Table Clinical and biochemical findings in L-2-OHGA patients before the onset of cerebral tumor

FindingsPatient 1/MPatient 2/FPatient 3/FPatient 4/MPatient 5/FPatient 6/FPatient 7/M
Patients 1 through 4 are our series of patients; Patients 5 through 7 were previously reported by other authors.9 In Patients 1 through 4, organic acids in urine and CSF were measured by standard gas chromatography and mass spectometry (GC/MS) techniques.3 The absolute configuration of 2-OHG was specifically determined by GC/MS, after esterification with L-2-butanol and acylation with acetic anhydride.1 Disability status was scored according to the Expanded Disability Status Scale.
nv = normal value; ND = not determined; PNET = primitive neuroectodermal tumor; GBL = glioblastoma multiforme; A = astrocytoma; FA = fibrillary astrocytoma; MBL = medulloblastoma.
Psychomotor delay++++++
Cerebellar signs+++++
Pyramidal signs+
Movement disorder+
Epilepsy+++++
Mental impairment++++
Macrocephaly++++
Disability status4.56.07.05.5
Urinary L-2-OHG (nv < 5 mmol/mol creatinine)3,6542,5522,9633,0189001,4003,240
CSF L-2-OHG (nv < 0.05 mg/L)7.64ND5.84NDNDNDND
Tumor histotypePNETGBLNDAPNETFAMBL