Intracranial germ cell tumors in children with and without Down syndrome.
OBJECTIVE
Two Chinese children with Down syndrome affected by intracranial germ cell tumors are described. Because they represent two of eight affected patients in the current series from 1990 to 1996, it is postulated that such occurrence may be more than a coincidental event.


METHODS
Two children with Down syndrome developed germ cell tumors in atypical intracranial sites that affected basal ganglion and cerebellum. The pathology showed germinoma and yolk sac tumor, respectively. These were treated by radical surgical resection and chemotherapy with cisplatin, etoposide, and bleomycin, but without radiotherapy.


RESULTS
One patient survived 3 years without radiologic evidence of tumor. The other died from infective complications caused by severe myelosuppression after chemotherapy.


CONCLUSIONS
Subtle neurologic manifestations in developmentally handicapped patients with intracranial space-occupying lesions could result in delayed diagnosis. Children with Down syndrome suffering from brain tumors may have a higher chance for germ cell tumors. Assay for alpha-fetoprotein and beta-human chorionic gonadotrophin could hasten diagnosis in some cases. This observation and review of literature suggest an increased risk of developing intracranial germ cell tumors in subjects with Down syndrome.
Chik
K
K
Department of Pediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin NT.
Li
C
C
Shing
M M
MM
Leung
T
T
Yuen
P M
PM
D000971:Antineoplastic Combined Chemotherapy Protocols / Q000009:adverse effects / Q000627:therapeutic use; D001479:Basal Ganglia; D014408:Biomarkers, Tumor / Q000032:analysis; D001932:Brain Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology / Q000209:etiology* / Q000601:surgery; D002528:Cerebellar Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology* / Q000601:surgery; D002648:Child; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000032:analysis; D002945:Cisplatin / Q000008:administration & dosage / Q000009:adverse effects; D003131:Combined Modality Therapy; D004314:Down Syndrome / Q000150:complications*; D018240:Endodermal Sinus Tumor / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology* / Q000601:surgery; D005047:Etoposide / Q000008:administration & dosage / Q000009:adverse effects; D017809:Fatal Outcome; D018237:Germinoma / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology / Q000209:etiology* / Q000601:surgery; D006801:Humans; D008297:Male; D009503:Neutropenia / Q000209:etiology; D018805:Sepsis / Q000209:etiology; D000509:alpha-Fetoproteins / Q000032:analysis
D014408:Biomarkers, Tumor; D018997:Chorionic Gonadotropin, beta Subunit, Human; D000509:alpha-Fetoproteins; D005047:Etoposide; D002945:Cisplatin