CNS germ cell tumor (CNSGCT) of childhood: presentation and delayed diagnosis.
OBJECTIVE
To describe the relationship between symptomatology and time to diagnosis of an institutional series of patients with CNS germ cell tumor (CNSGCT) over a 16-year period.


METHODS
Thirty consecutive patients newly diagnosed with CNSGCT (mean age 10.9 years; range 6 to 17 years; 70% boys) were evaluated at our institution between 1990 and 2006.


RESULTS
Duration of symptoms prior to diagnosis ranged from 5 days to 3 years (mean 8.4 months). Tumor location included pineal (14), suprasellar (8), pineal/suprasellar (3), pineal/thalamic (4), and basal ganglionic/thalamic (3). Five patients had disseminated disease at the time of diagnosis. Features including headache, nausea, vomiting, and visual changes led to earlier diagnosis. Symptoms including movement disorders, enuresis, anorexia, and psychiatric complaints delayed diagnosis in 9 of 30 patients, diagnosed 7 months to 3 years (mean 22.3 months) from symptom onset. In 7 of 9 patients with delayed diagnosis, enuresis was present. Seventeen of 30 patients had signs of endocrine dysfunction at presentation that included diabetes insipidus (4), hypothyroidism (8), and growth hormone deficiency (4). Ophthalmologic findings of decreased visual acuity, visual field deficits, or ocular abnormalities were present in 13 patients. Duration of symptoms did not correlate with tumor subtype or event-free survival. In three patients with basal ganglionic/temporal lobe, thalamic, or pineal/suprasellar signal abnormalities on MRI, neuroradiographic diagnosis was difficult.


CONCLUSIONS
Diagnosis of CNS germ cell tumor is often delayed, and presentation may include movement disorders or mimic psychiatric disease. MRI interpretation can be challenging and may require serum/CSF markers and biopsy for diagnosis.
Crawford
J R
JR
Comprehensive Pediatric Brain Tumor Program, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA. jcrawfor@cnmc.org
Santi
M R
MR
Vezina
G
G
Myseros
J S
JS
Keating
R F
RF
LaFond
D A
DA
Rood
B R
BR
MacDonald
T J
TJ
Packer
R J
RJ
D000293:Adolescent; D017668:Age of Onset; D000856:Anorexia Nervosa / Q000175:diagnosis; D001480:Basal Ganglia Diseases / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000473:pathology; D001932:Brain Neoplasms / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology* / Q000473:pathology; D002648:Child; D002653:Child Behavior Disorders / Q000175:diagnosis / Q000209:etiology; D002675:Child, Preschool; D003951:Diagnostic Errors; D003952:Diagnostic Imaging; D018572:Disease-Free Survival; D004700:Endocrine System Diseases / Q000209:etiology; D004775:Enuresis / Q000209:etiology; D005260:Female; D005500:Follow-Up Studies; D006261:Headache / Q000209:etiology; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology; D053208:Kaplan-Meier Estimate; D008297:Male; D001523:Mental Disorders / Q000175:diagnosis / Q000209:etiology; D009069:Movement Disorders / Q000209:etiology; D009325:Nausea / Q000209:etiology; D009373:Neoplasms, Germ Cell and Embryonal / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology* / Q000473:pathology; D010871:Pinealoma / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000473:pathology; D012189:Retrospective Studies; D016019:Survival Analysis; D013786:Thalamic Diseases / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000473:pathology; D016896:Treatment Outcome; D014786:Vision Disorders / Q000209:etiology