Short Reports
(monoclonal specific to PrPsc, peptide segment, aminoacids 140-180, BBSRC Resource Centre, courtesy Dr. J.W. Ironside, Consultant Neuropathologist, National CJD Surveillance unit, Western Hospital, Edinburgh) using formic acid and hydrolytic autoclaving as pretreatment and standard immunoperoxidase technique with DAB/ H2O2 as chromogen. Histopathology: Classical spongiform encephalopathy was absent, in all areas of the brain examined. The subarachnoid space both around cerebral and cerebellar cortex, was filled with carcinomatous cells, extending along Virchow Robin spaces (Figure 1) into the cerebral and cerebellar cortex, basal ganglia, thalamus, hippocampus and brain stem, as numerous nodulesimparting a spongy appearance at low magnification. The lesions were limited to the cortex and nuclear areas. The tumor nodules had acinar structures, containing PAS positive intracytoplasmic material. Amyloidotic plaques were not seen. PrP immunostain failed to reveal PrPsc deposits in the brain, excluding the diagnosis of CJD. Age related neurofibrillary tangles or senile plaques were not observed, there were no features of limbic encephalitis, viral encephalitis or vascular/ischemic pathology. The histological features were characteristic of diffuse metastatic carcinomatous meningitis, extending into the gray areas of the brain. As the autopsy was confined to examination of the brain alone, the source of the primary could not be established.
Discussion CJD affects individuals between 50-70 years of age. Psychiatric symptoms in the form of cognitive impairment, delusions and hallucinations, depression, euphoria and aggression are occasionally described in the literature and may form prodromal symptoms of CJD in 18-39% of cases.1,2,3,4 A diagnosis of probable CJD of sporadic form5 was considered in the present case on the basis of clinical features. In this case, dementia appears to have been caused by diffuse carcinomatous meningitis and multiple cortical tumor nodules altering the CSF dynamics and deranged cortical activity.6 The topographic distribution of the lesions in the frontal cortex, hippocampus, striatum account for the clinical features of dementia, ataxia and extrapyramidal symptoms. The diffuse background theta activity on EEG, could be due to multifocal disruption of the synaptic connectivity in the cortex by the tumor deposits. The absence of abnormal prion protein in the brain excluded the diagnosis of CJD. Only one other such report of metastatic disease presenting like CJD is recorded in the literature.7 Though in cases of rapidly progressive dementia with myoclonus and EEG features, CJD forms an impor-
Figure 1: Section through the frontal cortex shows multiple perivascular metastatic adenocarcinoma deposits in Virchow Robin space and the surface subarachnoid space. HE X 36. Inset: Higher magnification highlighting the adencoarcinoma deposit. HE X 320.
tant clinical diagnosis, it is imperative to make efforts to exclude other treatable causes mimicking CJD, as happened in this case. This case report highlights that despite advances in clinical diagnosis, confirmation by tissue diagnosis remains a prerequisite for confirmation of CJD.
References 1.
2.
3.
4.
5.
6.
7.
Rossum AV. Spastic pseudosclerosis (Creutzfeldt-Jakob disease) In: Vinken PJ, Bruyn GW, editors. Hand Book of Clinical Neurology: Diseases of the Basal Ganglia New York: John Wiley and Sons Inc 1968;6. p. 726-60. Will RG, Matthews WB. A retrospective study of Creutzfeldt-Jakob disease in England and Wales 1970-79. I: Clinical features. J Neurol Neurosurg Psychiatry 1984;47:134-40. Shankar SK, Satishchandra P, Barodawala SA, Desai AP. Hippocampal and parahippocampal pathology in Creutzfeldt-Jakob disease, its possible role in dementia. Neurol India 1991;39:3-9. Satishchandra P, Sharma P, Chatterji S, Shankar SK. Psychiatric manifestations of Creutzfeldt-Jakob disease: Probable neuropathological correlates. Neurol India 1996;44:43-6. Masters CL, Harris JO, Gajdusek DC, Gibbs CJ Jr, Bernoulli C, Asher DM. Creutzfeldt-Jakob disease. Patterns of worldwide occurrence and the significance of familial and sporadic clustering. Ann Neurol 1979;5:177-88. Esiri MM. Other diseases that cause dementia (Chapter 19) In: Eisiri MM, Morris JH, editors. The Neuropathology of Dementia. Cambridge University Press 1997. p. 398-414. Liss L. Correlation between clinical diagnosis of Jakob-Creutzfeldt disease autopsy findings. Abstract 606 D09. XIV, World Congress of Neurology. Neurol India 1989;37:360.
