Genetic abnormalities and CNS tumors: report of two cases of ependymoma associated with Klinefelter's Syndrome (KS)

Genetic syndromes associated with ependymoma are uncommon, with the exception of NF2. We describe two cases of ependymoma presenting with Klinefelter's Syndrome (KS) as co-morbid condition. The first patient was diagnosed for KS during pregnancy; he also presented a thyroid agenesis and a defic...

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Bibliographic Details
Published in:Child's nervous system 2007-02, Vol.23 (2), p.219-223
Main Authors: Garrè, M L, Capra, V, Di Battista, E, Giampietri, L, Nozza, P, Raso, A, Pezzolo, A, Rossi, A, Milanaccio, C, Pavanello, M, Naselli, A
Format: Article
Language:English
Subjects:
Central Nervous System Neoplasms - complications
Central Nervous System Neoplasms - genetics
Child
Child, Preschool
Ependymoma - complications
Ependymoma - genetics
Glial Fibrillary Acidic Protein - metabolism
Humans
Klinefelter Syndrome - complications
Klinefelter Syndrome - genetics
Male
Methylenetetrahydrofolate Reductase (NADPH2) - deficiency
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Summary:Genetic syndromes associated with ependymoma are uncommon, with the exception of NF2. We describe two cases of ependymoma presenting with Klinefelter's Syndrome (KS) as co-morbid condition. The first patient was diagnosed for KS during pregnancy; he also presented a thyroid agenesis and a deficit of methyltetrahydrofolate reductase (MTHFR); at 30 months of age he was operated on for a grade II ependymoma of IV ventricle; after a multiple-stage surgery, he underwent oral chemotherapy and stereotactic radiotherapy, but after 15 months he presented a local recurrence and died. The second patient was diagnosed for KS at the age of 16 months; at 10 years of age, due to back pain, he underwent an MRI, which showed a cauda equine tumor. He underwent surgery and radiotherapy. Histology was of mixopapillary ependymoma. In a review of literature, various neoplasms have been described in association with KS. To our knowledge, these are the first two cases reported of ependymoma associated to KS. A retrospective study of 44 monoinstitutional ependymoma cases demonstrated association with genetic syndromes in 22%.
ISSN:0256-7040
1433-0350
DOI:10.1007/s00381-006-0179-3