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EP-001. CENTRAL NERVOUS SYSTEM TUMORS IN CHINESE CHILDREN UNDER THE AGE OF THREE: A POPULATION STUDY BY THE HONG KONG PAEDIATRIC HAEMATOLOGY/ ONCOLOGY STUDY GROUP Anthony Pak-Yin Liu1, Matthew Ming-Kong Shing2, Hui-Leung Yuen3, Chak-Ho Li4, Siu-Cheung Ling5, Chung-Wing Luk3, Shau-Yin Ha1, Chi-Kong Li2, and Godfrey Chi-Fung Chan1; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong; Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, Hong Kong; Department of Paediatrics, Queen Elizabeth Hospital, Hong Kong, Hong Kong; Department of Paediatics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, Hong Kong; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, Hong Kong

We report on the use of serial proton MR spectroscopy ((1)H MRS) to differentiate between glioma and tumefactive plaque in a known multiple sclerosis (MS) patient who developed a symptomatic cerebral space occupying lesion. Gliomas and acute MS plaques may have indistinguishable chemical resonance spectra, whereas that of chronic plaque is distinct. In our case (1)H MRS demonstrated elevated concentrations of choline, lactate and lipid, with reduced N-acetyl aspartate, a pattern consistent with either low grade glioma or acute demyelinating plaque. A repeat study 4 months later showed no change, this was felt to be incompatible with the natural history of an acute plaque and low grade glioma was diagnosed. Surgical removal of the lesion revealed an oligodendroglioma, confirming the imaging findings.

To review the role of craniofacial resection and reconstruction in the treatment of patients with sphenoid wing meningioma en plaque. 15 patients were reviewed. The presenting features, operative details and complications were documented. The adequacy of resection was reviewed and postoperative scans were analyzed to assess orbital reconstruction. Patients were assessed regarding aesthetics and craniofacial function. The Glasgow outcome scale and the SF36 questionnaire were used to assess outcome. The majority (92%) presented with proptosis and had disease extending from the sphenoid wing into the orbital roof (71%) and the middle fossa (71%). The transzygomatic approach was the most commonly used approach (85%). 14 patients were examined on an outpatient basis, one patient has died. In the majority of patients visual acuity was unchanged (85%) and in most cases (85%) there was significant improvement in globe position. Ptosis (57%) and upper eyelid swelling (50%) were a persistent problem. Craniofacial function and cosmesis were well maintained. Two patients have had clinical recurrences (14%). 14 have had a good outcome adjudged by the Glasgow outcome scale and most patients have satisfactory outcomes adjudged by the SF36 questionnaire. Meningioma en plaque represents a difficult surgical challenge requiring a multidisciplinary approach. By using well established craniofacial techniques good disease control can be achieved with minimal morbidity and good functional and cosmetic results.

Subacute necrotizing encephalomyelopathy (Leigh syndrome) is associated with a number of mitochondrial DNA (mtDNA) abnormalities. We studied a family with maternally inherited encephalomyelopathy. Two siblings developed adult-onset Leigh syndrome. Muscle biopsy specimens showed enhanced succinic dehydrogenase activity and cytochrome oxidase-negative fibers. We sequenced the ATPase- and transfer RNA (tRNA)-encoding genes of mtDNA and identified a novel mtDNA valine tRNA mutation at base pair 1644. This transversion was heteroplasmic in blood and muscle in all individuals studied, and the proportion of mutant mtDNA correlated with disease severity. This is the first heteroplasmic transversion within a mtDNA tRNA gene and the second pathogenic mtDNA tRNA(Val) mutation to be associated with human disease.

The case histories are reported of two patients with systemic lupus erythematosus (SLE) who developed fatal neurological involvement, each presenting with cerebellar and brainstem signs. Neuro-pathological changes were confined to the cerebellum and brainstem, with clear evidence of a small vessel vasculopathy. The predominant histological abnormalities were multiple perivascular haemorrhages in one case and classical vasculitic changes in the other.

Background: Alexander disease is most commonly associated with macrocephaly and, on MRI, a leukoencephalopathy with frontal preponderance. The disease is caused by mutation of the GFAP gene. Clinical and MRI phenotypic variation have been increasingly recognized. Methods: The authors studied seven patients with Alexander disease, diagnosed based on mutations in the GFAP gene, who presented unusual MRI findings. The authors reviewed clinical history, MRI abnormalities, and GFAP mutations. Results: All patients had juvenile disease onset with signs of brainstem or spinal cord dysfunction. None of the patients had a macrocephaly. The MRI abnormalities were dominated by medulla and spinal cord abnormalities, either signal abnormalities or atrophy. One patient had only minor cerebral white matter abnormalities. A peculiar finding was the presence of a kind of garland along the ventricular wall in four patients. Three patients had an unusual GFAP mutation, one of which was a duplication mutation of two amino acids, and one an insertion deletion. Conclusion: Signal abnormalities or atrophy of the medulla or spinal cord on MRI are sufficient to warrant DNA analysis for Alexander disease. Ventricular garlands constitute a new sign of the disease. Unusual phenotypes of Alexander disease are found among patients with late onset and protracted disease course.