Accepted on 17.12.2003.
Desmoplastic infantile ganglioglioma - A case report D. Balasubramanian, V. G. Ramesh, K. Deiveegan, Mitra Ghosh*, V. S. Mallikarjuna*, T. P. Annapoorneswari*, N. Chidambaranathan**, K. V. N. Ramani* Departments of Neurosurgery, *Pathology, **Radiology, Apollo Hospitals, Tondiarpet, Chennai, India. V. G. Ramesh 350/4, Lloyd’s Road, Gopalapuram, Chennai - 600 086, India. E-mail:
[email protected] or
[email protected]
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Desmoplastic infantile ganglioglioma is a very rare supratentorial tumor occurring in the first two years of life. A fivemonth-old female infant presented with recurrent seizures, large head and loss of acquired milestones. Computerized Tomographic Scan of brain showed a large subarachnoid cyst with a solid intensely contrast enhancing tumor in the right temporoparietal region with severe degree of mass effect. Craniotomy and total excision of the tumor followed subsequently by subduro-peritoneal shunt for the extracerebral fluid collection was done. The child made good recovery. Histopathology revealed features of desmoplastic infantile ganglioglioma, viz., marked desmoplastic component with glial and neuronal elements. Immunohistochemistry showed positive staining for glial fibrillary acidic protein (GFAP) with areas of synaptophysin and chromogranin positivity. Desmoplastic infantile ganglioglioma is a rare tumor of infancy, which has excellent prognosis after total excision. No adjuvant therapy is required. This is the first Indian report of desmoplastic infantile ganglioglioma out of less than fifty cases reported worldwide.
Figure 1: C.T. Scan of brain showed a large subarachnoid cyst
Key Words: Desmoplastic infantile ganglioglioma, supratentorial neuroepithelial tumors of infancy, gangliogliomas
Introduction Desmoplastic infantile ganglioglioma was first described by Vanden Berg et al1 in 1987. Together with superficial astrocytoma, they are also grouped as desmoplastic supratentorial neuroepithelial tumors of infancy. Desmoplastic infantile gangliogliomas are extremely rare and less than 50 cases have been reported in the literature. A 5-month-old infant with right temporoparietal desmoplastic infantile ganglioglioma which was successfully managed is presented in this report and the relevant literature has been reviewed.
Figure 2: Contrast C.T. Scan of brain showed a large subarachnoid cyst with mass effect with shift of midline
Case Report A 5-month-old Bengali female child presented with enlargement of head, repeated generalized tonic-clonic seizures and loss of acquired milestones of one-month duration. At the time of admission, the child was irritable. The head circumference was 51 cm. And the anterior fontanelle was wide and tense. There was no neurological deficit. Computerized Tomographic scan (CT scan) of brain showed a large cystic tumor in the right frontotemporoparietal regions, with a moderate-sized, isodense and intensely enhancing surface mass (Figures 1 and 2). A right frontotemporoparietal craniotomy was performed. The subarachnoid cyst contained xanthochromic fluid. The solid tumor was approximated to the dura. It was firm and relatively avascular and measured about 6 cm x 5 cm x 3 cm. The tumor was excised completely. The postoperative course was uneventful. Histopathology showed the tumor with marked desmoplastic component with neoplastic astrocytes and a few scattered neuronal ele-
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Figure 3: Histopathology: desmoplastic component with neoplastic astrocytes and a few scattered neuronal elements
ments (Figure 3). Immunohistochemistry showed strong reaction with Glial Fibrillary Acidic Protein (GFAP) with areas showing posi-
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tive reaction for Synaptophysin and Chromogranin. The picture was consistent with desmoplastic infantile ganglioglioma.
