In order to identify new metabolic abnormalities in patients with complex neurodegenerative disorders of unknown aetiology, we performed high resolution in vitro proton nuclear magnetic resonance spectroscopy on patient cerebrospinal fluid (CSF) samples. We identified five adult patients, including two sisters, with significantly elevated free sialic acid in the CSF compared to both the cohort of patients with diseases of unknown aetiology (n = 144; P < 0.001) and a control group of patients with well-defined diseases (n = 91; P < 0.001). All five patients displayed cerebellar ataxia, with peripheral neuropathy and cognitive decline or noteworthy behavioural changes. Cerebral MRI showed mild to moderate cerebellar atrophy (5/5) as well as white matter abnormalities in the cerebellum including the peridentate region (4/5), and at the periventricular level (3/5). Two-dimensional gel analyses revealed significant hyposialylation of transferrin in CSF of all patients compared to age-matched controls (P < 0.001)--a finding not present in the CSF of patients with Salla disease, the most common free sialic acid storage disorder. Free sialic acid content was normal in patients' urine and cultured fibroblasts as were plasma glycosylation patterns of transferrin. Analysis of the ganglioside profile in peripheral nerve biopsies of two out of five patients was also normal. Sequencing of four candidate genes in the free sialic acid biosynthetic pathway did not reveal any mutation. We therefore identified a new free sialic acid syndrome in which cerebellar ataxia is the leading symptom. The term CAFSA is suggested (cerebellar ataxia with free sialic acid).

A 61-year-old female patient presented with diffuse pain in the dorsal region of the back of 3 months duration. The magnetic resonance imaging showed an extramedullary, extradural space occupative lesion on the right side of the spinal canal from D5 to D7 vertebral levels. The mass was well marginated and there was no bone involvement. Compression of the adjacent thecal sac was observed, with displacement to the left side. Radiological differential diagnosis included nerve sheath tumor and meningioma. The patient underwent D6 hemilaminectomy under general anesthesia. Intraoperatively, the tumor was purely extradural in location with mild extension into the right foramina. No attachment to the nerves or dura was found. Total excision of the extradural compressing mass was possible as there were preserved planes all around. Histopathology revealed cavernous hemangioma. As illustrated in our case, purely epidural hemangiomas, although uncommon, ought to be considered in the differential diagnosis of spinal epidural soft tissue masses. Findings that may help to differentiate this lesion from the ubiquitous disk prolapse, more common meningiomas and nerve sheath tumors are its ovoid shape, uniform T2 hyperintense signal and lack of anatomic connection with the neighboring intervertebral disk or the exiting nerve root. Entirely extradural lesions with no bone involvement are rare and represent about 12% of all intraspinal hemangiomas.

AIMS AND BACKGROUND: The immunoprofi le of the Reed Sternberg cell with respect to immunoreactivity for CD20 and lack of CD15 has been described as a poor prognostic factor. Large scale studies analyzing the immunoprofi le of Hodgkin's lymphoma (HL) from India are lacking. The aim of this study was to obtain baseline information on relative frequencies and immunoprofi les of the two major types of HL and comparing reports from developed and developing countries. MATERIALS AND METHODS: 451 cases of HL were classifi ed as per the WHO into classical (n= 397) HL (cHL) and nodular lymphocyte predominant HL (NLPHL) (n=54). Cases of cHL were divided into 5 immunophenotypic groups; Group A (CD15+,CD30+,CD20-), Group B (CD15-,CD30+,CD20-), Group C (CD15+,CD30+,CD20+), Group D (CD15-,CD30+,CD20+)and Group E (CD15-,CD30-,CD20+). In cases of NLPHL, the immunophenotype of lymphocytes in the background, whether T(CD3) or B(CD20) rich was observed. RESULTS: Most cases of cHL belonged to Group A (44.58%) followed by Group B (40.05%), C(5.54%), D(9.57%) and E(0.25%). Half, (50.89%) the cases of cHL were immunonegative for CD15, whereas CD20 was expressed by 15.61% of the cases. Three (5.55%) cases of NLPHL showed a CD3 (T) cell rich background. Signifi cant differences were also observed with respect to the age distribution of cHL as compared to the west. CONCLUSION: Our study demonstrates that India has a high number of CD15 negative and a relatively higher number of CD20 positive cHL cases as compared to the western population. Favorable treatment response and good cure rates that one sees in western cHL may not apply to India.

Primary splenic lymphoma (PSL) is rare with a reported incidence of less than 1%. Diffuse large cell pathology has been reported in 22-23% of the cases and is felt to have poor outcome. This study reports a 50 year old male who presented with fever and weakness. He was found to have a mass lesion in the spleen documented by CT scan. A splenectomy was performed which showed non-Hodgkin's lymphoma. Immunohistological studies showed a positivity for CD20 and CD30.

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