Non-functioning pituitary adenomas (NFAs) are a distinct group of pituitary adenomas, which comprise approximately 20% of pituitary adenomas. Although most pituitary adenomas are benign, there is a subset of adenomas that behaves in an aggressive fashion, with either invasion of the surrounding structures or recurrence. The aim of this study was to investigate whether the behaviour of NFAs can be predicted using immunohistochemical markers that label proliferating and apoptotic cells, including a new marker for apoptosis (M30 CytoDEATH). This is the first study to analyse both the proliferation labelling index (LI) and the apoptotic index (AI) in NFAs and to correlate the labelling indices of these histological markers with tumor growth rate as measured by 2 postoperative MRI scans.40 patients in total were included in the study. 20 patients with high growth rate and percentage change in the pituitary adenoma volume as assessed on 2 postoperative MRI scans were age/sex matched to 20 patients with low growth rate or percentage change.There is no significant statistical difference of the histological and immunohistochemical indices assessed between cases and controls.The routine assessment of the proliferation and the apoptotic markers used in this study in NFAs has no prognostic value.

181 patients treated for thoracic outlet syndrome by first rib resection were reviewed. 88 (49%) indicated a single traumatic event which precipitated the thoracic outlet syndrome. 79% of patients with a history of a single traumatic episode had good to excellent results after first rib resection. A separate group of 18 patients developed work-related thoracic outlet syndrome due to repetitive activities. Ratings of good to excellent results were lower (66%) among workmen’s compensation cases.

Background. Inflammatory conditions of the pituitary are rare and consequently there are a number of single case reports of this condition but few reports of series. The condition is often divided into lymphocytic and granulomatous hypophysitis and it has been suggested that these two conditions represent the ends of a spectrum of disease. Method. We present our experience with 14 cases of this condition, correlating the presenting symptoms with the neuroradiology, surgical findings and subsequent histology. Findings. The subjects (11 female 3 male) ranged in age from 13 to 64 years. Final histopathological diagnoses included 5 cases of lymphocytic hypophysitis, 4 cases of Rathke's pouch cyst with granulomatous response, 2 cases of granulomatous hypophysitis and 1 case with an inflammatory process that did not fit the current classification. Two subjects did not undergo surgery. Headache was a presenting feature in 11 of 14 cases and fever in 3 of 14 cases. Length of symptoms prior to presentation varied from acute onset to 9 years. One case of lymphocytic hypophysitis was associated with pregnancy. Evidence of hypopituitarism was present in 9 of 10 subjects assessed preoperatively. Preoperative radiology showed three patterns of disease: A cystic appearance was common with low signal content on MRI T1 weighting with an enhancing ring and a thickened enhancing stalk (5 patients). 4 patients showed a solid enhancing mass. A third group (2 patients) showed cysts with high signal content on T1 weighting – both of these were Rathke's cysts on histology. Interpretation. Overall there were no striking features in the clinical presentation to distinguish pituitary inflammation from pituitary adenoma. The prognosis was generally good.

We report the case of a boy aged 2 years with spina bifida and a lipomyelomeningocele which contained ectopic immature renal tissue. He presented with a swelling over the lumbosacral region, incontinence, and bilateral leg weakness. Histopathologic examination revealed adipose tissue in which a focus of fibrous tissue contained neuroglial elements, striated muscle fibres and clusters of glomeruloid structures surrounded by immature tubules. The differential diagnosis of teratoma and lipomyelomeningocele with nephrogenic rests is discussed with reference to possible pathogenesis.

The growing teratoma syndrome is a recognized complication of metastatic nonseminomatous germ cell tumors of the testis and is managed surgically. It may also occur in intracranial nongerminomatous germ cell tumors.The authors performed an English language computer search using the EMBASE data base (from January 1980 to December 1996) for pineal tumors, read all abstracts, and then selected all articles pertaining to germ cell tumors at this site.The case history of a 19-year-old male who presented with a pineal nongerminomatous germ cell tumor, which was treated with chemotherapy, is reported. Despite normalization of raised tumor marker levels, the pineal mass enlarged during chemotherapy. This was excised and proved to be a mature teratoma. A review of the literature regarding this complication of intracranial germ cell tumors is also presented.The authors believe this to be the first reported case of growing teratoma syndrome in the pineal gland of an adult patient, two previously reported cases occurred in children. The authors conclude that the pineal gland is an unusual but important site in which to recognize the growing teratoma syndrome.

