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Aim: Some neurological diseases associated with pregnancy may develop initially during gestation, pregnancy may predispose the patient to some of these diseases or some may occur only with pregnancy. The aim of this study is to draw attention to the rare neurological diseases – other than eclampsia – that develop during pregnancy or the diseases initially described as associated with pregnancy. Methods: Our sample comprised of 16 pregnant women who developed neurological disorders that are rarely encountered or initially reported during this phase, eclampsia excluded. Results: The proportion of cerebrovascular diseases was 56%. The others included intracranial hypotension accompanied by seizures, cerebral primitive neuroectodermal tumor, ophthalmoplegic migraine, hemiplegic migraine, spinal segmental myoclonus, acute motor axonal neuropathy and acute motor axonal neuropathy associated with ophthalmoplegia. Conclusion: Our results suggest that by adopting a careful and correct approach and accurate neurological diagnosis, most of these patients could be treated successfully with good prognosis of the newborns.

A 5-year-old girl and a 2-year-old boy presented with recurrent cerebral primitive neuroectodermal tumor (PNET) and were treated with intravenous administration of human fibroblast interferon (HuIFN-β) which was continued as outpatient maintenance therapy. Both patients showed a partial response and were still alive 14 months and 2 years after diagnosis. Our results suggest that HuIFN-β is an effective therapy for PNET, and can be used as long-term maintenance therapy without serious side effects.

BACKGROUND: A 37-year-old woman presented with a supratentorial cerebral mass, which was diagnosed histologically as a primitive neuroectodermal tumor. She had been treated for rectal adenocarcinoma 7 years previously. A family history revealed a young-onset colorectal carcinoma in the patient's father. INVESTIGATIONS: Immunohistochemical analysis for DNA mismatch repair proteins, germline mutation analysis of MSH2. DIAGNOSIS: Lynch syndrome with a heterozygous germline mutation in MSH2. MANAGEMENT: Debulking of the cerebral tumor, craniospinal axis radiotherapy, and genetic counseling of family.

A cerebral primitive neuroectodermal tumor in a 40-year-old man recurred as a metastasis to the spinal cord after an 18-year dormant period. The metastatic tumor showed features of neuronal differentiation. The clinical course and pathologic findings are discussed.

10007 Background: To assess the 3-year progression-free survival (PFS) rate of patients with newly diagnosed high-risk medulloblastoma (MB) or supratentorial primitive neuroectodermal tumor (sPNET)...

p53 mutation has been rarely reported in cerebral primitive neuroectodermal tumors (PNET). To determine the significance of p53 mutations in the development of cerebral PNET, we studied cerebral PNET samples from 14 patients, 8 females and 6 males with a mean age of 38 years (range 10 months to 77 years) who had total or subtotal surgical resection. Histological typing of PNET with neuronal (N) and non-neuronal (NN) differentiation groups revealed 8 and 6 cases, respectively. Six (43%) of the 14 patients had p53 mutation. The p53(+) and p53(-) groups had an age range of 19-77 with a mean of 49 years and 10 months to 57 years with a mean of 30 years, respectively. p53 expression between the PNET-N and PNET-NN groups was 5 of 8 (62.5%) and 1 of 6 (16.7%), respectively. The mutations contained 3 transitions, 2 transversions and 1 frameshift; none of them occurred at the site of 'hot-spot' residues (codons 175, 248, 273). The results suggest that: (1) p53 mutation in cerebral PNET tends to show a higher incidence of neuronal differentiation and occurs in the older age group in Taiwan, (2) there was no difference in survival time between the PNET-N and PNET-NN groups (7 months and 6 months) (P = 0.54), and between p53(+) and p53(-) groups (6 months and 7 months) (P = 0.57), and (3) PNET may be an entity of a heterogenous group of tumors with different genetic mechanisms controlling their trends of differential lineage. Further studies are needed to determine the significance of p53 mutations in PNET development, especially the role of carcinogens in the genesis of PNET in Taiwan.

A 21-year-old female presented with a cerebral primitive neuroectodermal tumor (PNET) without either glial or neuronal differentiation, who has survived for 27 months without neurological deficit following total removal of the tumor, radiotherapy, and intensive chemotherapy. Both immunohistochemical and ultrastructural studies are important for the diagnosis of PNET. “Undifferentiated” PNET may be a distinct entity from common PNET which shows either glial or neuronal differentiation or both.

Primitive neuroectodermal tumors (PNET) of the central nervous system are very rare tumors of childhood. They were defined by Hart and Earle as tumors of undifferentiated cells resembling germinal or matrix cells of the embryonal neural tube[1]. Histologically these tumors are similar to medullo-blastomas; however, PNETs that occur above the tentorium, usually in the cerebral cortex, are considered a separate group, often called cerebral neuroblastomas. This paper reviews the experience of the Children’s Hospital of Los Angeles with these cerebral PNETs over the past 25 years.