cases varied from 2 months to 1 year. Immunohistochemistry was carried out on paraffin sections using two different clones (KG9 and 3F4) of monoclonal antibodies to PrP. Although all eight cases showed classical features of spongiform encephalopathy of varying severity, only five of the eight cases revealed PrPsc in the brain tissue. The immunolabelling was focal and all areas with spongiform change were not labelled. A temporal evolution in the staining pattern was evident – particulate diffuse labelling (synaptic type) in early stages (2 months), perivacuolar deposits in intermediate stages (5–6 months), and dense plaques in late stages (12 months).

Primary intrasellar schwannoma

Intracranial schwannomas commonly arise from the eighth cranial nerve in the cerebellopontine angle. Schwannoma arising in the sella and extending into the suprasellar region is very rare and is easily mistaken for pituitary adenoma. To our knowledge, there have been only 12 previous reports. We present a patient with primary intrasellar schwannoma that clinically and radiologically resembled a pituitary adenoma (PA). Intra-operative findings differed from a PA, as the tumour had a firmer consistency. Gross total excision of the lesion was done via a transethmosphenoidal approach. Post-operatively the patient improved in visual acuity and visual fields. We have reviewed the literature and described the characteristics of such lesions.