The case of a young, heterosexual man who was investigated for proteinuria is reported. A renal biopsy specimen showed a focal and segmental membranous glomerulopathy. He was later found to be HIV positive and died from cerebral infarction associated with HIV vasculitis 16 months after his initial presentation. Unusual forms of immune complex mediated glomerulopathies should alert the pathologist to the possibility of HIV associated disease.

Perivascular spaces are anatomical routes for the bulk flow drainage of fluid from the gray matter to the subarachnoid space in normal rat brain. Perivascular cells are the resident scavengers in perivascular spaces. Following focal brain damage, perivascular cells upregulate MHC Class II antigens associated with uptake of edema fluid. Similar cells can be defined in damaged human brain. In the present investigation, the distribution of MHC Class II upregulated perivascular cells was measured in 30 astrocytic tumors and adjacent edematous tissues by immunocytochemistry using the following antibodies: HLA-DR (MHC Class II), PGM1 and MAC387 (macrophages). Perivascular cells were PGM1+/ MAC387- and were located in perivascular spaces along blood vessels of all sizes. MHC Class II+ perivascular cells were distributed mainly in the tumors but in some cases (4 of 10 in astrocytomas, 4 of 10 in anaplastic astrocytomas, and 7 of 10 in glioblastomas) they were also found in adjacent edematous brain. The extensive MHC Class II expression on perivascular cells suggests that perivascular cells play a scavenging role in the perivascular spaces in human brain. The results of the present study indicate the similarity between perivascular spaces in human and rat brains and emphasize the significance of perivascular spaces as anatomical routes for edema fluid drainage from human brain tissue.

Perivascular spaces are anatomical routes for the bulk flow drainage of fluid from the gray matter to the subarachnoid space in normal rat brain. Perivascular cells are the resident scavengers in perivascular spaces. Following focal brain damage, perivascular cells upregulate MHC Class II antigens associated with uptake of edema fluid. Similar cells can be defined in damaged human brain. In the present investigation, the distribution of MHC Class II upregulated perivascular cells was measured in 30 astrocytic tumors and adjacent edematous tissues by immunocytochemistry using the following antibodies: HLA-DR (MHC Class II), PGM1 and MAC387 (macrophages). Perivascular cells were PGM1+/MAC387- and were located in perivascular spaces along blood vessels of all sizes. MHC Class II+ perivascular cells were distributed mainly in the tumors but in some cases (4 of 10 in astrocytomas, 4 of 10 in anaplastic astrocytomas, and 7 of 10 in glioblastomas) they were also found in adjacent edematous brain. The extensive MHC Class II expression on perivascular cells suggests that perivascular cells play a scavenging role in the perivascular spaces in human brain. The results of the present study indicate the similarity between perivascular spaces in human and rat brains and emphasize the significance of perivascular spaces as anatomical routes for edema fluid drainage from human brain tissue.

We report a 31-year-old female with microcephaly and pulmonary stenosis who developed a pituitary carcinoma: this combination of anomalies has not been described previously.

CASE 1 A 22-year-old woman presented with a pigmented right limbal lesion. She had progressive sensorineural deafness from childhood. Parental consanguinity could not be established. Multiple, pigmented, irregular freckles were evident on the exposed skin of her face, arms, and legs. Ophthalmic examination revealed a raised pigmented lesion ofthe right limbus associated with an area of conjunctival melanosis. Histology of the biopsy specimen showed a mass of pleomorphic cells with hyperchromatic nuclei and a high mitotic count. Dark brown pigment deposits proved to be melanin supporting the diagnosis of malignant melanoma of the conjunctiva. Two years later she presented with a pigmented mass on the inferior bulbar conjunctiva of the right eye. Histology showed spindle shaped cells with nuclear pleomorphism and frequent mitotic figures. The diagnosis of malignant melanoma was supported by immunocytochemical studies which showed expression of the S-100 protein and HMB-45 antigen by the tumour cells. and 2B). The pleomorphic multinucleated spindle cells contained melanin pigment and the mitotic count was high with abnormal tripolar forms. Immunocytochemical studies showed no expression of S-100 or HMB-45.

Editor,—Epithelioid haemangioma (EH) is the preferred name used to describe a rare primary, neoplastic disorder of vascular endothelium with a variable and secondary inflammatory response.1 It is part of a spectrum of epithelioid vascular tumours and has been reported under a number terms, in particular angiolymphoid hyperplasia with eosinophilia. The term Kimura’s disease has been used interchangeably with these terms but this should now be considered a separate disorder.23 We report a case in which EH involved the lacrimal gland in isolation, without systemic eosinophilia or other features of Kimura’s disease. ### CASE REPORT A 77-year-old white woman with no previous medical history presented with a 1 year history of fullness in the right orbit and gradual right ptosis. She had developed epiphora 6 months before presentation and reported a non-specific visual disturbance in the …