Discussion Desmoplastic supratentorial neuroepithelial tumors of infancy form a rare but distinctive group of tumors occurring in children less than 2 years of age. Vanden Berg et al1 (1987), named these tumors as desmoplastic cerebral astrocytoma of infancy and desmoplastic infantile ganglioglioma (DIG), on the basis of immunohistochemistry and electron microscopy. Both these groups of tumors occur in children less than 2 years of age. They have identical clinical and radiological features and both have favorable outcome following successful excision. Subsequently, these groups of tumors have been included as a distinctive group, in the revised World Health Organization (WHO) classification of brain tumors (Kleihues et al21993). Less than 50 cases of desmoplastic infantile ganglioglioma (DIG) have been reported in the literature. Several authors have reported single case reports and small series of cases of DIG.3,4 The youngest patient has been 4 months of age. All these children presented with macrocephaly, seizures, psychomotor delay, either in isolation or in combination. All these patients have similar Computerized Tomographic scan (CT) and Magnetic Resonance Imaging (MRI) characteristics (Martin et al 1991, Tenreiro-Picon et al5,6 1995). The tumors commonly occur in frontal or parietal lobes, with a solid component closely attached to the dura, which intensely enhances with contrast, surrounded by a parenchymal cystic component and mass effect. Most of these tumors are amenable to
surgical excision because of their surface location and distinct firmness with clear demarcation from the surrounding normal brain. No adjuvant therapy is recommended after total excision, despite the fact that the lesion has a low malignant potential. Long-term prognosis after total surgical excision has been excellent in all the reported series. Histologically, these tumors have intense desmoplasia, with neoplastic astrocytes with occasional neuronal elements. Desmoplastic cerebral astrocytoma of infancy and DIG are difficult to differentiate under light microscopy. Immunohistochemistry plays a very important role in the diagnosis of DIG. In DIG, the tumor shows intense positivity for Glial Fibrillary Acidic Protein (GFAP) which is a glial marker, with areas positive for synaptophysin or neurofilament immunostain, which are neuronal markers. In desmoplastic1,4,7 cerebral astrocytoma, there is positivity for GFAP only.
References 1.
2. 3. 4.
5. 6. 7.
Vanden Berg SR, May EE, Rubeinstein LJ, et al. Desmoplastic supratentorial neuroepithelial tumors of infancy with divergent differentiation potential (“desmoplastic infantile gangliogliomas”). J Neurosurg 1987;66:58-71. Kleihues P, Burger PC, Scheithauer BW. The new WHO classification of brain tumors. Brain Pathol 1993;3:255-68. Duffner PK, Burger PC, Cohen ME, et al. Desmoplastic infantile gangliogliomas: An approach to therapy. Neurosurg 1994;34:583-9. Sperner J, Gottschalk J, Neumann K, et al. Clinical, radiological and histological findings in desmoplastic infantile ganglioglioma. Childs Nerv Syst 1994;10:458-63. Martin DS, Levy B, Awwad EE, et al. Desmoplastic infantile ganglioglioma: CT and MR features. Am J Neuroradiol. 1991;12:1195-7. Tenreiro-Picon OR, Kamath SV, Knorr JR, et al. Desmoplastic infantile ganglioglioma: CT and MRI features. Pediatr Radiol 1995;25:540-3. VandenBerg SR. Desmoplastic infantile ganglioglioma and desmoplastic cerebral astrocytoma of infancy. Brain Pathol 1993;3:275-81.
Accepted on 11.11.2003.
Total external ophthalmoplegia induced by phenytoin: A case report and review of literature Vinod Puri, Neera Chaudhry Department of Neurology, G. B. Pant Hospital, New Delhi - 110002, India.
A 28-year-old male developed total external ophthalmoplegia following oral administration of phenytoin. The case is reported and its significance is discussed. Key Words: External ophtalmoplegia, Phenytoin induced ophtalmoplegia, phenytoin toxicity.
Introduction There have been innumerable reports concerning phenytoin toxicity, but few have mentioned its effects on eye movements other than nystagmus.1 Ophthalmoplegia has been reported with administration of large doses of Phenytoin,2,3 Phenobar-
Vinod Puri 16, Type 5, MAMC Campus, New Delhi - 110002, India. E-mail:
[email protected]
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386 The CMYK author has requested enhancement of the downloaded file. All in-text references underlined in blue are linked to publications on ResearchGate.
