Hydroxyglutaric aciduria and malignant brain tumor: A case report and literature review

Journal of Neuro-Oncology

Volumn 91, Issue 2, 2009, Pages 233-236

  Aghili, Mahdi ^a   Zahedi, Fatemeh ^a   Rafiee, Elham ^a  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Ependymoma; L 2 Hydroxyglutaric aciduria; Malignant brain tumor; Metabolic disorders

Indexed keywords

2 HYDROXYGLUTARIC ACID; CREATININE;

ADOLESCENT; ANAMNESIS; ANAPLASTIC CARCINOMA; ARTICLE; BASAL GANGLION; BRAIN SURGERY; CANCER RADIOTHERAPY; CANCER RISK; CASE REPORT; CLINICAL FEATURE; CONVULSION; CORRELATION ANALYSIS; CREATININE URINE LEVEL; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; EPENDYMOMA; FOLLOW UP; FRONTAL LOBE; GAIT DISORDER; HEAD CIRCUMFERENCE; HISTOPATHOLOGY; HUMAN; HYDROCEPHALUS; HYDROXYGLUTARIC ACIDURIA; INBORN ERROR OF METABOLISM; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PROTEIN BLOOD LEVEL; PSYCHOMOTOR RETARDATION; RISK ASSESSMENT; SEIZURE; SPEECH DISORDER; THALAMUS MIDLINE NUCLEUS; TREATMENT RESPONSE; URINE INCONTINENCE; WALKING DIFFICULTY; WHITE MATTER;

ADOLESCENT; BRAIN DISEASES, METABOLIC, INBORN; EPENDYMOMA; FRONTAL LOBE; HUMANS; HYDROXY ACIDS; MAGNETIC RESONANCE IMAGING; MALE;

EID: 57349166553     PISSN: 0167594X     EISSN: 15737373     Source Type: Journal    
DOI: 10.1007/s11060-008-9706-2     Document Type: Article

References (14)

1. Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK (1980) L-2-Hydroxyglutaric aciduria: An inborn error of metabolism? J Inherit Metab Dis 3:109-112. doi: 10.1007/BF02312543
2. D'Incerti L, Farina L, Moroni I, Uziel G, Savoiardo M (1998) L-2-hydroxyglutaric aciduria: MRI in seven cases. Neuroradiology 40:727-733. doi: 10.1007/s002340050673
3. Moroni I, D'Incerti L, Farina L, Rimoldi M, Uziel G (2000) Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria. Neurol Sci 21:103-108. doi: 10.1007/s100720070104
4. Warmuth-Metz M, Becker G, Bendszus M, Solymosi L (2000) Spinal canal stenosis in L-2-hydroxyglutaric aciduria. Arch Neurol 57:1635-1637. doi: 10.1001/archneur.57.11.1635
5. Chen E, Nyhan WL, Jakobs C et al (1996) L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inherit Metab Dis 1:335-343. doi: 10.1007/BF01799264
6. Barth PG, Hoffmann GF, Jaeken J et al (1992) L-2-Hydroxyglutaric acidemia: A novel inherited neurometabolic disease. Ann Neurol 32:66-71. doi: 10.1002/ana.410320111
7. Wileken B, Pitt J, Heath D, Walsh P, Wilson G, Buchanan N (1993) L-2-Hydroxyglutaric aciduria: Three Australian cases. J Inherit Metab Dis 16:501-504. doi: 10.1007/BF00711665
8. Barbot C, Fineza I, Diego L, Maia M, Melo J, Guimaraes A et al (1997) L-2-Hydroxyglutaric aciduria: Clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients. Brain Dev 19:268-273. doi: 10.1016/S0387-7604(97)00574-3
9. Osizik PA, Akalan N, Palaoglu S, Topcu M (2002) Medulloblastoma in a child with the metabolic disease L-2-hydroxyglutaric aciduria. Pediatr Neurosurg 37:22-26. doi: 10.1159/000065097
10. Moroni I, Bugiani M, D'Incerti L, Maccagnano C, Rimoldi M, Bissola L, Pollo B, Finocchiaro G, Uziel G (2004) L-2-hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition? Neurology 62(10):1882
11. Frost EE, Nielsen JA, Le TQ, Armstrong RC (2003) PDGF and FGF2 regulate oligodendrocyte progenitor responses to demyelination. J Neurobiol 54:457-472. doi: 10.1002/neu.10158
12. Okamoto H, Mineta T, Nakahara Y, Ichinose M et al (2004) Molecular analysis of astrocytoma associated with Turcot syndrome type 1-case report. Neurol Med Chir (Tokyo) 44(3):124-128. doi: 10.2176/nmc.44.124
13. Theodoropoulou M, Arzberger T, Gruebler Y, Jaffrain-Rea ML (2004) Expression of epidermal growth factor receptor in neoplastic pituitary cells: Evidence for a role in corticotropinoma cells. J Endocrinol 183(2):385-394. doi: 10.1677/joe.1.05616
14. Lurie DI, Solca F, Fischer EH, Rubel EW (2000) Tyrosine phosphatase SHP-1 immunoreactivity increases in a subset of astrocytes following deafferentation of the chicken auditory brainstem. J Comp Neurol 421(2):199-214. doi:10.1002/ (SICI)1096-9861(20000529)421:2<199::AID-CNE6>3.0.CO;2-G